#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
ITGA7	3679	broad.mit.edu	37	12	56088657	56088657	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:56088657G>A	ENST00000555728.1	-	16	2261	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000257880.7_Missense_Mutation_p.P745S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S			Q13683	ITA7_HUMAN	integrin, alpha 7	745					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCAGCCTGGGGCTGGGCTGGG	0.622																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2233-2235)Ccc>Tcc		integrin, alpha 7							61.0	58.0	59.0					12																	56088657		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088657G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2233C>T	12.37:g.56088657G>A	ENSP00000452387:p.Pro745Ser					ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P745S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S	p.P745S			Q13683	ITA7_HUMAN			16	2452	-			745					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2233C>T		.	.	.	.	.	.	.	.	.	.	G	19.86	3.906046	0.72868	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.34;-0.28;0.1;-0.34;-0.34;-0.33;-0.35	4.8	4.8	0.61643	Integrin alpha-2 (1);	0.000000	0.64402	D	0.000001	T	0.78033	0.4220	M	0.66939	2.045	0.48288	D	0.999627	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.75020	0.975;0.985;0.975;0.981	T	0.79130	-0.1930	10	0.56958	D	0.05	.	11.6083	0.51045	0.0:0.1804:0.8196:0.0	.	608;745;705;764	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	705;701;695;608;745;705;701;745	ENSP00000452120:P705S;ENSP00000257879:P701S;ENSP00000343009:P695S;ENSP00000393844:P608S;ENSP00000257880:P745S;ENSP00000377777:P705S;ENSP00000377776:P701S;ENSP00000452387:P745S	ENSP00000257879:P701S	P	-	1	0	ITGA7	54374924	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.666000	0.61554	2.378000	0.81104	0.555000	0.69702	CCC		0.622	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		12	47	0	0	0	1	0	12	47				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			9	56	0	0	0	1	0	9	56				
KMT2C	58508	broad.mit.edu	37	7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2																			0											c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32.0	33.0	33.0					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F							16	2881	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	100	0	0	0	1	0	7	100				
ERBB2IP	55914	broad.mit.edu	37	5	65321737	65321737	+	Missense_Mutation	SNP	A	A	G	rs373419259		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:65321737A>G	ENST00000284037.5	+	12	1341	c.952A>G	c.(952-954)Att>Gtt	p.I318V	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	318					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GCCTTCATCTATTGGGCAGCT	0.299																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(952-954)Att>Gtt		erbb2 interacting protein		A	VAL/ILE,VAL/ILE	0,4404		0,0,2202	55.0	54.0	54.0		952,952	2.0	1.0	5		54	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ERBB2IP	NM_001006600.1,NM_018695.2	29,29	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	318/1303,318/1372	65321737	1,12997	2202	4297	6499	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65321737A>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.952A>G	5.37:g.65321737A>G	ENSP00000284037:p.Ile318Val					ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V	p.I318V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	12	1341	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	318					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.952A>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085655	0.36758	0.0	1.16E-4	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.91;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.66	2.02	0.26589	.	0.139667	0.64402	N	0.000005	T	0.14657	0.0354	N	0.25144	0.715	0.50467	D	0.999876	B;B;B;B;B;B;B;B	0.31009	0.303;0.001;0.001;0.002;0.0;0.001;0.002;0.0	B;B;B;B;B;B;B;B	0.28011	0.085;0.007;0.008;0.009;0.001;0.002;0.03;0.001	T	0.07558	-1.0766	10	0.45353	T	0.12	.	7.7152	0.28700	0.6522:0.0:0.3478:0.0	.	318;318;318;318;318;318;318;318	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	V	318	ENSP00000284037:I318V;ENSP00000370330:I318V;ENSP00000397833:I318V;ENSP00000370326:I318V;ENSP00000370323:I318V;ENSP00000370322:I318V;ENSP00000370325:I318V;ENSP00000422766:I318V;ENSP00000426632:I318V;ENSP00000422015:I318V	ENSP00000284037:I318V	I	+	1	0	ERBB2IP	65357493	0.722000	0.28017	1.000000	0.80357	0.989000	0.77384	0.070000	0.14573	0.507000	0.28148	-0.256000	0.11100	ATT		0.299	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		5	37	0	0	0	1	0	5	37				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	62	0	0	0	1	0	6	62				
