#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CECR2	27443	broad.mit.edu	37	22	18029034	18029034	+	Silent	SNP	C	C	A	rs367797204		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr22:18029034C>A	ENST00000400585.2	+	17	4003	c.3565C>A	c.(3565-3567)Cgg>Agg	p.R1189R	CECR2_ENST00000400573.5_Silent_p.R1331R|CECR2_ENST00000262608.8_Silent_p.R1332R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1373					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TACCCCTCAGCGGCCGGCCAG	0.622																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3994-3996)Cgg>Agg		cat eye syndrome chromosome region, candidate 2							47.0	53.0	51.0					22																	18029034		1929	4133	6062	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18029034C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3565C>A	22.37:g.18029034C>A						CECR2_ENST00000400585.2_Silent_p.R1189R|CECR2_ENST00000400573.4_Silent_p.R1331R	p.R1332R	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3994	+		all_epithelial(15;0.139)	1373					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.3994C>A																																																																																					0.622	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		3	57	1	0	1	1	1	3	57				
RFC5	5985	broad.mit.edu	37	12	118463581	118463581	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:118463581C>G	ENST00000454402.2	+	7	729	c.611C>G	c.(610-612)gCa>gGa	p.A204G	RFC5_ENST00000229043.3_Missense_Mutation_p.A119G|RFC5_ENST00000392542.2_Missense_Mutation_p.A183G	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	204					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAATGAAAGCACTAGTCACT	0.403																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(547-549)gCa>gGa		replication factor C (activator 1) 5, 36.5kDa							125.0	122.0	123.0					12																	118463581		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118463581C>G		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.611C>G	12.37:g.118463581C>G	ENSP00000408295:p.Ala204Gly					RFC5_ENST00000454402.2_Missense_Mutation_p.A204G|RFC5_ENST00000229043.3_Missense_Mutation_p.A119G	p.A183G	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			8	1081	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		204					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.548C>G	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618954	0.66787	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.47177	1.28;0.85;1.75	5.46	4.55	0.56014	.	0.051806	0.85682	D	0.000000	T	0.66406	0.2786	H	0.97732	4.065	0.80722	D	1	B;B;B	0.23540	0.049;0.087;0.087	B;B;B	0.28465	0.063;0.09;0.063	T	0.72204	-0.4361	10	0.87932	D	0	-24.7628	14.3726	0.66852	0.1494:0.8506:0.0:0.0	.	183;218;204	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	G	119;204;183	ENSP00000229043:A119G;ENSP00000408295:A204G;ENSP00000376325:A183G	ENSP00000229043:A119G	A	+	2	0	RFC5	116947964	1.000000	0.71417	0.939000	0.37840	0.940000	0.58332	4.834000	0.62774	1.272000	0.44329	0.650000	0.86243	GCA		0.403	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		32	35	0	0	0	1	0	32	35				
ONECUT1	3175	broad.mit.edu	37	15	53080999	53080999	+	Silent	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:53080999G>A	ENST00000305901.5	-	1	1210	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	361					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCGCGGACATGCGCTGGAACT	0.637																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1081-1083)cgC>cgT		one cut homeobox 1							34.0	37.0	36.0					15																	53080999		2194	4293	6487	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53080999G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1083C>T	15.37:g.53080999G>A						ONECUT1_ENST00000561401.2_Intron	p.R361R	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1210	-			361					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.1083C>T	CCDS10150.1																																																																																				0.637	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	18	0	0	0	1	0	27	18				
EMR2	30817	broad.mit.edu	37	19	14875289	14875289	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:14875289T>A	ENST00000315576.3	-	11	1491	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	347					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ATTGGAAAGGTTCTTGCTCAG	0.587																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1039-1041)aAc>aTc		egf-like module containing, mucin-like, hormone receptor-like 2							68.0	62.0	64.0					19																	14875289		2203	4299	6502	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875289T>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1040A>T	19.37:g.14875289T>A	ENSP00000319883:p.Asn347Ile					EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I	p.N347I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			11	1491	-			347					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1040A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755060	0.31046	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.78246	-0.9;-1.01;-0.43;0.37;1.09;-1.16;1.47;-1.08	3.54	-7.02	0.01589	.	.	.	.	.	T	0.60274	0.2256	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.28605	0.146;0.213;0.031;0.052;0.029;0.07;0.172;0.217	B;B;B;B;B;B;B;B	0.31946	0.024;0.108;0.021;0.069;0.015;0.065;0.096;0.138	T	0.55398	-0.8147	9	0.59425	D	0.04	.	7.4918	0.27466	0.0902:0.0:0.4041:0.5057	.	347;254;347;205;298;347;347;347	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	I	347;347;298;254;205;347;86;298	ENSP00000319883:N347I;ENSP00000376694:N347I;ENSP00000263380:N298I;ENSP00000319454:N254I;ENSP00000319838:N205I;ENSP00000376692:N347I;ENSP00000376691:N86I;ENSP00000376689:N298I	ENSP00000319883:N347I	N	-	2	0	EMR2	14736289	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.609000	0.05635	-1.278000	0.02408	-2.061000	0.00397	AAC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			13	12	0	0	0	1	0	13	12				
TUBB8P7	197331	broad.mit.edu	37	16	90161816	90161816	+	RNA	SNP	C	C	T	rs569846923		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:90161816C>T	ENST00000564451.1	+	0	1169				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGCCCTACAACGCCACCCTCT	0.488													.|||	1	0.000199681	0.0	0.0	5008	,	,		20864	0.001		0.0	False		,,,				2504	0.0					ENST00000564451.1																			0																																																			0							g.chr16:90161816C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161816C>T						TUBB8P7_ENST00000567960.1_RNA								0	1169	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.488	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	31	0	0	0	1	0	3	31				
PTPRU	10076	broad.mit.edu	37	1	29638247	29638247	+	Silent	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr1:29638247C>T	ENST00000345512.3	+	22	3207	c.3078C>T	c.(3076-3078)gtC>gtT	p.V1026V	PTPRU_ENST00000323874.8_Silent_p.V1022V|PTPRU_ENST00000373779.3_Silent_p.V1016V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.V1013V|PTPRU_ENST00000356870.3_Silent_p.V1022V|PTPRU_ENST00000460170.2_Silent_p.V1022V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1026	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGAGTATGTCGTGCGCACTT	0.602																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3046-3048)gtC>gtT		protein tyrosine phosphatase, receptor type, U							145.0	129.0	135.0					1																	29638247		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638247C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3078C>T	1.37:g.29638247C>T						PTPRU_ENST00000460170.2_Silent_p.V1022V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.V1026V|PTPRU_ENST00000356870.3_Silent_p.V1022V|PTPRU_ENST00000323874.8_Silent_p.V1022V|PTPRU_ENST00000428026.2_Silent_p.V1013V	p.V1016V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	21	3177	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1026			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.3048C>T	CCDS334.1																																																																																				0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			46	84	0	0	0	1	0	46	84				
