#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARID1A	8289	broad.mit.edu	37	1	27106761	27106761	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000457599.2_Silent_p.K1907K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - coding silent(1)	p.K2124K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6370-6372)aaA>aaG		AT rich interactive domain 1A (SWI-like)							107.0	104.0	105.0					1																	27106761		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106761A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6372A>G	1.37:g.27106761A>G			Somatic				ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000457599.2_Silent_p.K1907K	p.K2124K	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6743	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2124					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.6372A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637316	0.03557	.	.	ENSG00000117713	ENST00000430799	.	.	.	4.97	2.57	0.30868	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	-5.4502	5.5732	0.17208	0.7063:0.1453:0.1484:0.0	.	.	.	.	A	1021	.	.	T	+	1	0	ARID1A	26979348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.629000	0.37071	0.437000	0.26423	-0.386000	0.06593	ACT		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		37	141	37	141	---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29314300	29314300	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	117					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423																																						ENST00000343067.4																			1	Substitution - coding silent(1)	p.E117E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(349-351)gaA>gaG		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126.0	131.0	130.0					1																	29314300		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314300A>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.351A>G	1.37:g.29314300A>G			Somatic				EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E	p.E117E	NM_001166005.1	NP_001159477.1	WXS	Illumina GAIIx	Phase_I	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	478	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	117					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.351A>G	CCDS53288.1																																																																																				0.423	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		8	286	8	286	---	---	---	---
DMBX1	127343	broad.mit.edu	37	1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000360032.3	+	4	744	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	DMBX1_ENST00000371956.4_Missense_Mutation_p.L249F	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627																																						ENST00000371956.4																			1	Substitution - Missense(1)	p.L249F(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(745-747)Ctc>Ttc		diencephalon/mesencephalon homeobox 1							100.0	106.0	104.0					1																	46977762		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977762C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.730C>T	1.37:g.46977762C>T	ENSP00000353132:p.Leu244Phe		Somatic				DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	p.L249F	NM_147192.2	NP_671725.1	WXS	Illumina GAIIx	Phase_I	Q8NFW5	DMBX1_HUMAN			4	760	+	Acute lymphoblastic leukemia(166;0.155)		249						Missense_Mutation	SNP	ENST00000360032.3	37	c.745C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145634	0.37923	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93604	-3.17;-3.25	4.49	2.42	0.29668	.	0.751551	0.11692	N	0.538761	T	0.80287	0.4595	N	0.08118	0	0.28338	N	0.921496	P;P	0.40050	0.698;0.7	B;B	0.35550	0.101;0.205	T	0.74090	-0.3777	10	0.09843	T	0.71	.	5.2806	0.15673	0.0:0.5706:0.2323:0.1971	.	249;244	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	F	249;244	ENSP00000361024:L249F;ENSP00000353132:L244F	ENSP00000353132:L244F	L	+	1	0	DMBX1	46750349	0.996000	0.38824	0.981000	0.43875	0.770000	0.43624	0.430000	0.21428	1.230000	0.43646	0.655000	0.94253	CTC		0.627	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			59	289	59	289	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161596188	161596188	+	Intron	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:161596188C>A	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR3B_ENST00000294800.3_Missense_Mutation_p.W108C			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W108C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGCAACAGCCAGCCTGAAA	0.567																																						ENST00000294800.3																			1	Substitution - Missense(1)	p.W108C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(322-324)tgG>tgT		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						36.0	40.0	38.0					1																	161596188		2189	4299	6488	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596188C>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3969G>T	1.37:g.161596188C>A			Somatic				FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron	p.W108C	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	WXS	Illumina GAIIx	Phase_I	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	597	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		108					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.324G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	17.92|17.92	3.506557|3.506557	0.64410|0.64410	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.11385	.|2.78;2.78;2.78;3.99	2.47|2.47	2.47|2.47	0.30058|0.30058	.|.	.|0.000000	.|0.48767	.|D	.|0.000168	T|T	0.27559|0.27559	0.0677|0.0677	M|M	0.92317|0.92317	3.295|3.295	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.13255|0.13255	-1.0516|-1.0516	5|10	.|0.87932	.|D	.|0	.|.	8.4977|8.4977	0.33138|0.33138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108	.|O75015	.|FCG3B_HUMAN	S|C	129|108;108;144;91	.|ENSP00000356941:W108C;ENSP00000294800:W108C;ENSP00000433642:W144C;ENSP00000437084:W91C	.|ENSP00000294800:W108C	A|W	-|-	1|3	0|0	FCGR3B|FCGR3B	159862812|159862812	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.830000|0.830000	0.47004|0.47004	3.517000|3.517000	0.53443|0.53443	1.383000|1.383000	0.46405|0.46405	0.393000|0.393000	0.25936|0.25936	GCT|TGG		0.567	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		3	50	3	50	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A617T(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1849-1851)Gca>Aca		neuroblastoma amplified sequence							138.0	136.0	137.0					2																	15608534		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15608534C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1849G>A	2.37:g.15608534C>T	ENSP00000281513:p.Ala617Thr		Somatic				NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	p.A617T	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	A2RRP1	NBAS_HUMAN			17	1874	-			617					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1849G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886252	0.72410	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.58669	1.825	0.43982	D	0.996675	D	0.89917	1.0	D	0.83275	0.996	T	0.02813	-1.1107	10	0.87932	D	0	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	617	A2RRP1	NBAS_HUMAN	T	617	ENSP00000413201:A617T;ENSP00000281513:A617T	ENSP00000281513:A617T	A	-	1	0	NBAS	15525985	1.000000	0.71417	0.172000	0.22920	0.696000	0.40369	4.933000	0.63484	2.727000	0.93392	0.650000	0.86243	GCA		0.413	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		52	254	52	254	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433																																						ENST00000396556.2																			2	Substitution - Nonsense(2)	p.W659*(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1975-1977)tgG>tgA		oxysterol binding protein-like 10							291.0	246.0	261.0					3																	31710253		2203	4300	6503	SO:0001587	stop_gained	114884				lipid transport		lipid binding	g.chr3:31710253C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1977G>A	3.37:g.31710253C>T	ENSP00000379804:p.Trp659*		Somatic				OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	p.W659*	NM_017784.4	NP_060254.2	WXS	Illumina GAIIx	Phase_I	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2099	-			659					B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	c.1977G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.147727|7.147727	0.98096|0.98096	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37291|.	