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294																																						ENST00000532352.1																			3	Substitution - coding silent(3)	p.P160P(3)	lung(2)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							43.0	43.0	43.0					11																	89413808		2201	4293	6494			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89413808A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89413808A>G										Q9HBA9	FOH1B_HUMAN			0	1293	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.294	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	41	0	0	0	1	0	4	41				
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C	rs199755248		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66.0	66.0	66.0					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		5	96	0	0	0	1	0	5	96				
PKLR	5313	broad.mit.edu	37	1	155261654	155261654	+	Missense_Mutation	SNP	C	C	T	rs185753709		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:155261654C>T	ENST00000342741.4	-	10	1549	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	PKLR_ENST00000392414.3_Missense_Mutation_p.R473H	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	504			R -> L (in PKRD; instability of the protein; dbSNP:rs185753709).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGGACCTGGCGGGCAGCCTG	0.602																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM981580	PKLR	M	rs185753709	c.(1417-1419)cGc>cAc		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						73.0	72.0	72.0					1																	155261654		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261654C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1511G>A	1.37:g.155261654C>T	ENSP00000339933:p.Arg504His					PKLR_ENST00000342741.4_Missense_Mutation_p.R504H	p.R473H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1531	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		504					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1418G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252917	0.95336	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99382	-5.8;-5.8	4.85	4.85	0.62838	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.83118	2.625	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.55391	0.775;0.775	D	0.99063	1.0831	10	0.62326	D	0.03	-19.2191	15.8598	0.79012	0.0:1.0:0.0:0.0	.	504;495	P30613;B1AVT1	KPYR_HUMAN;.	H	529;473;504;418	ENSP00000376214:R473H;ENSP00000339933:R504H	ENSP00000271946:R418H	R	-	2	0	PKLR	153528278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.754000	0.68743	2.677000	0.91161	0.563000	0.77884	CGC		0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		21	100	0	0	0	1	0	21	100				
AIRE	326	broad.mit.edu	37	21	45710772	45710772	+	Intron	SNP	C	C	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr21:45710772C>T	ENST00000291582.5	+	8	1006				AIRE_ENST00000355347.4_Missense_Mutation_p.P28L|AIRE_ENST00000329347.4_Missense_Mutation_p.P28L	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGATGGCCCCGGGGGGTGTC	0.602									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000355347.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(82-84)cCg>cTg		autoimmune regulator							58.0	69.0	65.0					21																	45710772		2203	4299	6502	SO:0001627	intron_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710772C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.880-206C>T	21.37:g.45710772C>T						AIRE_ENST00000329347.4_Missense_Mutation_p.P28L|AIRE_ENST00000291582.5_Intron	p.P28L			O43918	AIRE_HUMAN		Colorectal(79;0.0806)	1	83	+			360		L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization).	HSR.		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.83C>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113965	0.37339	.	.	ENSG00000160224	ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D	0.96334	-3.92;-3.98	2.16	-4.32	0.03688	.	.	.	.	.	D	0.86920	0.6049	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.74494	-0.3647	9	0.87932	D	0	.	1.0961	0.01673	0.1485:0.2239:0.3521:0.2755	.	28	B2RP50	.	L	28	ENSP00000347505:P28L;ENSP00000331055:P28L	ENSP00000331055:P28L	P	+	2	0	AIRE	44535200	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.811000	0.04500	-1.457000	0.01919	-0.481000	0.04817	CCG		0.602	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			12	136	0	0	0	1	0	12	136				