FOXA1	3169	broad.mit.edu	37	14	38061208	38061208	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:38061208G>C	ENST00000250448.2	-	2	842	c.781C>G	c.(781-783)Cgc>Ggc	p.R261G	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.R228G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-783)Cgc>Ggc		forkhead box A1							15.0	16.0	15.0					14																	38061208		2202	4298	6500	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061208G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781C>G	14.37:g.38061208G>C	ENSP00000250448:p.Arg261Gly					FOXA1_ENST00000540786.1_Missense_Mutation_p.R228G|FOXA1_ENST00000545425.2_5'UTR	p.R261G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	842	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.781C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979223	0.74360	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.96041	-3.89;-3.89	3.92	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.064498	0.64402	D	0.000006	D	0.97986	0.9337	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97724	1.0198	10	0.66056	D	0.02	.	10.2805	0.43537	0.1014:0.0:0.8986:0.0	.	261	P55317	FOXA1_HUMAN	G	261;228	ENSP00000250448:R261G;ENSP00000440178:R228G	ENSP00000250448:R261G	R	-	1	0	FOXA1	37130959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.341000	0.72977	0.867000	0.35654	0.400000	0.26472	CGC		0.716	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	9	0	0	0	1	0	13	9				
ATF2	1386	broad.mit.edu	37	2	175962238	175962238	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:175962238C>A	ENST00000264110.2	-	11	1210	c.912G>T	c.(910-912)agG>agT	p.R304S	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000487334.2_3'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	304					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CTGACTGAGTCCTAACCAATC	0.453																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(910-912)agG>agT		activating transcription factor 2							160.0	136.0	144.0					2																	175962238		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175962238C>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.912G>T	2.37:g.175962238C>A	ENSP00000264110:p.Arg304Ser					ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000487334.2_3'UTR	p.R304S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		11	1210	-			304					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.912G>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	6.315	0.426141	0.11987	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.75938	-0.98;0.61;-0.48;0.61;-0.98;-0.98;-0.55	5.78	1.92	0.25849	.	0.251730	0.36893	N	0.002348	T	0.44582	0.1300	N	0.03608	-0.345	0.34123	D	0.664372	B;B;B;B	0.19817	0.039;0.033;0.001;0.002	B;B;B;B	0.15052	0.012;0.006;0.002;0.002	T	0.43310	-0.9399	10	0.08179	T	0.78	-8.7081	9.4587	0.38772	0.0:0.643:0.0:0.3569	.	286;281;246;304	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	304;246;281;188;246;304;286;286	ENSP00000264110:R304S;ENSP00000340576:R246S;ENSP00000386326:R188S;ENSP00000387093:R246S;ENSP00000376327:R304S;ENSP00000407911:R286S;ENSP00000437952:R286S	ENSP00000264110:R304S	R	-	3	2	ATF2	175670484	0.984000	0.35163	0.999000	0.59377	0.758000	0.43043	0.161000	0.16481	0.340000	0.23745	-0.145000	0.13849	AGG		0.453	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		44	52	1	0	2.77807e-22	1	3.09257e-22	44	52				
SQRDL	58472	broad.mit.edu	37	15	45968418	45968418	+	Silent	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:45968418C>T	ENST00000260324.7	+	6	1160	c.774C>T	c.(772-774)aaC>aaT	p.N258N	SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	258					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCACTGTTAACTACAAGAAAA	0.458																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(772-774)aaC>aaT		sulfide quinone reductase-like (yeast)							126.0	131.0	129.0					15																	45968418		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968418C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.774C>T	15.37:g.45968418C>T						SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	p.N258N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	1160	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	258					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.774C>T	CCDS10127.1																																																																																				0.458	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	65	0	0	0	1	0	49	65				
ITGA4	3676	broad.mit.edu	37	2	182339937	182339937	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:182339937C>A	ENST00000397033.2	+	4	908	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I|ITGA4_ENST00000478440.1_Intron	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	160					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGAAAATAAGCTCCCCACTGG	0.383																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(478-480)Ctc>Atc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						97.0	96.0	96.0					2																	182339937		1825	4086	5911	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339937C>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.478C>A	2.37:g.182339937C>A	ENSP00000380227:p.Leu160Ile					ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I	p.L160I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	908	+			160					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.478C>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832852	0.91036	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.42131	1.91;0.98;0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	D;D	0.83275	0.925;0.996	T	0.66320	-0.5953	10	0.56958	D	0.05	.	18.5676	0.91121	0.0:1.0:0.0:0.0	.	160;160	E7EP60;P13612	.;ITA4_HUMAN	I	160	ENSP00000340149:L160I;ENSP00000380227:L160I;ENSP00000233573:L160I	ENSP00000233573:L160I	L	+	1	0	ITGA4	182048182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.427000	0.52785	2.695000	0.91970	0.650000	0.86243	CTC		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			41	52	1	0	6.1244e-12	1	6.4525e-12	41	52				
SLC34A2	10568	broad.mit.edu	37	4	25673235	25673235	+	Missense_Mutation	SNP	G	G	A	rs371683311		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr4:25673235G>A	ENST00000382051.3	+	9	990	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	314					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCAGATTAACGTCACTGTTCC	0.522			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(940-942)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	407.0	331.0	357.0		937,937,940	3.5	0.8	4		357	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	313/690,313/690,314/691	25673235	1,13005	2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25673235G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.940G>A	4.37:g.25673235G>A	ENSP00000371483:p.Val314Ile					SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I	p.V314I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			9	990	+		Breast(46;0.0503)	314					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.940G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334544	0.11013	0.0	1.16E-4	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.24723	1.84;1.85;1.84	5.23	3.51	0.40186	.	0.187765	0.45606	N	0.000349	T	0.19287	0.0463	L	0.41573	1.285	0.45676	D	0.99859	B;B	0.17852	0.024;0.006	B;B	0.17722	0.019;0.005	T	0.04976	-1.0914	10	0.27785	T	0.31	-46.8995	8.6736	0.34165	0.2343:0.0:0.7657:0.0	.	313;314	O95436-2;O95436	.;NPT2B_HUMAN	I	313;314;313	ENSP00000425501:V313I;ENSP00000371483:V314I;ENSP00000423021:V313I	ENSP00000371483:V314I	V	+	1	0	SLC34A2	25282333	1.000000	0.71417	0.759000	0.31340	0.006000	0.05464	4.043000	0.57354	0.723000	0.32274	-0.254000	0.11334	GTC		0.522	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		79	94	0	0	0	1	0	79	94				