-0.9712|.	3|.	.|0.02654	.|T	.|1	-13.3771|-13.3771	18.902|18.902	0.92446|0.92446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	428|659;595	.|.	.|ENSP00000379804:W659X	G|W	-|-	2|3	0|0	OSBPL10|OSBPL10	31685257|31685257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.776000|7.776000	0.85560|0.85560	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			72	242	72	242	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403																																						ENST00000356406.5																			1	Substitution - Missense(1)	p.T142A(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(424-426)Aca>Gca		acyl-CoA oxidase 3, pristanoyl							108.0	102.0	104.0					4																	8416610		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8416610T>C	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.424A>G	4.37:g.8416610T>C	ENSP00000348775:p.Thr142Ala		Somatic				ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	p.T142A	NM_003501.2	NP_003492.2	WXS	Illumina GAIIx	Phase_I	O15254	ACOX3_HUMAN			4	501	-			142					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.424A>G	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733561	0.15574	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	T;T;T;D	0.98849	0.15;0.15;0.15;-5.18	3.9	-3.57	0.04612	Acyl-CoA dehydrogenase/oxidase (1);	1.048000	0.07479	N	0.903512	D	0.93598	0.7956	N	0.11427	0.14	0.09310	N	1	B;B;B	0.14438	0.003;0.01;0.003	B;B;B	0.16289	0.007;0.015;0.003	D	0.88266	0.2926	10	0.34782	T	0.22	-2.115	6.1968	0.20553	0.0:0.3362:0.1296:0.5342	.	142;142;142	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	A	142;142;142;47	ENSP00000413994:T142A;ENSP00000348775:T142A;ENSP00000421625:T142A;ENSP00000427321:T47A	ENSP00000348775:T142A	T	-	1	0	ACOX3	8467510	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.272000	0.18644	-0.359000	0.08150	-0.290000	0.09829	ACA		0.403	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			4	109	4	109	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	rs143733086		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20033	0.001		0.0	False		,,,				2504	0.0					ENST00000313860.7																			2	Substitution - Missense(2)	p.R875W(1)|p.R490W(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1468-1470)Cgg>Tgg		LIM and calponin homology domains 1							220.0	224.0	223.0					4																	41648713		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648713C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1468C>T	4.37:g.41648713C>T	ENSP00000316891:p.Arg490Trp		Somatic				LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W	p.R490W	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			12	1522	+			490					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.1468C>T	CCDS33977.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.78	3.697333	0.68386	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.94;1.15;1.1;1.16;0.94;1.16;0.52;0.49;0.52;0.94;0.94;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.982;0.982;0.987;0.995;0.996;0.997;0.995;0.999;0.997;0.999;0.997	T	0.72384	-0.4310	10	0.87932	D	0	-18.4384	13.7854	0.63105	0.2558:0.7442:0.0:0.0	.	241;324;490;324;336;875;319;478;490;490;490	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W	319;490;490;490;490;478;875;331;874;331;324;336;324	ENSP00000425222:R319W;ENSP00000424825:R490W;ENSP00000424645:R490W;ENSP00000316891:R490W;ENSP00000427045:R490W;ENSP00000424437:R478W;ENSP00000425631:R875W;ENSP00000421242:R331W;ENSP00000426334:R331W;ENSP00000422864:R324W;ENSP00000379840:R336W;ENSP00000371172:R324W	ENSP00000316891:R490W	R	+	1	2	LIMCH1	41343470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.662000	0.37418	2.675000	0.91044	0.591000	0.81541	CGG		0.498	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		10	408	10	408	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000514591.1	+	16	2824	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000512091.2_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403																																						ENST00000512091.2																			3	Substitution - Missense(3)	p.W832L(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2494-2496)tGg>tTg		latrophilin 3							97.0	87.0	90.0					4																	62813888		1894	4116	6010	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813888G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2495G>T	4.37:g.62813888G>T	ENSP00000422533:p.Trp832Leu		Somatic				LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L	p.W832L			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			16	3242	+						GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2495G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.097063|5.097063	0.94197|0.94197	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.92595	.|-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98036|0.98036	0.9353|0.9353	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.998	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	D|D	0.98633|0.98633	1.0672|1.0672	5|10	.|0.87932	.|D	.|0	.|.	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|832;819;832	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	289|832;832;900;900;832;832;819;832;900;900;900;832;832;832;900;900;832	.|ENSP00000423388:W832L;ENSP00000422533:W832L;ENSP00000423787:W900L;ENSP00000425033:W900L;ENSP00000424120:W832L;ENSP00000439831:W832L;ENSP00000421476:W900L;ENSP00000424030:W900L;ENSP00000421372:W900L;ENSP00000425201:W832L;ENSP00000423434:W832L;ENSP00000421627:W832L;ENSP00000420931:W900L;ENSP00000425884:W900L;ENSP00000424258:W832L	.|ENSP00000280009:W832L	L|W	+|+	3|2	2|0	LPHN3|LPHN3	62496483|62496483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.865000|9.865000	0.99609|0.99609	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			14	57	14	57	---	---	---	---
SULT1E1	6783	broad.mit.edu	37	4	70721017	70721017	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTTGAACGTTACCATTCATGA	0.318																																						ENST00000226444.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.e3+1		sulfotransferase family 1E, estrogen-preferring, member 1							113.0	106.0	109.0					4																	70721017		2203	4299	6502	SO:0001630	splice_region_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70721017A>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.271+1T>A	4.37:g.70721017A>T			Somatic						NM_005420.2	NP_005411.1	WXS	Illumina GAIIx	Phase_I	P49888	ST1E1_HUMAN			3	384	-								Q8N6X5	Splice_Site	SNP	ENST00000226444.3	37		CCDS3531.1	.	.	.	.	.	.	.	.	.	.	A	7.494	0.651261	0.14516	.	.	ENSG00000109193	ENST00000226444	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3637	0.38212	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT1E1	70755606	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	2.472000	0.45136	1.981000	0.57761	0.459000	0.35465	.		