#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
PLEC	5339	broad.mit.edu	37	8	145007232	145007232	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr8:145007232T>A	ENST00000322810.4	-	14	2046	c.1877A>T	c.(1876-1878)aAc>aTc	p.N626I	PLEC_ENST00000345136.3_Missense_Mutation_p.N489I|PLEC_ENST00000354958.2_Missense_Mutation_p.N467I|PLEC_ENST00000356346.3_Missense_Mutation_p.N475I|PLEC_ENST00000398774.2_Missense_Mutation_p.N457I|PLEC_ENST00000436759.2_Missense_Mutation_p.N516I|PLEC_ENST00000527096.1_Missense_Mutation_p.N512I|PLEC_ENST00000357649.2_Missense_Mutation_p.N493I|PLEC_ENST00000354589.3_Missense_Mutation_p.N489I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	626	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCGTAGGTTGTACTCGGT	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1876-1878)aAc>aTc		plectin							13.0	18.0	17.0					8																	145007232		2018	4163	6181	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007232T>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1877A>T	8.37:g.145007232T>A	ENSP00000323856:p.Asn626Ile					PLEC_ENST00000527096.1_Missense_Mutation_p.N512I|PLEC_ENST00000356346.3_Missense_Mutation_p.N475I|PLEC_ENST00000357649.2_Missense_Mutation_p.N493I|PLEC_ENST00000436759.2_Missense_Mutation_p.N516I|PLEC_ENST00000398774.2_Missense_Mutation_p.N457I|PLEC_ENST00000354958.2_Missense_Mutation_p.N467I|PLEC_ENST00000354589.3_Missense_Mutation_p.N489I|PLEC_ENST00000345136.3_Missense_Mutation_p.N489I	p.N626I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2046	-			626			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1877A>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625914	0.46840	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90069	-1.1;-1.1;-1.13;-1.13;-1.12;-1.1;-1.1;-1.1;-1.1;-2.61	5.21	4.03	0.46877	.	0.073224	0.50627	U	0.000111	D	0.92502	0.7619	M	0.69823	2.125	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D;D;D;P;D;D;D;D	0.64687	0.928;0.928;0.928;0.849;0.928;0.928;0.928;0.928	D	0.91865	0.5502	10	0.59425	D	0.04	.	11.246	0.48998	0.0:0.0:0.1536:0.8464	.	516;475;467;626;457;489;493;489	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	489;493;489;457;626;467;475;516;512;533	ENSP00000344848:N489I;ENSP00000350277:N493I;ENSP00000346602:N489I;ENSP00000381756:N457I;ENSP00000323856:N626I;ENSP00000347044:N467I;ENSP00000348702:N475I;ENSP00000388180:N516I;ENSP00000434583:N512I;ENSP00000437303:N533I	ENSP00000323856:N626I	N	-	2	0	PLEC	145079220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.658000	0.68003	0.798000	0.33994	0.523000	0.50628	AAC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	5	0	0	0	1	0	6	5				
LRP10	26020	broad.mit.edu	37	14	23345043	23345043	+	Missense_Mutation	SNP	C	C	T	rs377217522		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr14:23345043C>T	ENST00000359591.4	+	5	1577	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	LRP10_ENST00000546834.1_Missense_Mutation_p.R296C	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	296	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGCAATGGTCGTGGCTTCAA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23232	0.0		0.0	False		,,,				2504	0.0					ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(886-888)Cgt>Tgt		low density lipoprotein receptor-related protein 10		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	82.0	87.0		886	4.3	1.0	14		87	0,8600		0,0,4300	no	missense	LRP10	NM_014045.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	296/714	23345043	1,13005	2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345043C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.886C>T	14.37:g.23345043C>T	ENSP00000352601:p.Arg296Cys					LRP10_ENST00000546834.1_Missense_Mutation_p.R296C	p.R296C	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1577	+	all_cancers(95;4.69e-05)		296			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.886C>T	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268076|3.268076	0.59540|0.59540	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	T;T|.	0.20069|.	2.1;2.1|.	5.24|5.24	4.35|4.35	0.52113|0.52113	CUB (5);|.	0.172208|.	0.49916|.	D|.	0.000137|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75300|0.75300	-0.3366|-0.3366	10|5	0.26408|.	T|.	0.33|.	-26.4614|-26.4614	14.8277|14.8277	0.70125|0.70125	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	296|.	Q7Z4F1|.	LRP10_HUMAN|.	C|L	296|197	ENSP00000352601:R296C;ENSP00000447559:R296C|.	ENSP00000352601:R296C|.	R|S	+|+	1|2	0|0	LRP10|LRP10	22414883|22414883	0.037000|0.037000	0.19845|0.19845	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	2.586000|2.586000	0.46119|0.46119	1.517000|1.517000	0.48917|0.48917	-0.181000|-0.181000	0.13052|0.13052	CGT|TCG		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			23	68	0	0	0	1	0	23	68				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	71	0	0	0	1	0	5	71				