NLK	51701	broad.mit.edu	37	17	26488195	26488195	+	Silent	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:26488195C>T	ENST00000407008.3	+	4	1372	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATATGTTGTCACAGAATTGA	0.393																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(652-654)gtC>gtT		nemo-like kinase							94.0	87.0	90.0					17																	26488195		2203	4300	6503	SO:0001819	synonymous_variant	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26488195C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.654C>T	17.37:g.26488195C>T							p.V218V	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	1372	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		218			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.654C>T	CCDS11224.2																																																																																				0.393	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		10	34	0	0	0	1	0	10	34				
THBS3	7059	broad.mit.edu	37	1	155173034	155173034	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr1:155173034G>A	ENST00000368378.3	-	6	756	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R126W|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	246					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATATCATCCCGCAGCTCCACC	0.602																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(736-738)Cgg>Tgg		thrombospondin 3							86.0	80.0	82.0					1																	155173034		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155173034G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.736C>T	1.37:g.155173034G>A	ENSP00000357362:p.Arg246Trp					RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R126W|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000541990.1_5'UTR	p.R246W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	756	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		246					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.736C>T	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233917	0.79688	.	.	ENSG00000169231	ENST00000368378;ENST00000457183	T;T	0.50277	0.75;0.75	5.87	4.9	0.64082	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.987;0.989;0.978;0.989	T	0.58272	-0.7665	10	0.87932	D	0	-28.3225	11.6761	0.51430	0.0:0.0:0.7244:0.2756	.	126;246;246;246	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	246;126	ENSP00000357362:R246W;ENSP00000392207:R126W	ENSP00000357362:R246W	R	-	1	2	THBS3	153439658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.857000	0.39399	2.941000	0.99782	0.655000	0.94253	CGG		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		10	20	0	0	0	1	0	10	20				
SLC35F4	341880	broad.mit.edu	37	14	58030926	58030926	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:58030926T>A	ENST00000339762.6	-	8	1492	c.1493A>T	c.(1492-1494)gAt>gTt	p.D498V	SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V|SLC35F4_ENST00000556826.1_Missense_Mutation_p.D462V			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	498					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCAGTCACATCATCCACATG	0.498																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)gAt>gTt		solute carrier family 35, member F4							91.0	92.0	92.0					14																	58030926		2053	4209	6262	SO:0001583	missense	341880							g.chr14:58030926T>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1493A>T	14.37:g.58030926T>A	ENSP00000342518:p.Asp498Val					SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V	p.D462V	NM_001206920.1	NP_001193849.1					8	1621	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.1385A>T		.	.	.	.	.	.	.	.	.	.	T	11.85	1.760199	0.31137	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.52754	0.75;0.65;0.8	5.14	5.14	0.70334	.	0.102646	0.64402	D	0.000003	T	0.42359	0.1199	L	0.36672	1.1	0.80722	D	1	B	0.33413	0.411	B	0.35550	0.205	T	0.45789	-0.9237	10	0.72032	D	0.01	-8.2332	15.2417	0.73476	0.0:0.0:0.0:1.0	.	498	A4IF30	S35F4_HUMAN	V	462;498;339	ENSP00000452086:D462V;ENSP00000342518:D498V;ENSP00000451990:D339V	ENSP00000342518:D498V	D	-	2	0	SLC35F4	57100679	1.000000	0.71417	0.064000	0.19789	0.235000	0.25334	7.655000	0.83696	2.047000	0.60756	0.460000	0.39030	GAT		0.498	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		6	8	0	0	0	1	0	6	8				
ATM	472	broad.mit.edu	37	11	108218045	108218045	+	Missense_Mutation	SNP	A	A	G	rs587782451		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:108218045A>G	ENST00000452508.2	+	60	8813	c.8624A>G	c.(8623-8625)aAt>aGt	p.N2875S	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875S|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N2875T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATGTACAGAATATCTTGATA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Missense(1)	p.N2875T(1)	liver(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8623-8625)aAt>aGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							99.0	105.0	103.0					11																	108218045		2201	4295	6496	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218045A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8624A>G	11.37:g.108218045A>G	ENSP00000388058:p.Asn2875Ser	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.N2875S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9009	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2875			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8624A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663690	0.88251	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.6511	0.77095	1.0:0.0:0.0:0.0	.	2875	Q13315	ATM_HUMAN	S	2875	ENSP00000278616:N2875S;ENSP00000388058:N2875S	ENSP00000278616:N2875S	N	+	2	0	ATM	107723255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.090000	0.63153	0.454000	0.30748	AAT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		61	5	0	0	0	1	0	61	5				
UNC13D	201294	broad.mit.edu	37	17	73831510	73831510	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:73831510G>A	ENST00000207549.4	-	20	2207	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R610C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	610	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCACAGCGCGCTGCACCCGC	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1828-1830)Cgc>Tgc		unc-13 homolog D (C. elegans)							25.0	27.0	26.0					17																	73831510		2202	4298	6500	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831510G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1828C>T	17.37:g.73831510G>A	ENSP00000207549:p.Arg610Cys					UNC13D_ENST00000412096.2_Missense_Mutation_p.R610C	p.R610C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		20	2207	-			610			MHD1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1828C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601690	0.66445	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71934	-0.6;-0.61	4.74	4.74	0.60224	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.56960	0.79;0.81	T	0.82520	-0.0416	10	0.59425	D	0.04	-11.2404	13.0819	0.59119	0.0:0.0:0.7977:0.2023	.	610;610	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	610	ENSP00000207549:R610C;ENSP00000388093:R610C	ENSP00000207549:R610C	R	-	1	0	UNC13D	71343105	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.253000	0.43205	2.321000	0.78463	0.561000	0.74099	CGC		0.677	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		3	13	0	0	0	1	0	3	13				
GRM1	2911	broad.mit.edu	37	6	146625847	146625847	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr6:146625847G>C	ENST00000282753.1	+	3	1286	c.1051G>C	c.(1051-1053)Gat>Cat	p.D351H	GRM1_ENST00000507907.1_Missense_Mutation_p.D351H|GRM1_ENST00000355289.4_Missense_Mutation_p.D351H|GRM1_ENST00000361719.2_Missense_Mutation_p.D351H|GRM1_ENST00000392299.2_Missense_Mutation_p.D351H|GRM1_ENST00000492807.2_Missense_Mutation_p.D351H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	351					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGGTCATTTGATGATTATTT	0.507																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1051-1053)Gat>Cat		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						121.0	101.0	108.0					6																	146625847		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625847G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1051G>C	6.37:g.146625847G>C	ENSP00000282753:p.Asp351His					GRM1_ENST00000492807.2_Missense_Mutation_p.D351H|GRM1_ENST00000355289.4_Missense_Mutation_p.D351H|GRM1_ENST00000361719.2_Missense_Mutation_p.D351H|GRM1_ENST00000282753.1_Missense_Mutation_p.D351H|GRM1_ENST00000507907.1_Missense_Mutation_p.D351H	p.D351H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1521	+		Ovarian(120;0.0387)	351					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1051G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588206	0.86851	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.999	D;D;D	0.70716	0.97;0.947;0.959	D	0.90043	0.4143	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	351;351;351	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	H	351	ENSP00000354896:D351H;ENSP00000376119:D351H;ENSP00000424095:D351H;ENSP00000282753:D351H;ENSP00000347437:D351H;ENSP00000425599:D351H	ENSP00000282753:D351H	D	+	1	0	GRM1	146667540	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.984000	0.88150	2.880000	0.98712	0.650000	0.86243	GAT		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	12	0	0	0	1	0	11	12				