0.318	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	Intron	10	74	10	74	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123192755	123192755	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					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)		p.V2692V(1)		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						CAATTACAGTGTCAGAACAAA	0.373																																						ENST00000264501.4																			1	Substitution - coding silent(1)	p.V2692V(1)	prostate(1)	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.(8074-8076)gtG>gtA		KIAA1109							67.0	65.0	65.0					4																	123192755		1905	4121	6026	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192755G>A	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.8076G>A	4.37:g.123192755G>A			Somatic				KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V	p.V2692V			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			47	8449	+			2692					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8076G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.552|6.552	0.470217|0.470217	0.12461|0.12461	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000419325	.|T	.|0.49139	.|0.79	5.88|5.88	2.31|2.31	0.28768|0.28768	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.48840|0.48840	0.1522|0.1522	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	4|7	.|0.52906	.|T	.|0.07	.|.	5.4879|5.4879	0.16759|0.16759	0.2679:0.0:0.6046:0.1275|0.2679:0.0:0.6046:0.1275	.|.	.|.	.|.	.|.	Y|I	1265|650	.|ENSP00000393219:V650I	.|ENSP00000393219:V650I	C|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123412205|123412205	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	3.217000|3.217000	0.51184|0.51184	0.127000|0.127000	0.18452|0.18452	-0.225000|-0.225000	0.12378|0.12378	TGT|GTC		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	89	5	89	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393																																						ENST00000296525.3																			1	Substitution - Missense(1)	p.V44L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(130-132)Gtg>Ctg		ankyrin repeat and SOCS box containing 5							109.0	99.0	102.0					4																	177190130		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190130C>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.130G>C	4.37:g.177190130C>G	ENSP00000296525:p.Val44Leu		Somatic					p.V44L	NM_080874.3	NP_543150.1	WXS	Illumina GAIIx	Phase_I	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	243	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	44					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.130G>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820571	0.90873	.	.	ENSG00000164122	ENST00000296525	T	0.40476	1.03	5.84	5.84	0.93424	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.32530	0.975	0.80722	D	1	D	0.53745	0.962	P	0.51866	0.682	T	0.17806	-1.0357	10	0.33940	T	0.23	-20.4979	20.1466	0.98079	0.0:1.0:0.0:0.0	.	44	Q8WWX0	ASB5_HUMAN	L	44	ENSP00000296525:V44L	ENSP00000296525:V44L	V	-	1	0	ASB5	177427124	1.000000	0.71417	0.972000	0.41901	0.914000	0.54420	4.884000	0.63135	2.779000	0.95612	0.591000	0.81541	GTG		0.393	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			7	128	7	128	---	---	---	---
RWDD4	201965	broad.mit.edu	37	4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	164								p.G164R(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289																																						ENST00000326397.5																			1	Substitution - Missense(1)	p.G164R(1)	prostate(1)	large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(490-492)Gga>Cga		RWD domain containing 4							59.0	67.0	64.0					4																	184567682		2198	4290	6488	SO:0001583	missense	201965							g.chr4:184567682C>G	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.490G>C	4.37:g.184567682C>G	ENSP00000388920:p.Gly164Arg		Somatic				RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R	p.G164R	NM_152682.2	NP_689895.2	WXS	Illumina GAIIx	Phase_I	Q6NW29	RWDD4_HUMAN			6	762	-			164					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.490G>C	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463466	0.84425	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.57436	0.56;0.55;0.4;0.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81145	-0.1066	10	0.59425	D	0.04	-15.3016	18.7379	0.91763	0.0:1.0:0.0:0.0	.	164	Q6NW29	RWDD4_HUMAN	R	164;164;69;101	ENSP00000388920:G164R;ENSP00000332177:G164R;ENSP00000426329:G69R;ENSP00000423598:G101R	ENSP00000388920:G164R	G	-	1	0	RWDD4	184804676	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.055000	0.76656	2.421000	0.82119	0.561000	0.74099	GGA		0.289	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		8	254	8	254	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632																																						ENST00000302006.3																			1	Substitution - Missense(1)	p.R182C(1)	prostate(1)	biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(544-546)Cgc>Tgc		iroquois homeobox 1							111.0	93.0	99.0					5																	3599606		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599606C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.544C>T	5.37:g.3599606C>T	ENSP00000305244:p.Arg182Cys		Somatic				CTD-2012M11.3_ENST00000559410.1_RNA	p.R182C	NM_024337.3	NP_077313.3	WXS	Illumina GAIIx	Phase_I	P78414	IRX1_HUMAN			2	596	+			182					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.544C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847673	0.71603	.	.	ENSG00000170549	ENST00000302006	D	0.99841	-7.09	4.71	4.71	0.59529	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.052249	0.64402	D	0.000001	D	0.99900	0.9952	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95971	0.8970	10	0.87932	D	0	.	17.2922	0.87160	0.0:1.0:0.0:0.0	.	182	P78414	IRX1_HUMAN	C	182	ENSP00000305244:R182C	ENSP00000305244:R182C	R	+	1	0	IRX1	3652606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.994000	0.49433	2.125000	0.65367	0.655000	0.94253	CGC		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		22	124	22	124	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74091853	74091853	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A							membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368																																						ENST00000389156.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.e11+1		family with sequence similarity 169, member A							214.0	200.0	204.0					5																	74091853		1944	4138	6082	SO:0001630	splice_region_variant	26049							g.chr5:74091853A>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1260+1T>C	5.37:g.74091853A>G			Somatic				FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site		NM_015566.2	NP_056381.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X4	F169A_HUMAN			11	1351	-								A8K1T9|Q6MZT0|Q9H989	Splice_Site	SNP	ENST00000389156.4	37		CCDS43330.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272822	0.23221	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3534	0.49602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM169A	74127609	0.999000	0.42202	0.907000	0.35723	0.033000	0.12548	4.715000	0.61909	2.185000	0.69588	0.482000	0.46254	.		0.368	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		Intron	5	371	5	371	---	---	---	---