RPLP0P2	113157	broad.mit.edu	37	11	61404336	61404336	+	RNA	SNP	G	G	A	rs17626916	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:61404336G>A	ENST00000496593.1	+	0	940					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GCCATGACGCGCAAGGCCATC	0.587													G|||	697	0.139177	0.0439	0.2017	5008	,	,		21300	0.0208		0.2913	False		,,,				2504	0.1892					ENST00000496593.1																			0																																																			0							g.chr11:61404336G>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404336G>A								NR_002775.2						0	940	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.587	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		4	44	0	0	0	1	0	4	44				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						ENST00000221347.6																			2	Substitution - coding silent(2)	p.A4373A(2)	lung(1)|kidney(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13117-13119)gcA>gcC		Fc fragment of IgG binding protein							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13126	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	23	0	0	0	1	0	7	23				
BPIFB3	359710	broad.mit.edu	37	20	31649627	31649627	+	Missense_Mutation	SNP	T	T	A	rs147720727	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr20:31649627T>A	ENST00000375494.3	+	5	581	c.581T>A	c.(580-582)cTt>cAt	p.L194H		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	194	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTCAAGGTGCTTCCGGGACTG	0.627													T|||	2	0.000399361	0.0	0.0014	5008	,	,		18167	0.0		0.001	False		,,,				2504	0.0					ENST00000375494.3																			0											c.(580-582)cTt>cAt		BPI fold containing family B, member 3		T	HIS/LEU	1,4405	2.1+/-5.4	0,1,2202	131.0	105.0	114.0		581	4.7	1.0	20	dbSNP_134	114	20,8580	14.6+/-50.1	0,20,4280	yes	missense	BPIFB3	NM_182658.1	99	0,21,6482	AA,AT,TT		0.2326,0.0227,0.1615	possibly-damaging	194/477	31649627	21,12985	2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31649627T>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.581T>A	20.37:g.31649627T>A	ENSP00000364643:p.Leu194His						p.L194H	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			5	581	+			194			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.581T>A	CCDS13212.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	19.28	3.796585	0.70567	2.27E-4	0.002326	ENSG00000186190	ENST00000375494	T	0.14893	2.47	4.69	4.69	0.59074	.	0.000000	0.43260	D	0.000598	T	0.33177	0.0854	M	0.63843	1.955	0.39242	D	0.963883	D	0.58620	0.983	P	0.60886	0.88	T	0.15896	-1.0421	10	0.87932	D	0	-10.292	10.4635	0.44594	0.0:0.0:0.0:1.0	.	194	P59826	BPIB3_HUMAN	H	194	ENSP00000364643:L194H	ENSP00000364643:L194H	L	+	2	0	BPIFB3	31113288	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.403000	0.52615	1.971000	0.57363	0.533000	0.62120	CTT		0.627	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		4	53	0	0	0	1	0	4	53				
SPATA31D5P	347127	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTTCTGATATTGACCATGAC	0.458																																						ENST00000527857.1																			0																																																			0							g.chr9:84533044T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533044T>C								NR_026851.1						0	3066	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.458	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	60	0	0	0	1	0	4	60				
GJA8	2703	broad.mit.edu	37	1	147380805	147380805	+	Silent	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:147380805G>A	ENST00000369235.1	+	1	723	c.723G>A	c.(721-723)gaG>gaA	p.E241E	GJA8_ENST00000240986.4_Silent_p.E241E			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	241					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGCCTGTAGAGCAGCCCCTGG	0.552																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(721-723)gaG>gaA		gap junction protein, alpha 8, 50kDa							61.0	59.0	60.0					1																	147380805		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380805G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.723G>A	1.37:g.147380805G>A						GJA8_ENST00000369235.1_Silent_p.E241E	p.E241E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	776	+	all_hematologic(923;0.0276)		241					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.723G>A	CCDS30834.1																																																																																				0.552	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	85	0	0	0	1	0	5	85				