MYH4	4622	broad.mit.edu	37	17	10356590	10356590	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:10356590G>A	ENST00000255381.2	-	24	3100	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	997					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTCCTTGGTCAGCTTAGC	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2989-2991)aCc>aTc		myosin, heavy chain 4, skeletal muscle							220.0	201.0	207.0					17																	10356590		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356590G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2990C>T	17.37:g.10356590G>A	ENSP00000255381:p.Thr997Ile					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T997I	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3100	-			997						Missense_Mutation	SNP	ENST00000255381.2	37	c.2990C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056989	0.76074	.	.	ENSG00000141048	ENST00000255381	D	0.87729	-2.29	5.19	5.19	0.71726	.	0.000000	0.38492	U	0.001679	D	0.90741	0.7094	M	0.80847	2.515	0.80722	D	1	P	0.36354	0.549	B	0.43386	0.418	D	0.91686	0.5362	10	0.87932	D	0	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	997	Q9Y623	MYH4_HUMAN	I	997	ENSP00000255381:T997I	ENSP00000255381:T997I	T	-	2	0	MYH4	10297315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.681000	0.98653	2.571000	0.86741	0.591000	0.81541	ACC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	181	0	0	0	1	0	8	181				
SLC2A11	66035	broad.mit.edu	37	22	24225971	24225971	+	Missense_Mutation	SNP	G	G	A	rs79905160	byFrequency	TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr22:24225971G>A	ENST00000345044.6	+	9	1265	c.997G>A	c.(997-999)Gag>Aag	p.E333K	SLC2A11_ENST00000316185.8_Missense_Mutation_p.E336K|SLC2A11_ENST00000398356.2_Missense_Mutation_p.E340K|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	333					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGTGGTAATCGAGAGGGTGGG	0.617													G|||	11	0.00219649	0.0008	0.0014	5008	,	,		19261	0.0		0.004	False		,,,				2504	0.0051					ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(997-999)Gag>Aag		solute carrier family 2 (facilitated glucose transporter), member 11		G	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	349.0	216.0	261.0		997,1006,1018	4.2	0.5	22	dbSNP_131	261	44,8556	29.0+/-79.6	0,44,4256	yes	missense,missense,missense	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	56,56,56	0,46,6457	AA,AG,GG		0.5116,0.0454,0.3537	possibly-damaging,possibly-damaging,possibly-damaging	333/497,336/500,340/504	24225971	46,12960	2203	4300	6503	SO:0001583	missense	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24225971G>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.997G>A	22.37:g.24225971G>A	ENSP00000342542:p.Glu333Lys					SLC2A11_ENST00000398356.2_Missense_Mutation_p.E340K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E336K|AP000350.10_ENST00000433835.3_Intron	p.E333K			Q9BYW1	GTR11_HUMAN			9	1265	+			333					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	c.997G>A	CCDS46673.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	18.55	3.648381	0.67358	4.54E-4	0.005116	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	T;T;T	0.58506	0.33;0.33;0.33	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.180340	0.47852	D	0.000213	T	0.73361	0.3577	M	0.91920	3.255	0.46927	D	0.999258	D;D;D	0.76494	0.999;0.996;0.999	P;D;D	0.65684	0.896;0.909;0.937	T	0.83009	-0.0173	10	0.87932	D	0	.	14.8208	0.70070	0.0:0.0:1.0:0.0	.	336;333;340	Q9BYW1-3;Q9BYW1;E9PH55	.;GTR11_HUMAN;.	K	333;340;336	ENSP00000342542:E333K;ENSP00000381399:E340K;ENSP00000326748:E336K	ENSP00000326748:E336K	E	+	1	0	SLC2A11	22555971	1.000000	0.71417	0.535000	0.28026	0.004000	0.04260	8.046000	0.89438	2.267000	0.75376	0.603000	0.83216	GAG		0.617	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		24	37	0	0	0	1	0	24	37				
FAM27L	284123	broad.mit.edu	37	17	21825425	21825425	+	lincRNA	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:21825425G>A	ENST00000426869.3	+	0	129					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tcggggctccgaggctccggc	0.622																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like																																						284123							g.chr17:21825425G>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825425G>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	129	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.622	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		7	12	0	0	0	1	0	7	12				
FOXP2	93986	broad.mit.edu	37	7	114292293	114292293	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr7:114292293G>A	ENST00000393494.2	+	9	1409	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	FOXP2_ENST00000393500.3_Missense_Mutation_p.S302N|FOXP2_ENST00000350908.4_Missense_Mutation_p.S377N|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000393498.2_Missense_Mutation_p.S356N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S402N|FOXP2_ENST00000360232.4_Missense_Mutation_p.S377N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S285N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S285N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S401N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S394N			O15409	FOXP2_HUMAN	forkhead box P2	377					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATGACCGAAGCACTGCTCAG	0.418																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(904-906)aGc>aAc		forkhead box P2							168.0	146.0	153.0					7																	114292293		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114292293G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1130G>A	7.37:g.114292293G>A	ENSP00000377132:p.Ser377Asn					FOXP2_ENST00000360232.4_Missense_Mutation_p.S377N|FOXP2_ENST00000393494.2_Missense_Mutation_p.S377N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S402N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S285N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S394N|FOXP2_ENST00000393498.2_Missense_Mutation_p.S356N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S401N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S285N|FOXP2_ENST00000350908.4_Missense_Mutation_p.S377N	p.S302N			O15409	FOXP2_HUMAN			15	1725	+			377	DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439).				A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.905G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246462	0.95305	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.967;0.967;0.967;0.999;0.999;0.967;0.981	P;P;P;D;D;P;D	0.80764	0.827;0.827;0.827;0.994;0.994;0.827;0.943	T	0.54476	-0.8288	10	0.87932	D	0	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	376;394;285;377;401;377;402	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	302;377;402;394;377;354;285;377;401;285	ENSP00000377137:S302N;ENSP00000377132:S377N;ENSP00000386200:S402N;ENSP00000385069:S394N;ENSP00000265436:S377N;ENSP00000377129:S285N;ENSP00000353367:S377N;ENSP00000375084:S401N;ENSP00000377130:S285N	ENSP00000265436:S377N	S	+	2	0	FOXP2	114079529	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.858000	0.86971	2.730000	0.93505	0.563000	0.77884	AGC		0.418	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	52	0	0	0	1	0	5	52				