TRIM36	55521	broad.mit.edu	37	5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000282369.3	-	9	1683	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000513154.1_Missense_Mutation_p.C509Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368																																						ENST00000513154.1																			2	Substitution - Missense(2)	p.C521Y(2)	prostate(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1525-1527)tGt>tAt		tripartite motif containing 36							70.0	71.0	71.0					5																	114466559		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466559C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1562G>A	5.37:g.114466559C>T	ENSP00000282369:p.Cys521Tyr		Somatic				TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y	p.C509Y			WXS	Illumina GAIIx	Phase_I	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	1852	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	521			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1526G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309039	0.81247	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60424	0.19;0.19;0.19	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.85130	0.997;0.938	T	0.63972	-0.6516	10	0.13853	T	0.58	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	509;521	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	521;509;366	ENSP00000282369:C521Y;ENSP00000423934:C509Y;ENSP00000424259:C366Y	ENSP00000282369:C521Y	C	-	2	0	TRIM36	114494458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.234000	0.78134	2.739000	0.93911	0.467000	0.42956	TGT		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		25	119	25	119	---	---	---	---
TEX43	389320	broad.mit.edu	37	5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378																																						ENST00000357147.3																			1	Substitution - Missense(1)	p.P12R(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(34-36)cCt>cGt		chromosome 5 open reading frame 48							203.0	178.0	187.0					5																	125967461		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125967461C>G																												ENST00000357147.3:c.35C>G	5.37:g.125967461C>G	ENSP00000349669:p.Pro12Arg		Somatic					p.P12R	NM_207408.1	NP_997291.1	WXS	Illumina GAIIx	Phase_I	Q6ZNM6	CE048_HUMAN			1	48	+			12						Missense_Mutation	SNP	ENST00000357147.3	37	c.35C>G	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698611	0.48307	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.96	3.96	0.45880	.	0.000000	0.43260	D	0.000581	T	0.50939	0.1645	L	0.32530	0.975	0.19300	N	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.35822	-0.9773	9	0.87932	D	0	-15.6	11.7982	0.52112	0.0:1.0:0.0:0.0	.	12	Q6ZNM6	CE048_HUMAN	R	12	.	ENSP00000349669:P12R	P	+	2	0	C5orf48	125995360	0.247000	0.23920	0.182000	0.23118	0.040000	0.13550	2.981000	0.49329	2.495000	0.84180	0.561000	0.74099	CCT		0.378	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			5	170	5	170	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		3	Substitution - Missense(3)	p.E491K(3)	prostate(3)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1471-1473)Gaa>Aaa		nuclear receptor binding SET domain protein 1							84.0	85.0	85.0					5																	176636871		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636871G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1471G>A	5.37:g.176636871G>A	ENSP00000395929:p.Glu491Lys	HNSCC(47;0.14)	Somatic				NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K	p.E491K	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1516	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	491					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1471G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236323	0.79800	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.06;-3.06;-3.06;-3.16	5.5	5.5	0.81552	.	0.188772	0.37483	N	0.002072	D	0.91192	0.7225	N	0.19112	0.55	0.33633	D	0.606269	P;P;P	0.51933	0.867;0.949;0.791	P;P;B	0.51615	0.542;0.675;0.34	D	0.92381	0.5913	9	.	.	.	.	17.1785	0.86848	0.0:0.0:1.0:0.0	.	222;388;491	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	222;222;491;222;388	ENSP00000346111:E222K;ENSP00000395929:E491K;ENSP00000343209:E222K;ENSP00000354310:E388K	.	E	+	1	0	NSD1	176569477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.773000	0.62331	2.587000	0.87381	0.591000	0.81541	GAA		0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	115	29	115	---	---	---	---
FRMD1	79981	broad.mit.edu	37	6	168461475	168461475	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:168461475G>T	ENST00000283309.6	-	9	1372	c.1308C>A	c.(1306-1308)agC>agA	p.S436R	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R|FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	436						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGTGGCTGCGGCTGGTCCTGG	0.662																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1306-1308)agC>agA		FERM domain containing 1							36.0	35.0	35.0					6																	168461475		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461475G>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1308C>A	6.37:g.168461475G>T	ENSP00000283309:p.Ser436Arg		Somatic				FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R	p.S436R	NM_024919.3	NP_079195.3	WXS	Illumina GAIIx	Phase_I	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1372	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	436					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1308C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338867	0.41398	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.46819	0.86;0.86;0.86	2.48	1.6	0.23607	.	1.003710	0.08045	U	0.995776	T	0.39517	0.1081	L	0.36672	1.1	0.41473	D	0.988114	D;D;B;D	0.89917	1.0;1.0;0.095;1.0	D;D;B;D	0.76071	0.987;0.987;0.056;0.987	T	0.48811	-0.9002	10	0.16896	T	0.51	.	9.4483	0.38710	0.1106:0.0:0.8894:0.0	.	371;436;368;331	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	R	436;368;207	ENSP00000283309:S436R;ENSP00000414115:S368R;ENSP00000440078:S207R	ENSP00000283309:S436R	S	-	3	2	FRMD1	168204324	1.000000	0.71417	0.031000	0.17742	0.010000	0.07245	4.281000	0.58965	0.380000	0.24823	-0.657000	0.03884	AGC		0.662	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		3	36	3	36	---	---	---	---
ZNRF2	223082	broad.mit.edu	37	7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294																																						ENST00000323037.4																			1	Substitution - Missense(1)	p.H239N(1)	prostate(1)	breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(715-717)Cac>Aac		zinc and ring finger 2							91.0	94.0	93.0					7																	30402036		2203	4300	6503	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30402036C>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.715C>A	7.37:g.30402036C>A	ENSP00000323879:p.His239Asn		Somatic					p.H239N	NM_147128.3	NP_667339.1	WXS	Illumina GAIIx	Phase_I	Q8NHG8	ZNRF2_HUMAN			4	1766	+			239						Missense_Mutation	SNP	ENST00000323037.4	37	c.715C>A	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729138	0.48833	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	.	.	.	5.2	5.2	0.72013	Zinc finger, RING-type (2);	0.079254	0.49305	U	0.000152	T	0.79656	0.4483	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.82232	-0.0559	9	0.87932	D	0	-6.6561	17.7134	0.88328	0.0:1.0:0.0:0.0	.	239	Q8NHG8	ZNRF2_HUMAN	N	239;177	.	ENSP00000326497:H177N	H	+	1	0	ZNRF2	30368561	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.053000	0.71089	2.419000	0.82065	0.585000	0.79938	CAC		0.294	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		19	106	19	106	---	---	---	---