KCNC3	3748	broad.mit.edu	37	19	50823987	50823987	+	Missense_Mutation	SNP	G	G	A	rs376319810		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:50823987G>A	ENST00000477616.1	-	3	2327	c.2033C>T	c.(2032-2034)cCa>cTa	p.P678L	KCNC3_ENST00000376959.2_Missense_Mutation_p.P678L|KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000391818.2_Nonsense_Mutation_p.Q15*	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	678					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GTCAATGGCTGGGCAGTCCTC	0.642																																					Melanoma(91;1496 2324 50908)	ENST00000391818.2																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(43-45)Cag>Tag		potassium voltage-gated channel, Shaw-related subfamily, member 3							51.0	48.0	49.0					19																	50823987		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50823987G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2033C>T	19.37:g.50823987G>A	ENSP00000434241:p.Pro678Leu					KCNC3_ENST00000376959.2_Missense_Mutation_p.P678L|KCNC3_ENST00000477616.1_Missense_Mutation_p.P678L|KCNC3_ENST00000474951.1_5'UTR	p.Q15*			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	101	-		all_neural(266;0.057)|Ovarian(192;0.208)	29						Nonsense_Mutation	SNP	ENST00000477616.1	37	c.43C>T	CCDS12793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.568792|4.568792	0.86439|0.86439	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843|ENST00000391818	D;D|.	0.98747|.	-4.94;-5.11|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	7.292050|.	0.01802|.	U|.	0.032936|.	T|.	0.51244|.	0.1663|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	A|A	1|1	D;D|.	0.89917|.	1.0;0.994|.	D;P|.	0.80764|.	0.994;0.908|.	T|.	0.66252|.	-0.5970|.	9|.	0.72032|0.87932	D|D	0.01|0	.|.	11.2081|11.2081	0.48782|0.48782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	678;678|.	Q14003;E7ETH1|.	KCNC3_HUMAN;.|.	L|X	678;678;492|15	ENSP00000366158:P678L;ENSP00000434241:P678L|.	ENSP00000366158:P678L|ENSP00000375694:Q15X	P|Q	-|-	2|1	0|0	KCNC3|KCNC3	55515799|55515799	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.871000|0.871000	0.50021|0.50021	8.196000|8.196000	0.89725|0.89725	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	CCA|CAG		0.642	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		5	39	0	0	0	1	0	5	39				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	117	0	0	0	1	0	6	117				
CDK5RAP2	55755	broad.mit.edu	37	9	123210305	123210305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr9:123210305G>A	ENST00000349780.4	-	22	3072	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q933*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	965	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATCTGGCTCTGCAGCTGCGTC	0.498																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2893-2895)Cag>Tag		CDK5 regulatory subunit associated protein 2							101.0	102.0	102.0					9																	123210305		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123210305G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2893C>T	9.37:g.123210305G>A	ENSP00000343818:p.Gln965*					CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q933*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q965*	p.Q965*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			22	3072	-			965			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.2893C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732799	0.89482	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.77	4.77	0.60923	.	0.308515	0.23455	N	0.047994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.1226	0.36797	0.1022:0.0:0.8978:0.0	.	.	.	.	X	933;965;965;965;359;16;737	.	ENSP00000341695:Q737X	Q	-	1	0	CDK5RAP2	122250126	0.999000	0.42202	0.990000	0.47175	0.449000	0.32228	5.054000	0.64275	2.184000	0.69523	0.467000	0.42956	CAG		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		9	109	0	0	0	1	0	9	109				