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	rs374220502		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0					ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(121-123)aCg>aTg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	MET/THR	1,4197		0,1,2098	48.0	54.0	52.0		122	-1.2	0.0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC		0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069708C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.122C>T	11.37:g.44069708C>T	ENSP00000368109:p.Thr41Met						p.T41M	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	178	+			41						Missense_Mutation	SNP	ENST00000378832.1	37	c.122C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG		0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		15	21	0	0	0	1	0	15	21				
ARRDC5	645432	broad.mit.edu	37	19	4902803	4902803	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:4902803G>A	ENST00000381781.2	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCTATCCTCGGGCAGCACTAA	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(76-78)cCc>cTc		arrestin domain containing 5							87.0	82.0	84.0					19																	4902803		1907	4126	6033	SO:0001583	missense	645432				signal transduction			g.chr19:4902803G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.77C>T	19.37:g.4902803G>A	ENSP00000371200:p.Pro26Leu						p.P26L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	76	-			26						Missense_Mutation	SNP	ENST00000381781.2	37	c.77C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164889	0.38217	.	.	ENSG00000205784	ENST00000381781	T	0.18657	2.2	5.23	4.19	0.49359	Immunoglobulin E-set (1);	0.358324	0.20944	N	0.082873	T	0.29028	0.0721	L	0.51422	1.61	0.48452	D	0.999659	P	0.41366	0.747	P	0.49853	0.624	T	0.02588	-1.1137	10	0.59425	D	0.04	-39.1451	9.7129	0.40256	0.0938:0.0:0.9062:0.0	.	26	A6NEK1	ARRD5_HUMAN	L	26	ENSP00000371200:P26L	ENSP00000371200:P26L	P	-	2	0	ARRDC5	4853803	1.000000	0.71417	0.813000	0.32504	0.011000	0.07611	4.859000	0.62954	1.430000	0.47334	0.650000	0.86243	CCC		0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	54	0	0	0	1	0	38	54				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	31	0	0	0	1	0	5	31				
MUC16	94025	broad.mit.edu	37	19	9064067	9064067	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:9064067G>C	ENST00000397910.4	-	3	23582	c.23379C>G	c.(23377-23379)gaC>gaG	p.D7793E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7795	Ser-rich.|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)				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						TTGGAGATGAGTCAGCTAGGA	0.502																																						ENST00000397910.4																			0				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.(23377-23379)gaC>gaG		mucin 16, cell surface associated							288.0	282.0	284.0					19																	9064067		2125	4231	6356	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064067G>C	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.23379C>G	19.37:g.9064067G>C	ENSP00000381008:p.Asp7793Glu						p.D7793E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23582	-			7795			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23379C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.961	0.178579	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.33	1.33	0.21861	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	.	.	.	P	0.44344	0.833	B	0.28916	0.096	T	0.18587	-1.0332	8	0.87932	D	0	.	6.0525	0.19792	0.0:0.0:1.0:0.0	.	7793	B5ME49	.	E	7793	ENSP00000381008:D7793E	ENSP00000381008:D7793E	D	-	3	2	MUC16	8925067	0.001000	0.12720	0.001000	0.08648	0.101000	0.19017	-0.377000	0.07456	1.025000	0.39708	0.195000	0.17529	GAC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	196	0	0	0	1	0	4	196				
FAT2	2196	broad.mit.edu	37	5	150885275	150885275	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:150885275G>A	ENST00000261800.5	-	23	12913	c.12901C>T	c.(12901-12903)Cgc>Tgc	p.R4301C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4301					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTGAGGCGCATACCCACC	0.667																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12901-12903)Cgc>Tgc		FAT atypical cadherin 2							33.0	37.0	36.0					5																	150885275		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885275G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12901C>T	5.37:g.150885275G>A	ENSP00000261800:p.Arg4301Cys						p.R4301C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12913	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4301					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12901C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569281|3.569281	0.65765|0.65765	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.78126	.|-1.15	4.81|4.81	2.85|2.85	0.33270|0.33270	.|.	.|0.000000	.|0.56097	.|D	.|0.000034	D|D	0.84492|0.84492	0.5484|0.5484	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.85481|0.85481	0.1179|0.1179	5|10	.|0.72032	.|D	.|0.01	.|.	12.8791|12.8791	0.58008|0.58008	0.0:0.0:0.7042:0.2958|0.0:0.0:0.7042:0.2958	.|.	.|4301;1406	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|C	1073|4301	.|ENSP00000261800:R4301C	.|ENSP00000261800:R4301C	A|R	-|-	2|1	0|0	FAT2|FAT2	150865468|150865468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	4.947000|4.947000	0.63583|0.63583	0.985000|0.985000	0.38656|0.38656	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.667	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	43	0	0	0	1	0	3	43				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	43	0	0	0	1	0	4	43				
ATP10A	57194	broad.mit.edu	37	15	25959331	25959331	+	Silent	SNP	T	T	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:25959331T>G	ENST00000356865.6	-	10	1945	c.1834A>C	c.(1834-1836)Agg>Cgg	p.R612R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTGTGAACCTCCGCAGGAAG	0.597																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1834-1836)Agg>Cgg		ATPase, class V, type 10A							46.0	51.0	49.0					15																	25959331		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959331T>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1834A>C	15.37:g.25959331T>G							p.R612R	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1945	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	612					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1834A>C	CCDS32178.1																																																																																				0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		20	24	0	0	0	1	0	20	24				
ZRANB1	54764	broad.mit.edu	37	10	126662251	126662251	+	Silent	SNP	A	A	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:126662251A>G	ENST00000359653.4	+	4	1565	c.1194A>G	c.(1192-1194)ttA>ttG	p.L398L		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	398	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGAAAAATTATTTGATGAGG	0.303																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1192-1194)ttA>ttG		zinc finger, RAN-binding domain containing 1							128.0	133.0	131.0					10																	126662251		2203	4298	6501	SO:0001819	synonymous_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662251A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1194A>G	10.37:g.126662251A>G							p.L398L	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1565	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	398			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1194A>G	CCDS7642.1																																																																																				0.303	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		4	207	0	0	0	1	0	4	207				
IGKV3-7	28915	broad.mit.edu	37	2	89277991	89277991	+	RNA	SNP	A	A	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:89277991A>T	ENST00000390247.2	-	0	440									immunoglobulin kappa variable 3-7 (non-functional)																		TGTGGGAGGTAAGTTATAATC	0.443																																						ENST00000390247.2																			0																				17.0	16.0	16.0					2																	89277991		1766	3969	5735			0							g.chr2:89277991A>T	X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89277991A>T														0	440	-									RNA	SNP	ENST00000390247.2	37																																																																																						0.443	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323360.1	NG_000834		12	14	0	0	0	1	0	12	14				