POT1	25913	broad.mit.edu	37	7	124537227	124537227	+	Start_Codon_SNP	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	ENST00000357628.3	-	5	599	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_ENST00000461288.1_5'Flank|POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	1					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			3	Substitution - Missense(3)	p.M1V(2)|p.M1L(1)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1-3)Atg>Gtg		protection of telomeres 1							60.0	63.0	62.0					7																	124537227		2191	4269	6460	SO:0001582	initiator_codon_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124537227T>C	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1A>G	7.37:g.124537227T>C	ENSP00000350249:p.Met1Val		Somatic				POT1_ENST00000393329.1_5'UTR	p.M1V	NM_015450.2	NP_056265.2	WXS	Illumina GAIIx	Phase_I	Q9NUX5	POTE1_HUMAN			5	599	-			1					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Translation_Start_Site	SNP	ENST00000357628.3	37	c.1A>G	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836564	0.32421	.	.	ENSG00000128513	ENST00000357628;ENST00000446993	T	0.42513	0.97	5.13	3.96	0.45880	.	0.683997	0.13888	N	0.355790	T	0.33323	0.0859	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29336	-1.0015	9	0.87932	D	0	-29.9186	7.943	0.29969	0.0:0.0979:0.0:0.9021	.	1	Q9NUX5	POTE1_HUMAN	V	1	ENSP00000350249:M1V	ENSP00000350249:M1V	M	-	1	0	POT1	124324463	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	2.279000	0.43435	2.063000	0.61619	0.533000	0.62120	ATG		0.303	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Missense_Mutation	22	95	22	95	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.A680V(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2038-2040)gCa>gTa		retinitis pigmentosa 1 (autosomal dominant)							38.0	39.0	39.0					8																	55538481		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538481C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2039C>T	8.37:g.55538481C>T	ENSP00000220676:p.Ala680Val		Somatic					p.A680V	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2187	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	680						Missense_Mutation	SNP	ENST00000220676.1	37	c.2039C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.216857	0.00286	.	.	ENSG00000104237	ENST00000220676	T	0.18657	2.2	5.93	1.84	0.25277	.	0.637755	0.13939	N	0.352326	T	0.03305	0.0096	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.07644	T	0.81	.	1.5798	0.02632	0.1203:0.1629:0.2297:0.4871	.	680	P56715	RP1_HUMAN	V	680	ENSP00000220676:A680V	ENSP00000220676:A680V	A	+	2	0	RP1	55701034	0.001000	0.12720	0.005000	0.12908	0.014000	0.08584	0.341000	0.19909	0.420000	0.25954	-0.218000	0.12543	GCA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	69	5	69	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	36923352	36923352	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	PAX5_ENST00000377852.2_Splice_Site_p.G304W|PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	24	Unknown(23)|Substitution - Missense(1)	p.?(23)|p.G304C(1)	haematopoietic_and_lymphoid_tissue(23)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(910-912)Ggc>Tgc		paired box 5							54.0	57.0	56.0					9																	36923352		2203	4299	6502	SO:0001630	splice_region_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923352C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.910+1G>T	9.37:g.36923352C>A			Somatic				PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000377852.2_Splice_Site_p.G304W	p.G304C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	WXS	Illumina GAIIx	Phase_I	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	984	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	304				Breakpoint for translocation to form PAX5-ZNF521.	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	c.910G>T	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822234|4.822234	0.90873|0.90873	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340|ENST00000377852;ENST00000446742	T;T;T;T;D;T;D;T|T;T	0.98164|0.43688	0.22;0.22;0.22;0.22;-2.61;0.22;-4.76;0.22|0.94;0.94	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.052589|0.052589	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68924|0.68924	0.3054|0.3054	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;1.0	D;D;D;D;D;D|D;D	0.97110|0.97110	0.999;1.0;0.996;1.0;0.999;0.999|1.0;0.999	T|T	0.71251|0.71251	-0.4648|-0.4648	10|10	0.41790|0.87932	T|D	0.15|0	.|.	19.1082|19.1082	0.93305|0.93305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	261;261;304;131;304;304|238;304	C0KTF8;C0KTF7;C0KTF6;C0KTE2;Q6S730;Q02548|C0KTF9;Q6S731	.;.;.;.;.;PAX5_HUMAN|.;.	C|W	304;215;304;261;196;196;261;304;131|304;238	ENSP00000350844:G304C;ENSP00000367084:G304C;ENSP00000430773:G261C;ENSP00000429359:G196C;ENSP00000429197:G196C;ENSP00000412188:G261C;ENSP00000367078:G304C;ENSP00000429404:G131C|ENSP00000367083:G304W;ENSP00000404687:G238W	ENSP00000350844:G304C|ENSP00000367083:G304W	G|G	-|-	1|1	0|0	PAX5|PAX5	36913352|36913352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.657000|6.657000	0.74402|0.74402	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.607	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Missense_Mutation	40	131	40	131	---	---	---	---
ZFAND5	7763	broad.mit.edu	37	9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343																																						ENST00000237937.3																			1	Substitution - Missense(1)	p.V206G(1)	prostate(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(616-618)gTg>gGg		zinc finger, AN1-type domain 5							62.0	60.0	60.0					9																	74970894		2202	4293	6495	SO:0001583	missense	7763						DNA binding|zinc ion binding	g.chr9:74970894A>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.617T>G	9.37:g.74970894A>C	ENSP00000237937:p.Val206Gly		Somatic				ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G	p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	WXS	Illumina GAIIx	Phase_I	O76080	ZFAN5_HUMAN			6	1174	-			206					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.617T>G	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420761	0.62622	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431	.	.	.	5.99	5.99	0.97316	Zinc finger, AN1-type (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.80348	-0.1420	9	0.87932	D	0	-7.6087	16.4943	0.84223	1.0:0.0:0.0:0.0	.	206	O76080	ZFAN5_HUMAN	G	206	.	ENSP00000237937:V206G	V	-	2	0	ZFAND5	74160714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	GTG		0.343	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			19	104	19	104	---	---	---	---
C10orf105	414152	broad.mit.edu	37	10	73472477	73472477	+	3'UTR	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:73472477C>A	ENST00000441508.2	-	0	3817				C10orf105_ENST00000398786.2_3'UTR|CDH23_ENST00000224721.6_Silent_p.V1097V	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.V1097V(1)									TCGTCACTGTCCTGGATGTGA	0.582																																						ENST00000224721.6																			1	Substitution - coding silent(1)	p.V1097V(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3289-3291)gtC>gtA		cadherin-related 23							55.0	60.0	59.0					10																	73472477		2091	4213	6304	SO:0001624	3_prime_UTR_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73472477C>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3216G>T	10.37:g.73472477C>A			Somatic				C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	p.V1097V	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			27	3296	+			1092			Cadherin 10.			Silent	SNP	ENST00000441508.2	37	c.3291C>A	CCDS44430.1																																																																																				0.582	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		3	39	3	39	---	---	---	---