MROH2B	133558	broad.mit.edu	37	5	41018510	41018510	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:41018510G>A	ENST00000399564.4	-	27	3146	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	899																	CTCTTTTTGTGAAACAAGCCA	0.353																																						ENST00000399564.4																			0											c.(2695-2697)tCa>tTa		maestro heat-like repeat family member 2B							75.0	70.0	71.0					5																	41018510		1848	4092	5940	SO:0001583	missense	133558							g.chr5:41018510G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2696C>T	5.37:g.41018510G>A	ENSP00000382476:p.Ser899Leu					MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L	p.S899L	NM_173489.4	NP_775760.3					27	3146	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2696C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746746	0.89663	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69561	-0.41;-0.41	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.47852	D	0.000205	T	0.81706	0.4879	M	0.74647	2.275	0.38742	D	0.953911	D	0.89917	1.0	D	0.83275	0.996	D	0.84190	0.0444	10	0.87932	D	0	.	15.9221	0.79583	0.0:0.0:1.0:0.0	.	899	Q7Z745	HTRB2_HUMAN	L	454;604;899	ENSP00000441504:S454L;ENSP00000382476:S899L	ENSP00000296803:S604L	S	-	2	0	HEATR7B2	41054267	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.489000	0.60309	2.832000	0.97577	0.655000	0.94253	TCA		0.353	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	20	0	0	0	1	0	4	20				
TCN2	6948	broad.mit.edu	37	22	31011296	31011296	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr22:31011296G>T	ENST00000215838.3	+	5	1083	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S			P20062	TCO2_HUMAN	transcobalamin II	197					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACACAGCAGCCATGGCAGG	0.567																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(589-591)Gcc>Tcc		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						67.0	62.0	64.0					22																	31011296		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011296G>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.589G>T	22.37:g.31011296G>T	ENSP00000215838:p.Ala197Ser					TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S	p.A197S			P20062	TCO2_HUMAN			5	1083	+			197					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.589G>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910946	0.72983	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.62941	-0.01;-0.01;-0.01	5.82	5.82	0.92795	.	0.047328	0.85682	D	0.000000	T	0.81123	0.4757	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.999	T	0.82246	-0.0552	10	0.56958	D	0.05	-28.6925	17.0097	0.86403	0.0:0.0:1.0:0.0	.	170;193;197	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	S	197;193;170	ENSP00000215838:A197S;ENSP00000385914:A193S;ENSP00000384914:A170S	ENSP00000215838:A197S	A	+	1	0	TCN2	29341296	1.000000	0.71417	0.963000	0.40424	0.382000	0.30200	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	GCC		0.567	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		7	92	1	0	0.00448238	1	0.0047103	7	92				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	84	0	0	0	1	0	15	84				
ALDOA	226	broad.mit.edu	37	16	30081367	30081367	+	Intron	SNP	G	G	T	rs2071390	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr16:30081367G>T	ENST00000566897.1	+	11	2151				ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569798.1_Missense_Mutation_p.R339M|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000569545.1_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATAGGCAGGAGGTGGGCAGGG	0.617													G|||	962	0.192093	0.0136	0.2205	5008	,	,		17718	0.4603		0.1561	False		,,,				2504	0.1738					ENST00000569798.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(1015-1017)aGg>aTg		aldolase A, fructose-bisphosphate		G	,,,	209,4183		5,199,1992	30.0	28.0	29.0		,,,	-5.4	0.0	16	dbSNP_96	29	1339,7257		104,1131,3063	no	intron,intron,intron,intron	ALDOA	NM_000034.3,NM_001127617.2,NM_184041.2,NM_184043.2	,,,	109,1330,5055	TT,TG,GG		15.577,4.7587,11.9187	,,,	,,,	30081367	1548,11440	2196	4298	6494	SO:0001627	intron_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30081367G>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.999+17G>T	16.37:g.30081367G>T						ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000338110.5_Intron	p.R339M			P04075	ALDOA_HUMAN			8	1193	+			0		C -> Y (in GSD12).			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.1016G>T	CCDS10668.1																																																																																				0.617	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		5	63	1	0	0.000602214	1	0.000643746	5	63				