PCDH1	5097	broad.mit.edu	37	5	141244422	141244422	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr5:141244422G>A	ENST00000394536.3	-	3	1613	c.1474C>T	c.(1474-1476)Ctc>Ttc	p.L492F	PCDH1_ENST00000536585.1_Missense_Mutation_p.L470F|PCDH1_ENST00000287008.3_Missense_Mutation_p.L492F|PCDH1_ENST00000456271.1_Missense_Mutation_p.L480F|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	492	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCACCTTGAGGGAGTTAGTG	0.542																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1474-1476)Ctc>Ttc		protocadherin 1							152.0	140.0	144.0					5																	141244422		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244422G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1474C>T	5.37:g.141244422G>A	ENSP00000378043:p.Leu492Phe					PCDH1_ENST00000536585.1_Missense_Mutation_p.L470F|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.L480F|PCDH1_ENST00000394536.3_Missense_Mutation_p.L492F	p.L492F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1621	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	492			Cadherin 4.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.1474C>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015958	0.54468	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000325	T	0.62768	0.2455	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63501	-0.6623	10	0.87932	D	0	.	17.4554	0.87605	0.0:0.0:1.0:0.0	.	492;492	Q08174;Q08174-2	PCDH1_HUMAN;.	F	492;492;480;503;470	ENSP00000287008:L492F;ENSP00000378043:L492F;ENSP00000403497:L480F;ENSP00000350122:L503F;ENSP00000438825:L470F	ENSP00000287008:L492F	L	-	1	0	PCDH1	141224606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.802000	0.47916	2.736000	0.93811	0.550000	0.68814	CTC		0.542	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		19	126	0	0	0	1	0	19	126				
PRCP	5547	broad.mit.edu	37	11	82611440	82611440	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr11:82611440C>T	ENST00000313010.3	-	1	199	c.5G>A	c.(4-6)gGc>gAc	p.G2D	C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.G2D|C11orf82_ENST00000524921.1_5'Flank|PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000525388.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000528759.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	2					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGCTCGGCGGCCCATGGCTCA	0.687																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(4-6)gGc>gAc		prolylcarboxypeptidase (angiotensinase C)							31.0	31.0	31.0					11																	82611440		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82611440C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.5G>A	11.37:g.82611440C>T	ENSP00000317362:p.Gly2Asp					PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.G2D	p.G2D	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			1	199	-			2					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.5G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787397	0.70337	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.23147	2.49;1.92	4.02	2.15	0.27550	.	4.781430	0.00424	N	0.000079	T	0.14313	0.0346	N	0.08118	0	0.80722	D	1	B;B	0.18610	0.029;0.029	B;B	0.13407	0.009;0.009	T	0.25152	-1.0140	9	.	.	.	-0.4618	6.1191	0.20144	0.0:0.771:0.0:0.229	.	2;2	P42785;A8MU24	PCP_HUMAN;.	D	2	ENSP00000317362:G2D;ENSP00000377055:G2D	.	G	-	2	0	PRCP	82289088	0.098000	0.21812	0.846000	0.33378	0.953000	0.61014	0.000000	0.12993	0.669000	0.31146	0.557000	0.71058	GGC		0.687	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		9	30	0	0	0	1	0	9	30				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		11	40	0	0	0	1	0	11	40				
ESYT3	83850	broad.mit.edu	37	3	138191501	138191501	+	Silent	SNP	C	C	T	rs368985977		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr3:138191501C>T	ENST00000389567.4	+	18	2223	c.2037C>T	c.(2035-2037)atC>atT	p.I679I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	679					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGAGCCCATCGGGGAGAAGA	0.597																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2035-2037)atC>atT		extended synaptotagmin-like protein 3		C		4,4228		0,4,2112	104.0	122.0	116.0		2037	-0.2	0.0	3		116	0,8456		0,0,4228	no	coding-synonymous	ESYT3	NM_031913.3		0,4,6340	TT,TC,CC		0.0,0.0945,0.0315		679/887	138191501	4,12684	2116	4228	6344	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138191501C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2037C>T	3.37:g.138191501C>T							p.I679I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2223	+			679					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.2037C>T	CCDS3101.2																																																																																				0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		30	85	0	0	0	1	0	30	85				