CLEC16A	23274	broad.mit.edu	37	16	11051757	11051757	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:11051757T>G	ENST00000409790.1	+	2	429	c.199T>G	c.(199-201)Tct>Gct	p.S67A	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAATGACAGCTCTGTATTTGA	0.403																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(199-201)Tct>Gct		C-type lectin domain family 16, member A							130.0	127.0	128.0					16																	11051757		1874	4116	5990	SO:0001583	missense	23274							g.chr16:11051757T>G	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.199T>G	16.37:g.11051757T>G	ENSP00000387122:p.Ser67Ala					CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	p.S67A	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			2	429	+			67						Missense_Mutation	SNP	ENST00000409790.1	37	c.199T>G	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.028800	0.54790	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50001	0.76	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.42744	1.35	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.79108	0.992;0.979	T	0.59794	-0.7387	10	0.46703	T	0.11	-11.5145	13.4335	0.61071	0.0:0.0:0.0:1.0	.	67;67	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	A	67	ENSP00000387122:S67A	ENSP00000386495:S67A	S	+	1	0	CLEC16A	10959258	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.009000	0.70745	1.822000	0.53115	0.528000	0.53228	TCT		0.403	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		4	83	0	0	0	1	0	4	83				
SASH3	54440	broad.mit.edu	37	X	128927070	128927070	+	Silent	SNP	C	C	A	rs142835579		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	303	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R303R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587																																						ENST00000356892.3																			1	Substitution - coding silent(1)	p.R303R(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(907-909)Cgg>Agg		SAM and SH3 domain containing 3		C		3,3832		0,3,1629,571	83.0	69.0	74.0		907	2.8	1.0	X	dbSNP_134	74	0,6728		0,0,2428,1872	no	coding-synonymous	SASH3	NM_018990.3		0,3,4057,2443	AA,AC,CC,C		0.0,0.0782,0.0284		303/381	128927070	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	54440							g.chrX:128927070C>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.907C>A	X.37:g.128927070C>A							p.R303R	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	1021	+			303			SAM.		A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	37	c.907C>A	CCDS14614.1																																																																																				0.587	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		21	0	1	0	7.45023e-12	1	7.71164e-12	21	0				
RHOT1	55288	broad.mit.edu	37	17	30529851	30529851	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:30529851A>G	ENST00000333942.6	+	15	1503	c.1264A>G	c.(1264-1266)Aat>Gat	p.N422D	RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D|RHOT1_ENST00000358365.3_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	422	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTTCAGATGTAATGTAATTGG	0.313																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1264-1266)Aat>Gat		ras homolog family member T1							104.0	113.0	110.0					17																	30529851		2203	4298	6501	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30529851A>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1264A>G	17.37:g.30529851A>G	ENSP00000334724:p.Asn422Asp					RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D	p.N422D	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			15	1491	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	422			Miro 2.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1264A>G	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368809	0.42003	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.21932	1.98;1.98;1.98	5.47	5.47	0.80525	Mitochondrial Rho-like (1);MIRO (1);	0.085246	0.85682	D	0.000000	T	0.24198	0.0586	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.31383	0.321;0.003;0.004;0.018	B;B;B;B	0.35550	0.205;0.008;0.005;0.012	T	0.02519	-1.1147	10	0.44086	T	0.13	-17.8578	15.5516	0.76158	1.0:0.0:0.0:0.0	.	422;422;422;422	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	D	422	ENSP00000351132:N422D;ENSP00000378184:N422D;ENSP00000334724:N422D	ENSP00000334724:N422D	N	+	1	0	RHOT1	27553964	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.180000	0.77674	2.078000	0.62432	0.477000	0.44152	AAT		0.313	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		20	24	0	0	0	1	0	20	24				
VPS11	55823	broad.mit.edu	37	11	118949846	118949846	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:118949846G>T	ENST00000300793.6	+	15	2313	c.2271G>T	c.(2269-2271)caG>caT	p.Q757H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	758					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAGTGGTGCAGACCCTGGCCC	0.552																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2269-2271)caG>caT		vacuolar protein sorting 11 homolog (S. cerevisiae)							44.0	48.0	46.0					11																	118949846		2116	4235	6351	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949846G>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2271G>T	11.37:g.118949846G>T	ENSP00000475301:p.Gln757His					VPS11_ENST00000527798.1_3'UTR	p.Q757H	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2313	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	758					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2271G>T																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		21	4	1	0	9.95505e-16	1	1.08768e-15	21	4				
ANKHD1	54882	broad.mit.edu	37	5	139907827	139907827	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:139907827C>A	ENST00000360839.2	+	29	5450	c.5296C>A	c.(5296-5298)Cct>Act	p.P1766T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1766T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1766						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATCCTGCTAAGGA	0.383																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5296-5298)Cct>Act		ankyrin repeat and KH domain containing 1							82.0	79.0	80.0					5																	139907827		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139907827C>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5296C>A	5.37:g.139907827C>A	ENSP00000354085:p.Pro1766Thr					ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T	p.P1766T	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5420	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5296C>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.298792|3.298792	0.60195|0.60195	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74038|0.74038	0.3664|0.3664	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.997;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.972;0.996;0.996;0.994;0.994|.	T|T	0.72928|0.72928	-0.4143|-0.4143	10|5	0.72032|.	D|.	0.01|.	.|.	18.3876|18.3876	0.90471|0.90471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;196;1766;1766;1766|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	T|Y	1766;1766;1766;422;201;288;149;1766|256;216	ENSP00000354085:P1766T;ENSP00000297183:P1766T;ENSP00000393204:P422T;ENSP00000390034:P288T;ENSP00000437687:P149T;ENSP00000432016:P1766T|.	ENSP00000432016:P1766T|.	P|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888011|139888011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.278000|7.278000	0.78587|0.78587	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		28	39	1	0	7.26314e-15	1	7.79137e-15	28	39				