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:79687107A>C	ENST00000350690.5	+	11	950	c.864A>C	c.(862-864)tgA>tgC	p.*288C	SLC25A10_ENST00000541223.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000571730.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000545862.1_Nonstop_Mutation_p.*245C|SLC25A10_ENST00000331531.5_Nonstop_Mutation_p.*297C	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|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)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607																																						ENST00000331531.5																			1	Nonstop extension(1)	p.*288C(1)	lung(1)	endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(889-891)tgA>tgC		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						39.0	38.0	38.0					17																	79687107		2202	4300	6502	SO:0001578	stop_lost	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79687107A>C		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.864A>C	17.37:g.79687107A>C	ENSP00000345580:p.*288Cysext*14					SLC25A10_ENST00000350690.5_Nonstop_Mutation_p.*288C|SLC25A10_ENST00000571730.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000545862.1_Nonstop_Mutation_p.*245C|SLC25A10_ENST00000541223.1_Nonstop_Mutation_p.*443C	p.*297C	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		11	1011	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q542Z3|Q96BA1|Q96IP1	Nonstop_Mutation	SNP	ENST00000350690.5	37	c.891A>C	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235774	0.58886	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	.	.	.	4.35	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9301	0.41517	0.9158:0.0:0.0842:0.0	.	.	.	.	C	443;297;288;245	.	.	X	+	3	0	SLC25A10	77297512	1.000000	0.71417	0.903000	0.35520	0.516000	0.34256	4.848000	0.62874	1.600000	0.50102	0.528000	0.53228	TGA		0.607	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			10	60	0	0	0	1	0	10	60				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	28	1	0	0.00909568	1	0.00939887	4	28				
CHPF2	54480	broad.mit.edu	37	7	150933593	150933593	+	Missense_Mutation	SNP	G	G	A	rs143478285	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:150933593G>A	ENST00000035307.2	+	3	2441	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCCTGTCTCCGAAGGTACCCT	0.562													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20524	0.0		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(928-930)Gaa>Aaa		chondroitin polymerizing factor 2		G	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	59.0	50.0	53.0		928	5.6	1.0	7	dbSNP_134	53	18,8582	12.6+/-44.7	0,18,4282	yes	missense	CHPF2	NM_019015.1	56	0,21,6482	AA,AG,GG		0.2093,0.0681,0.1615	possibly-damaging	310/773	150933593	21,12985	2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150933593G>A	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.928G>A	7.37:g.150933593G>A	ENSP00000035307:p.Glu310Lys					CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K	p.E310K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			3	2441	+			310					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.928G>A	CCDS34779.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	35	5.464152	0.96257	6.81E-4	0.002093	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.14516	2.5;2.5	5.57	5.57	0.84162	.	0.243176	0.47852	D	0.000207	T	0.19805	0.0476	L	0.47716	1.5	0.58432	D	0.999998	P;P	0.51933	0.949;0.468	P;B	0.47573	0.55;0.089	T	0.00314	-1.1824	10	0.39692	T	0.17	-17.7744	16.6968	0.85338	0.0:0.0:1.0:0.0	.	310;302	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	K	302;310;310	ENSP00000418914:E302K;ENSP00000035307:E310K	ENSP00000035307:E310K	E	+	1	0	CHPF2	150564526	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.496000	0.97967	2.627000	0.88993	0.650000	0.86243	GAA		0.562	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		4	47	0	0	0	1	0	4	47				
CENPT	80152	broad.mit.edu	37	16	67865073	67865073	+	Intron	SNP	G	G	A	rs8052287	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr16:67865073G>A	ENST00000562787.1	-	10	1252				CENPT_ENST00000440851.2_Intron|CENPT_ENST00000445712.2_Missense_Mutation_p.P147L|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Intron	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGTCATAGCGGGGAGAGCTT	0.562													G|||	375	0.0748802	0.2035	0.062	5008	,	,		19343	0.0		0.0427	False		,,,				2504	0.0204					ENST00000445712.2																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(439-441)cCg>cTg		centromere protein T		G		554,3454		39,476,1489	84.0	91.0	89.0			-6.0	0.0	16	dbSNP_116	89	388,7956		10,368,3794	no	intron	CENPT	NM_025082.3		49,844,5283	AA,AG,GG		4.65,13.8224,7.6263			67865073	942,11410	2004	4172	6176	SO:0001627	intron_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865073G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.703+45C>T	16.37:g.67865073G>A						CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron	p.P147L			Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	6	686	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	0					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.440C>T	CCDS42182.1	173	0.07921245421245421	115	0.23373983739837398	26	0.0718232044198895	0	0.0	32	0.04221635883905013	G	10.05	1.243484	0.22796	0.138224	0.0465	ENSG00000102901	ENST00000445712	T	0.49139	0.79	3.66	-6.0	0.02206	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	7	0.87932	D	0	.	6.9294	0.24434	0.2877:0.0:0.5615:0.1509	rs8052287;rs8052287	147	B4DMP9	.	L	147	ENSP00000411594:P147L	ENSP00000411594:P147L	P	-	2	0	CENPT	66422574	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.192000	0.02691	-0.357000	0.07601	CCG		0.562	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		8	182	0	0	0	1	0	8	182				