TM7SF2	7108	broad.mit.edu	37	11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			1	Substitution - Missense(1)	p.P162S(1)	prostate(1)	lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(484-486)Cct>Tct		transmembrane 7 superfamily member 2							84.0	95.0	92.0					11																	64880871		1994	4152	6146	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880871C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.484C>T	11.37:g.64880871C>T	ENSP00000279263:p.Pro162Ser		Somatic	OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S	p.P162S	NM_003273.2	NP_003264.2	WXS	Illumina GAIIx	Phase_I	O76062	ERG24_HUMAN			4	646	+			162					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.484C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135651	0.37728	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	4.81	4.81	0.61882	.	0.059313	0.64402	D	0.000003	D	0.95953	0.8682	M	0.65498	2.005	0.39304	D	0.964951	B;P;B	0.36789	0.082;0.57;0.425	B;B;B	0.36378	0.036;0.142;0.223	D	0.95709	0.8756	10	0.12103	T	0.63	-15.5827	15.4064	0.74881	0.0:1.0:0.0:0.0	.	46;162;162	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	S	162;133;94;46;133;162;162	ENSP00000279263:P162S;ENSP00000435972:P133S;ENSP00000432187:P94S;ENSP00000441215:P46S;ENSP00000433325:P133S;ENSP00000329520:P162S;ENSP00000433275:P162S	ENSP00000279263:P162S	P	+	1	0	TM7SF2	64637447	0.943000	0.32029	1.000000	0.80357	0.816000	0.46133	2.929000	0.48916	2.498000	0.84270	0.561000	0.74099	CCT		0.587	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		55	170	55	170	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000540793.1	+	13	3512	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	ATF7IP_ENST00000544627.1_Missense_Mutation_p.Q1127H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383																																						ENST00000544627.1																			1	Substitution - Missense(1)	p.Q1119H(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3379-3381)caG>caC		activating transcription factor 7 interacting protein							122.0	92.0	102.0					12																	14649241		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649241G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3357G>C	12.37:g.14649241G>C	ENSP00000444589:p.Gln1119His		Somatic				ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H	p.Q1127H			WXS	Illumina GAIIx	Phase_I	Q6VMQ6	MCAF1_HUMAN			14	3701	+			1119					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3381G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581413	0.65992	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000010	T	0.47060	0.1425	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.40608	-0.9554	10	0.72032	D	0.01	-7.1868	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1118;1119	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	H	1119;1118;1127;1119	ENSP00000261168:Q1119H;ENSP00000445955:Q1118H;ENSP00000440440:Q1127H;ENSP00000444589:Q1119H	ENSP00000261168:Q1119H	Q	+	3	2	ATF7IP	14540508	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	3.338000	0.52128	2.669000	0.90835	0.643000	0.83706	CAG		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		19	59	19	59	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56481946	56481946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:56481946C>A	ENST00000267101.3	+	7	1314	c.874C>A	c.(874-876)Cat>Aat	p.H292N	ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	292					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.H292N(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGCTGTCCCCGTAAGTGTCT	0.443																																						ENST00000267101.3																			2	Substitution - Missense(2)	p.H292N(2)	prostate(2)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(874-876)Cat>Aat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							56.0	52.0	54.0					12																	56481946		2203	4300	6503	SO:0001630	splice_region_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481946C>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.874+1C>A	12.37:g.56481946C>A			Somatic				ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron	p.H292N	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1314	+			292					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.874C>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585515	0.46110	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.61859	0.07;0.07	4.89	4.89	0.63831	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.094778	0.47093	D	0.000257	T	0.64832	0.2634	M	0.71206	2.165	0.80722	D	1	B	0.17038	0.02	B	0.35550	0.205	T	0.65664	-0.6113	10	0.56958	D	0.05	.	16.987	0.86342	0.0:1.0:0.0:0.0	.	292	P21860	ERBB3_HUMAN	N	292;292;233	ENSP00000267101:H292N;ENSP00000408340:H233N	ENSP00000267101:H292N	H	+	1	0	ERBB3	54768213	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.359000	0.52292	2.542000	0.85734	0.563000	0.77884	CAT		0.443	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation	3	81	3	81	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000551964.1	+	4	1247	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000357310.1_Missense_Mutation_p.H171Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383																																						ENST00000357310.1																			1	Substitution - Missense(1)	p.H171Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(511-513)Cat>Tat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						84.0	77.0	79.0					12																	99043447		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99043447C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.511C>T	12.37:g.99043447C>T	ENSP00000448165:p.His171Tyr		Somatic				APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	p.H171Y	NM_181868.1	NP_863658.1	WXS	Illumina GAIIx	Phase_I	O14727	APAF_HUMAN			4	1088	+			171			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.511C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017739	0.75161	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.55	4.65	0.58169	NB-ARC (1);	0.134889	0.64402	D	0.000002	T	0.81408	0.4816	L	0.53249	1.67	0.48830	D	0.999718	D;D;D;D;P	0.71674	0.984;0.998;0.996;0.986;0.926	P;D;P;P;P	0.64042	0.795;0.921;0.906;0.674;0.795	T	0.78183	-0.2303	10	0.02654	T	1	-8.4611	15.7191	0.77694	0.1381:0.8619:0.0:0.0	.	171;171;160;171;160	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	171;160;171;171;171;171;160;171;171	ENSP00000448165:H171Y;ENSP00000353059:H160Y;ENSP00000349862:H171Y;ENSP00000341830:H171Y;ENSP00000334558:H171Y;ENSP00000448826:H171Y;ENSP00000448449:H160Y;ENSP00000449791:H171Y;ENSP00000448161:H171Y	ENSP00000334558:H171Y	H	+	1	0	APAF1	97567578	1.000000	0.71417	0.973000	0.42090	0.867000	0.49689	5.760000	0.68793	1.324000	0.45282	-0.181000	0.13052	CAT		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		5	58	5	58	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.A383T(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1147-1149)Gcc>Acc		tubulin, alpha 3c							92.0	82.0	86.0					13																	19748209		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748209C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1147G>A	13.37:g.19748209C>T	ENSP00000382982:p.Ala383Thr		Somatic					p.A383T	NM_006001.2	NP_005992.1	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1251	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	383					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1147G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.705932	0.48412	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84298	-1.83	1.22	1.22	0.21188	.	0.000000	0.46758	U	0.000267	D	0.86556	0.5961	.	.	.	0.44241	D	0.997085	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	T	383	ENSP00000382982:A383T	ENSP00000354037:A383T	A	-	1	0	TUBA3C	18646209	1.000000	0.71417	0.930000	0.37139	0.923000	0.55619	6.342000	0.72982	0.982000	0.38575	0.194000	0.17425	GCC		0.637	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		42	85	42	85	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral component of membrane (GO:0016021)		p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375915.2																			1	Substitution - Missense(1)	p.F322L(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(964-966)Ttt>Ctt		family with sequence similarity 155, member A							100.0	95.0	97.0					13																	107863055		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107863055A>G	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.964T>C	13.37:g.107863055A>G	ENSP00000365080:p.Phe322Leu		Somatic	OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407		p.F322L	NM_001080396.2	NP_001073865.1	WXS	Illumina GAIIx	Phase_I	B1AL88	F155A_HUMAN			2	1102	-			322					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.964T>C	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	9.075	0.997927	0.19043	.	