HNRNPH3	3189	broad.mit.edu	37	10	70105526	70105526	+	IGR	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:70105526C>A	ENST00000265866.7	+	0	2339				RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000388768.2_Nonstop_Mutation_p.*642L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TCTGGAGTCTCAGGGCAAGTT	0.423																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1924-1926)tGa>tTa		RUN and FYVE domain containing 2							144.0	137.0	139.0					10																	70105526		1931	4148	6079	SO:0001628	intergenic_variant	55680					nucleus	metal ion binding	g.chr10:70105526C>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105526C>A						RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	p.*642L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			18	2251	-			0					A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Nonstop_Mutation	SNP	ENST00000265866.7	37	c.1925G>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568748	0.45798	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	.	.	.	5.48	-5.6	0.02497	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5987	0.76609	0.0:0.5898:0.0:0.4102	.	.	.	.	L	642;197	.	.	X	-	2	2	RUFY2	69775532	0.983000	0.35010	0.000000	0.03702	0.802000	0.45316	0.162000	0.16501	-0.903000	0.03881	-0.379000	0.06801	TGA		0.423	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			24	37	1	0	1.22574e-08	1	1.24687e-08	24	37				
CDH11	1009	broad.mit.edu	37	16	65038589	65038589	+	Missense_Mutation	SNP	C	C	T	rs556647809		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:65038589C>T	ENST00000268603.4	-	3	799	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.V62M|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCTCTATCACGAAGAACTGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(184-186)Gtg>Atg		cadherin 11, type 2, OB-cadherin (osteoblast)							62.0	48.0	53.0					16																	65038589		2202	4300	6502	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038589C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.184G>A	16.37:g.65038589C>T	ENSP00000268603:p.Val62Met	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.V62M	p.V62M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	637	-		Ovarian(137;0.0973)	62			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.184G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623522	0.87460	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00527	6.79;6.79	5.62	5.62	0.85841	Cadherin-like (1);	0.058930	0.64402	D	0.000002	T	0.02970	0.0088	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.918;1.0	T	0.23440	-1.0188	10	0.87932	D	0	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	62;62	P55287-2;P55287	.;CAD11_HUMAN	M	62	ENSP00000268603:V62M;ENSP00000377711:V62M	ENSP00000268603:V62M	V	-	1	0	CDH11	63596090	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.620000	0.61226	2.662000	0.90505	0.591000	0.81541	GTG		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	1	0	0	0	1	0	10	1				
STXBP5L	9515	broad.mit.edu	37	3	120976076	120976076	+	Silent	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:120976076G>A	ENST00000273666.6	+	17	1999	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	STXBP5L_ENST00000497029.1_Silent_p.P576P|STXBP5L_ENST00000492541.1_Silent_p.P576P|STXBP5L_ENST00000472879.1_Silent_p.P576P|STXBP5L_ENST00000471454.1_Silent_p.P576P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAAGTCCTCCGTTTCCAGATC	0.393																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1726-1728)ccG>ccA		syntaxin binding protein 5-like							121.0	118.0	119.0					3																	120976076		1846	4086	5932	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976076G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1728G>A	3.37:g.120976076G>A						STXBP5L_ENST00000472879.1_Silent_p.P576P|STXBP5L_ENST00000471454.1_Silent_p.P576P|STXBP5L_ENST00000492541.1_Silent_p.P576P|STXBP5L_ENST00000497029.1_Silent_p.P576P	p.P576P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	1999	+			576					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.1728G>A	CCDS43137.1																																																																																				0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	131	0	0	0	1	0	8	131				
CHMP4B	128866	broad.mit.edu	37	20	32441333	32441333	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr20:32441333G>C	ENST00000217402.2	+	5	807	c.642G>C	c.(640-642)atG>atC	p.M214I		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	214					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ACGACGACATGAAGGAATTGG	0.557																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(640-642)atG>atC		charged multivesicular body protein 4B							129.0	106.0	114.0					20																	32441333		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32441333G>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.642G>C	20.37:g.32441333G>C	ENSP00000217402:p.Met214Ile						p.M214I	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN			5	807	+			214					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.642G>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888651	0.33348	.	.	ENSG00000101421	ENST00000217402	T	0.51071	0.72	5.32	4.35	0.52113	.	0.038080	0.85682	D	0.000000	T	0.45617	0.1351	L	0.58583	1.82	0.80722	D	1	B	0.17465	0.022	B	0.17098	0.017	T	0.36866	-0.9730	10	0.30078	T	0.28	-18.8909	15.5069	0.75748	0.0:0.0:0.8603:0.1397	.	214	Q9H444	CHM4B_HUMAN	I	214	ENSP00000217402:M214I	ENSP00000217402:M214I	M	+	3	0	CHMP4B	31904994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.499000	0.81566	1.343000	0.45638	0.585000	0.79938	ATG		0.557	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			15	11	0	0	0	1	0	15	11				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	35	0	0	0	1	0	3	35				
DOCK10	55619	broad.mit.edu	37	2	225698898	225698898	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:225698898T>A	ENST00000258390.7	-	26	3000	c.2933A>T	c.(2932-2934)aAt>aTt	p.N978I	DOCK10_ENST00000409592.3_Missense_Mutation_p.N972I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	978					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTTGAGTCATTTGATTTCAA	0.403																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(2914-2916)aAt>aTt		dedicator of cytokinesis 10							122.0	122.0	122.0					2																	225698898		2025	4197	6222	SO:0001583	missense	55619						GTP binding	g.chr2:225698898T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2933A>T	2.37:g.225698898T>A	ENSP00000258390:p.Asn978Ile					DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I	p.N972I			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	26	3028	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	978					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2915A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098850	0.76870	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.65549	3.54;-0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	M	0.73319	2.225	0.46823	D	0.999211	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.79619	-0.1728	10	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	978;972	Q96BY6;B3FL70	DOC10_HUMAN;.	I	972;978	ENSP00000386694:N972I;ENSP00000258390:N978I	ENSP00000258390:N978I	N	-	2	0	DOCK10	225407142	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.277000	0.72608	2.371000	0.80710	0.533000	0.62120	AAT		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			33	35	0	0	0	1	0	33	35				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	32	0	0	0	1	0	3	32				
ATP1A3	478	broad.mit.edu	37	19	42473001	42473001	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:42473001C>T	ENST00000302102.5	-	20	2905	c.2755G>A	c.(2755-2757)Gtc>Atc	p.V919I	ATP1A3_ENST00000545399.1_Missense_Mutation_p.V932I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V889I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V930I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	919			Missing (in AHC2). {ECO:0000269|PubMed:22842232}.	V -> A (in Ref. 6; AAA52286). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCACTGGACGACAACGATG	0.607																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(2794-2796)Gtc>Atc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							136.0	99.0	112.0					19																	42473001		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42473001C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2755G>A	19.37:g.42473001C>T	ENSP00000302397:p.Val919Ile					ATP1A3_ENST00000543770.1_Missense_Mutation_p.V930I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V919I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V889I	p.V932I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			20	2947	-			919					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2794G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652271	0.67472	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	3.27	3.27	0.37495	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.148537	0.43110	D	0.000610	D	0.96876	0.8980	M	0.89904	3.07	0.80722	D	1	P;B;P;P	0.52577	0.781;0.417;0.954;0.472	B;B;P;B	0.53006	0.352;0.27;0.715;0.39	D	0.97105	0.9800	10	0.62326	D	0.03	.	12.3948	0.55378	0.0:1.0:0.0:0.0	.	932;930;919;919	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	919;919;932;889;663;930	ENSP00000302397:V919I;ENSP00000411503:V919I;ENSP00000444688:V932I;ENSP00000437577:V930I	ENSP00000302397:V919I	V	-	1	0	ATP1A3	47164841	1.000000	0.71417	0.993000	0.49108	0.440000	0.31957	5.930000	0.70104	1.854000	0.53819	0.462000	0.41574	GTC		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		28	19	0	0	0	1	0	28	19				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	45	0	0	0	1	0	4	45				