GXYLT2	727936	broad.mit.edu	37	3	72957598	72957598	+	Missense_Mutation	SNP	A	A	G	rs191393310	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr3:72957598A>G	ENST00000389617.4	+	2	517	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	119					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GCCTGTGGCAATCGGCTGGAG	0.547													A|||	6	0.00119808	0.0	0.0014	5008	,	,		16232	0.0		0.003	False		,,,				2504	0.002					ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(355-357)aAt>aGt		glucoside xylosyltransferase 2		A	SER/ASN	2,3946		0,2,1972	44.0	48.0	47.0		356	4.3	1.0	3		47	31,8299		0,31,4134	yes	missense	GXYLT2	NM_001080393.1	46	0,33,6106	GG,GA,AA		0.3721,0.0507,0.2688	benign	119/444	72957598	33,12245	1974	4165	6139	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:72957598A>G	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.356A>G	3.37:g.72957598A>G	ENSP00000374268:p.Asn119Ser						p.N119S	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			2	517	+			119						Missense_Mutation	SNP	ENST00000389617.4	37	c.356A>G	CCDS46870.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	7.820	0.717513	0.15372	5.07E-4	0.003721	ENSG00000172986	ENST00000389617	T	0.48201	0.82	5.44	4.28	0.50868	.	0.276343	0.40144	N	0.001180	T	0.26882	0.0658	N	0.08118	0	0.31353	N	0.682303	B	0.11235	0.004	B	0.20384	0.029	T	0.19745	-1.0296	10	0.20519	T	0.43	.	11.3686	0.49687	0.9289:0.0:0.0711:0.0	.	119	A0PJZ3	GXLT2_HUMAN	S	119	ENSP00000374268:N119S	ENSP00000374268:N119S	N	+	2	0	GXYLT2	73040288	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.201000	0.58439	0.895000	0.36342	-0.274000	0.10170	AAT		0.547	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		4	58	0	0	0	1	0	4	58				
VANGL1	81839	broad.mit.edu	37	1	116206351	116206351	+	Missense_Mutation	SNP	A	A	G	rs143196463	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:116206351A>G	ENST00000355485.2	+	4	545	c.274A>G	c.(274-276)Att>Gtt	p.I92V	VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V|VANGL1_ENST00000369510.4_Missense_Mutation_p.I90V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	92					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCAAGAGGACATTGCCAGGAT	0.562													A|||	3	0.000599042	0.0	0.0014	5008	,	,		17761	0.0		0.002	False		,,,				2504	0.0					ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(274-276)Att>Gtt		VANGL planar cell polarity protein 1		A	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	153.0	137.0	143.0		268,274,274	4.9	1.0	1	dbSNP_134	143	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense,missense	VANGL1	NM_001172411.1,NM_001172412.1,NM_138959.2	29,29,29	0,8,6495	GG,GA,AA		0.093,0.0,0.0615	benign,benign,benign	90/523,92/525,92/525	116206351	8,12998	2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206351A>G	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.274A>G	1.37:g.116206351A>G	ENSP00000347672:p.Ile92Val					VANGL1_ENST00000369510.3_Missense_Mutation_p.I90V|VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V	p.I92V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	545	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	92					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.274A>G	CCDS883.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	3.078	-0.189688	0.06299	0.0	9.3E-4	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.92	4.92	0.64577	.	0.124680	0.52532	D	0.000069	T	0.45196	0.1330	N	0.11284	0.12	0.46149	D	0.99889	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.46275	-0.9203	10	0.12430	T	0.62	-11.1911	11.6904	0.51512	0.8523:0.1477:0.0:0.0	.	90;92	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	V	92;90;92;92	ENSP00000347672:I92V;ENSP00000358523:I90V;ENSP00000310800:I92V;ENSP00000358522:I92V	ENSP00000310800:I92V	I	+	1	0	VANGL1	116007874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.113000	0.31184	2.197000	0.70478	0.528000	0.53228	ATT		0.562	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			6	138	0	0	0	1	0	6	138				