.	ENSG00000204442	ENST00000375915	T	0.10668	2.85	5.86	3.48	0.39840	.	0.532999	0.21098	N	0.080213	T	0.04363	0.0120	N	0.04508	-0.205	0.32090	N	0.591964	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.11485	T	0.65	.	8.6927	0.34275	0.8436:0.0:0.1564:0.0	.	322	B1AL88	F155A_HUMAN	L	322	ENSP00000365080:F322L	ENSP00000365080:F322L	F	-	1	0	FAM155A	106661056	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	2.002000	0.40835	0.489000	0.27749	0.528000	0.53228	TTT		0.408	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		22	102	22	102	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A	rs528251144		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502																																						ENST00000337451.3																			1	Substitution - Missense(1)	p.I163L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(544-546)Ata>Tta		non imprinted in Prader-Willi/Angelman syndrome 2							74.0	65.0	68.0					15																	23006760		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006760T>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.544A>T	15.37:g.23006760T>A	ENSP00000337618:p.Ile182Leu		Somatic				NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L	p.I182L	NM_030922.6	NP_112184.4	WXS	Illumina GAIIx	Phase_I	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1156	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	182					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.544A>T	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813963	0.90790	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	L	0.48935	1.535	0.80722	D	1	B;P	0.44429	0.264;0.835	B;P	0.49477	0.263;0.612	D	0.90572	0.4523	10	0.44086	T	0.13	-15.5158	16.1778	0.81874	0.0:0.0:0.0:1.0	.	163;182	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	L	182;182;163;182;163	ENSP00000337618:I182L;ENSP00000381096:I182L;ENSP00000352762:I163L;ENSP00000437746:I182L	ENSP00000337618:I182L	I	-	1	0	NIPA2	20558201	1.000000	0.71417	0.887000	0.34795	0.961000	0.63080	6.180000	0.71981	2.279000	0.76181	0.533000	0.62120	ATA		0.502	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		3	74	3	74	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672																																						ENST00000290378.4																			1	Substitution - Missense(1)	p.R41W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(121-123)Cgg>Tgg		actin, alpha, cardiac muscle 1							18.0	21.0	20.0					15																	35086889		2179	4268	6447	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086889G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.121C>T	15.37:g.35086889G>A	ENSP00000290378:p.Arg41Trp		Somatic				RP11-814P5.1_ENST00000503496.1_RNA	p.R41W	NM_005159.4	NP_005150.1	WXS	Illumina GAIIx	Phase_I	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	776	-		all_lung(180;2.3e-08)	41					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.121C>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913979	0.72983	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92699	-3.09	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000045	D	0.97015	0.9025	H	0.97291	3.975	0.58432	D	0.999999	D	0.65815	0.995	D	0.63957	0.92	D	0.97734	1.0204	10	0.87932	D	0	.	12.1272	0.53922	0.0:0.0:0.7815:0.2185	.	41	P68032	ACTC_HUMAN	W	41	ENSP00000290378:R41W	ENSP00000290378:R41W	R	-	1	2	ACTC1	32874181	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.054000	0.49908	2.064000	0.61679	0.561000	0.74099	CGG		0.672	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		9	47	9	47	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			1	Substitution - Missense(1)	p.E482G(1)	prostate(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1444-1446)gAa>gGa		iron-responsive element binding protein 2							98.0	90.0	92.0					15																	78777134		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78777134A>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1445A>G	15.37:g.78777134A>G	ENSP00000258886:p.Glu482Gly		Somatic					p.E482G	NM_004136.2	NP_004127	WXS	Illumina GAIIx	Phase_I	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	12	1594	+			482					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1445A>G	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496307	0.64186	.	.	ENSG00000136381	ENST00000258886	T	0.18016	2.24	5.72	5.72	0.89469	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.086938	0.85682	D	0.000000	T	0.24812	0.0602	L	0.49640	1.575	0.80722	D	1	P	0.47484	0.896	P	0.46510	0.519	T	0.00706	-1.1601	10	0.59425	D	0.04	6.0076	16.2962	0.82776	1.0:0.0:0.0:0.0	.	482	P48200	IREB2_HUMAN	G	482	ENSP00000258886:E482G	ENSP00000258886:E482G	E	+	2	0	IREB2	76564189	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.065000	0.93941	2.304000	0.77564	0.528000	0.53228	GAA		0.333	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		3	139	3	139	---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			1	Substitution - Missense(1)	p.I272V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)Att>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							227.0	199.0	208.0					15																	89811688		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89811688A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.814A>G	15.37:g.89811688A>G	ENSP00000310842:p.Ile272Val		Somatic				FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	p.I272V	NM_001113378.1	NP_001106849.1	WXS	Illumina GAIIx	Phase_I	Q9NVI1	FANCI_HUMAN			10	900	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		272					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.814A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703930	0.48412	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.48201	0.82;0.82;0.82	4.68	4.68	0.58851	.	0.057562	0.64402	D	0.000002	T	0.50309	0.1608	M	0.76002	2.32	0.80722	D	1	B;P;P	0.37525	0.123;0.454;0.598	B;B;B	0.41374	0.084;0.269;0.355	T	0.54125	-0.8340	10	0.49607	T	0.09	-16.2137	9.5302	0.39189	0.9161:0.0:0.0839:0.0	.	272;272;272	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	V	272	ENSP00000300027:I272V;ENSP00000310842:I272V;ENSP00000413249:I272V	ENSP00000300027:I272V	I	+	1	0	FANCI	87612692	1.000000	0.71417	0.887000	0.34795	0.947000	0.59692	5.717000	0.68446	1.741000	0.51731	0.459000	0.35465	ATT		0.413	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		9	358	9	358	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81944188	81944188	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647																																						ENST00000359376.3																			3	Substitution - coding silent(3)	p.Y599Y(3)	prostate(3)	NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1795-1797)taC>taT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							147.0	163.0	157.0					16																	81944188		2149	4257	6406	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944188C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1797C>T	16.37:g.81944188C>T			Somatic					p.Y599Y	NM_002661.3	NP_002652.2	WXS	Illumina GAIIx	Phase_I	P16885	PLCG2_HUMAN			18	2011	+			599			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1797C>T	CCDS42204.1																																																																																				0.647	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			6	230	6	230	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000431387.4_Missense_Mutation_p.H415Y|NF1_ENST00000356175.3_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Missense(2)	p.0?