DDX54	79039	broad.mit.edu	37	12	113612881	113612881	+	Silent	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:113612881G>A	ENST00000306014.5	-	8	861	c.834C>T	c.(832-834)tcC>tcT	p.S278S	DDX54_ENST00000314045.7_Silent_p.S278S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	278	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCGTGGCGGAGAACAGCA	0.667											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(832-834)tcC>tcT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							32.0	39.0	36.0					12																	113612881		2202	4300	6502	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113612881G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.834C>T	12.37:g.113612881G>A			OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	DDX54_ENST00000306014.5_Silent_p.S278S	p.S278S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			8	861	-			278			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.834C>T	CCDS31907.1																																																																																				0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		20	26	0	0	0	1	0	20	26				
BMS1	9790	broad.mit.edu	37	10	43279996	43279996	+	Missense_Mutation	SNP	C	C	T	rs189363794		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:43279996C>T	ENST00000374518.5	+	2	217	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	52					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCTGCTGTGCGGATGGCTCG	0.463																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(154-156)Cgg>Tgg		BMS1 ribosome biogenesis factor		C	TRP/ARG	0,4406		0,0,2203	94.0	103.0	100.0		154	3.4	1.0	10		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMS1	NM_014753.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	52/1283	43279996	1,13005	2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43279996C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.154C>T	10.37:g.43279996C>T	ENSP00000363642:p.Arg52Trp						p.R52W	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			2	217	+			52					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.154C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	16.70	3.197279	0.58126	0.0	1.16E-4	ENSG00000165733	ENST00000374518	T	0.10382	2.88	4.33	3.41	0.39046	.	0.053084	0.85682	D	0.000000	T	0.13329	0.0323	M	0.73430	2.235	0.58432	D	0.999999	P	0.41393	0.748	B	0.32342	0.144	T	0.06534	-1.0821	10	0.87932	D	0	.	13.441	0.61112	0.1583:0.8417:0.0:0.0	.	52	Q14692	BMS1_HUMAN	W	52	ENSP00000363642:R52W	ENSP00000363642:R52W	R	+	1	2	BMS1	42600002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.692000	0.68256	0.807000	0.34208	-0.458000	0.05436	CGG		0.463	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		26	32	0	0	0	1	0	26	32				
RBP1	5947	broad.mit.edu	37	3	139258317	139258318	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:139258317_139258318delAC	ENST00000483943.2	-	1	243_244	c.243_244delGT	c.(241-246)gagtacfs	p.Y82fs	RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	20					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GCGCGCAGGTACTCCTCGAAAT	0.673																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(241-246)gaacfs		retinol binding protein 1, cellular	Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258317_139258318delAC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.243_244delGT	3.37:g.139258317_139258318delAC	ENSP00000424813:p.Tyr82fs					RBP1_ENST00000492918.1_Frame_Shift_Del_p.EY81fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Frame_Shift_Del_p.EY81fs	p.EY81fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			1	243_244	-			19					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Frame_Shift_Del	DEL	ENST00000483943.2	37	c.243_244delGT	CCDS46925.1																																																																																				0.673	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		11	2						11	2	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		8	90						8	90	---	---	---	---
ANK3	288	broad.mit.edu	37	10	62038573	62038574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:62038573_62038574insT	ENST00000280772.2	-	4	563_564	c.372_373insA	c.(370-375)aaagtcfs	p.V125fs	ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs|ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	125					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAACCAAGACTTTTACCACCT	0.396																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(370-375)aatcttfs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62038573_62038574insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.373dupA	10.37:g.62038577_62038577dupT	ENSP00000280772:p.Val125fs					ANK3_ENST00000503366.1_Frame_Shift_Ins_p.NL107fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.NL118fs	p.NL124fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			4	563_564	-			124					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.372_373insA	CCDS7258.1																																																																																				0.396	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		86	79						86	79	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49231321	49231321	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:49231321delG	ENST00000308025.3	-	7	818	c.739delC	c.(739-741)ctgfs	p.L247fs	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	247					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATGGCATGCAGTTCCTTGCTC	0.502																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(739-741)tgfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							287.0	225.0	246.0					12																	49231321		2203	4300	6503	SO:0001589	frameshift_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49231321delG	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.739delC	12.37:g.49231321delG	ENSP00000310723:p.Leu247fs					DDX23_ENST00000553182.1_Intron	p.L247fs	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			7	818	-			247					B2R600|B4DH15|O43188	Frame_Shift_Del	DEL	ENST00000308025.3	37	c.739delC	CCDS8770.1																																																																																				0.502	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		70	64						70	64	---	---	---	---
TRAV26-2	28656	broad.mit.edu	37	14	22670555	22670567	+	RNA	DEL	TAATGACAAAAGA	TAATGACAAAAGA	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:22670555_22670567delTAATGACAAAAGA	ENST00000390460.1	+	0	40									T cell receptor alpha variable 26-2																		GTTTTGTGGCTAATGACAAAAGAGAGTTATCTG	0.404																																						ENST00000390460.1																			0																																																			0							g.chr14:22670555_22670567delTAATGACAAAAGA	AE000660		14q11.2	2012-02-07			ENSG00000211812	ENSG00000211812		"""T cell receptors / TRA locus"""	12124	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV262, TCRAV4S1, TCRAV26S2			OTTHUMG00000170663		14.37:g.22670555_22670567delTAATGACAAAAGA														0	40	+									RNA	DEL	ENST00000390460.1	37																																																																																						0.404	TRAV26-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409911.1	NG_001332		8	5						8	5	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	9						4	9	---	---	---	---