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			3	3						3	3	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	6						4	6	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0					ENST00000331425.6																			0																																																			0							g.chr7:62752415_62752416insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC								NR_003952.1						0	1019_1020	-									RNA	INS	ENST00000331425.6	37																																																																																						0.421	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	84						7	84	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	224						7	224	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		8	399						8	399	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		12	296						12	296	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2068-2070)gtfs		MIS18 binding protein 1				10,4254		2,6,2124	97.0	100.0	99.0			-1.0	0.0	14		100	20,8234		2,16,4109	no	frameshift	MIS18BP1	NM_018353.4		4,22,6233	A1A1,A1R,RR		0.2423,0.2345,0.2397			45693722	30,12488	2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693722delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2068delA	14.37:g.45693722delT	ENSP00000309790:p.Ser690fs						p.S690fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2526	-			690					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2068delA	CCDS9684.1																																																																																				0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			9	179						9	179	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		86	45						86	45	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	42						7	42	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885859	29885876	+	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	rs546363585|rs57188573|rs59890097|rs532587474|rs165923	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG	ENST00000310624.6	+	4	2263_2280	c.2230_2247delGCTAAGTCCCCAGAGAAG	c.(2230-2247)gctaagtccccagagaagdel	p.AKSPEK750del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	756	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC	0.55														165	0.0329473	0.0	0.0303	5008	,	,		19796	0.1339		0.0	False		,,,				2504	0.0092					ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30	GRCh37	CD991813	NEFH	D	rs165923	c.(2230-2247)del		neurofilament, heavy polypeptide				2483,1779		947,589,595				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-3.4	0.1		dbSNP_129	102	4379,3869		1463,1453,1208	no	coding	NEFH	NM_021076.3		2410,2042,1803	A1A1,A1R,RR		46.9083,41.741,45.1479				6862,5648				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2230_2247delGCTAAGTCCCCAGAGAAG	22.37:g.29885859_29885876delGCTAAGTCCCCAGAGAAG	ENSP00000311997:p.Ala750_Lys755del						p.AKSPEK750del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2263_2280	+			756			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.2230_2247delGCTAAGTCCCCAGAGAAG	CCDS13858.1																																																																																				0.550	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		39	211						39	211	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928115	92928135	+	In_Frame_Del	DEL	GCTGCTGCTGCTGCCGCTGCC	GCTGCTGCTGCTGCCGCTGCC	-	rs190447192		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC	ENST00000373079.3	-	1	432_452	c.169_189delGGCAGCGGCAGCAGCAGCAGC	c.(169-189)ggcagcggcagcagcagcagcdel	p.GSGSSSS57del	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.GSGSSSS50del|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tgccgctgctgctgctgctgctgccgctgccgctgctgctg	0.597														29	0.00768212	0.0	0.0331	3775	,	,		11040	0.002		0.0	False		,,,				2504	0.0041					ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(169-189)del		nucleosome assembly protein 1-like 3				167,2764		52,33,30,1183,365						-0.8	0.1			9	232,4911		52,50,78,1831,1199	no	coding	NAP1L3	NM_004538.5		104,83,108,3014,1564	A1A1,A1R,A1,RR,R		4.511,5.6977,4.9418				399,7675				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.169_189delGGCAGCGGCAGCAGCAGCAGC	X.37:g.92928115_92928135delGCTGCTGCTGCTGCCGCTGCC	ENSP00000362171:p.Gly57_Ser63del					NAP1L3_ENST00000475430.1_5'UTR	p.GSGSSSS57del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	432_452	-			57			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.169_189delGGCAGCGGCAGCAGCAGCAGC	CCDS14465.1																																																																																				0.597	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		24	34						24	34	---	---	---	---