(8)|p.?(6)|p.H415Y(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|prostate(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1243-1245)Cat>Tat		neurofibromin 1							86.0	96.0	93.0					17																	29528486		2203	4294	6497	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528486C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1243C>T	17.37:g.29528486C>T	ENSP00000351015:p.His415Tyr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	p.H415Y	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1626	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	415					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1243C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	2.566	-0.300741	0.05495	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.17	5.17	0.71159	Armadillo-type fold (1);	0.047722	0.85682	D	0.000000	T	0.80110	0.4563	N	0.25380	0.74	0.80722	D	1	B;D;B;D;D	0.56968	0.007;0.978;0.024;0.977;0.977	B;P;B;P;P	0.61328	0.003;0.887;0.01;0.709;0.709	T	0.73861	-0.3849	10	0.02654	T	1	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	415;415;415;415;415	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	Y	415;415;415;81	ENSP00000412921:H415Y;ENSP00000351015:H415Y;ENSP00000348498:H415Y;ENSP00000389907:H81Y	ENSP00000348498:H415Y	H	+	1	0	NF1	26552612	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.440000	0.66563	2.412000	0.81896	0.491000	0.48974	CAT		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	286	5	286	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42293127	42293127	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493																																						ENST00000302904.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.F123F(1)|p.F123delF(1)	prostate(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(367-369)ttC>ttT		upstream binding transcription factor, RNA polymerase I							93.0	98.0	96.0					17																	42293127		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293127G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.369C>T	17.37:g.42293127G>A			Somatic				UBTF_ENST00000393606.3_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F	p.F123F			WXS	Illumina GAIIx	Phase_I	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	861	-		Breast(137;0.00765)|Prostate(33;0.0181)	123					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.369C>T	CCDS11480.1																																																																																				0.493	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		51	138	51	138	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267452	66267452	+	Silent	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463																																						ENST00000327268.4																			1	Substitution - coding silent(1)	p.L283L(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(847-849)ctA>ctG		solute carrier family 16, member 6	Pyruvic acid(DB00119)						55.0	57.0	56.0					17																	66267452		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267452T>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.849A>G	17.37:g.66267452T>C			Somatic				SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	p.L283L	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1013	-	all_cancers(12;1.24e-09)		283					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.849A>G	CCDS11675.1																																																																																				0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		3	123	3	123	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.H11511Y(1)|p.H7144Y(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34531-34533)Cat>Tat		mucin 16, cell surface associated							146.0	143.0	144.0					19																	9047100		2058	4206	6264	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047100G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34531C>T	19.37:g.9047100G>A	ENSP00000381008:p.His11511Tyr		Somatic					p.H11511Y	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	34734	-			11513			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34531C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.823	0.152973	0.09185	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	2.56	-0.892	0.10570	.	.	.	.	.	T	0.02455	0.0075	L	0.46157	1.445	.	.	.	B	0.16603	0.018	B	0.15484	0.013	T	0.30297	-0.9983	8	0.87932	D	0	.	5.1579	0.15044	0.4547:0.0:0.5453:0.0	.	11511	B5ME49	.	Y	11511	ENSP00000381008:H11511Y	ENSP00000381008:H11511Y	H	-	1	0	MUC16	8908100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.699000	0.05087	-0.103000	0.12175	0.586000	0.80456	CAT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		53	140	53	140	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574557	22574557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:22574557C>A	ENST00000357774.5	-	4	1601	c.1480G>T	c.(1480-1482)Gaa>Taa	p.E494*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E494Q(2)|p.E494*(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCACATTCTTCACATTTG	0.403																																						ENST00000357774.5																			4	Substitution - Missense(2)|Substitution - Nonsense(2)	p.E494Q(2)|p.E494*(2)	prostate(2)|lung(2)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1480-1482)Gaa>Taa		zinc finger protein 98							81.0	72.0	75.0					19																	22574557		2188	4282	6470	SO:0001587	stop_gained	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574557C>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1480G>T	19.37:g.22574557C>A	ENSP00000350418:p.Glu494*		Somatic					p.E494*	NM_001098626.1	NP_001092096.1	WXS	Illumina GAIIx	Phase_I	A6NK75	ZNF98_HUMAN			4	1601	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	494						Nonsense_Mutation	SNP	ENST00000357774.5	37	c.1480G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256807	0.39896	.	.	ENSG00000197360	ENST00000357774	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.6413	0.12550	0.0:0.4205:0.4069:0.1726	.	.	.	.	X	494	.	ENSP00000350418:E494X	E	-	1	0	ZNF98	22366397	0.000000	0.05858	0.004000	0.12327	0.051000	0.14879	-1.056000	0.03489	-0.229000	0.09854	0.289000	0.19496	GAA		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	183	4	183	---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42312921	42312921	+	Silent	SNP	G	G	A	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral component of membrane (GO:0016021)		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607													g|||	5	0.000998403	0.0038	0.0	5008	,	,		16945	0.0		0.0	False		,,,				2504	0.0					ENST00000357396.3																			1	Substitution - coding silent(1)	p.A165A(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(493-495)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 3		G		3,4403	6.2+/-15.9	0,3,2200	140.0	137.0	138.0		495	-5.7	0.0	19	dbSNP_129	138	0,8600		0,0,4300	no	coding-synonymous	CEACAM3	NM_001815.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		165/253	42312921	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42312921G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.495G>A	19.37:g.42312921G>A			Somatic				CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A	p.A165A	NM_001815.2	NP_001806.2	WXS	Illumina GAIIx	Phase_I	P40198	CEAM3_HUMAN			3	736	+			165					G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.495G>A	CCDS12586.2																																																																																				0.607	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		72	282	72	282	---	---	---	---