PLSCR4	57088	broad.mit.edu	37	3	145914466	145914466	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr3:145914466G>A	ENST00000354952.2	-	7	979	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	PLSCR4_ENST00000493382.1_Missense_Mutation_p.R247C|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R157C|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R142C|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R247C	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	247					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATGGCCCACGAACTCTCATC	0.423																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(739-741)Cgt>Tgt		phospholipid scramblase 4							159.0	140.0	147.0					3																	145914466		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145914466G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.739C>T	3.37:g.145914466G>A	ENSP00000347038:p.Arg247Cys					PLSCR4_ENST00000493382.1_Missense_Mutation_p.R247C|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R142C|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R157C|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R247C	p.R247C	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			7	979	-			247					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.739C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483829	0.26598	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350	T;T;T;T;T;T	0.31510	1.49;1.88;1.88;1.49;1.49;1.88	5.17	3.28	0.37604	.	0.839546	0.10362	N	0.683824	T	0.38665	0.1049	L	0.47190	1.495	0.09310	N	1	D;B	0.71674	0.998;0.139	P;B	0.54815	0.761;0.028	T	0.12708	-1.0537	10	0.44086	T	0.13	.	8.8085	0.34952	0.0:0.1322:0.4671:0.4007	.	157;247	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	C	247;157;142;247;247;247	ENSP00000347038:R247C;ENSP00000372561:R157C;ENSP00000415605:R142C;ENSP00000399315:R247C;ENSP00000419040:R247C;ENSP00000417896:R247C	ENSP00000347038:R247C	R	-	1	0	PLSCR4	147397156	0.000000	0.05858	0.072000	0.20136	0.960000	0.62799	-0.174000	0.09839	1.378000	0.46305	0.655000	0.94253	CGT		0.423	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		43	75	0	0	0	1	0	43	75				
DSPP	1834	broad.mit.edu	37	4	88534400	88534400	+	Silent	SNP	C	C	T			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr4:88534400C>T	ENST00000282478.7	+	3	1095	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.R354R			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	354					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAAGCAAACGCGTAGAAAATA	0.418																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1060-1062)cgC>cgT		dentin sialophosphoprotein							38.0	37.0	37.0					4																	88534400		1881	4087	5968	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534400C>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1062C>T	4.37:g.88534400C>T						RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.R354R	p.R354R	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1182	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	354					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.1062C>T	CCDS43248.1																																																																																				0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		28	39	0	0	0	1	0	28	39				
ZNF644	84146	broad.mit.edu	37	1	91403245	91403245	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr1:91403245C>A	ENST00000370440.1	-	4	3702	c.3485G>T	c.(3484-3486)aGt>aTt	p.S1162I	ZNF644_ENST00000337393.5_Missense_Mutation_p.S1162I|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTTTTCCCACTGGGCAGTTC	0.373																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3484-3486)aGt>aTt		zinc finger protein 644							110.0	114.0	113.0					1																	91403245		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403245C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3485G>T	1.37:g.91403245C>A	ENSP00000359469:p.Ser1162Ile					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S1162I|ZNF644_ENST00000467231.1_Intron	p.S1162I			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3702	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1162					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3485G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524803	0.27299	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00594	6.33;6.33	6.06	5.1	0.69264	.	0.270374	0.43416	D	0.000571	T	0.00178	0.0005	N	0.08118	0	0.36568	D	0.872845	B	0.21381	0.055	B	0.13407	0.009	T	0.57980	-0.7717	10	0.59425	D	0.04	-8.5743	6.0782	0.19927	0.0:0.6955:0.1906:0.114	.	1162	Q9H582	ZN644_HUMAN	I	1162	ENSP00000359469:S1162I;ENSP00000337008:S1162I	ENSP00000337008:S1162I	S	-	2	0	ZNF644	91175833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.785000	0.38684	2.882000	0.98803	0.655000	0.94253	AGT		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	149	1	0	0.000978159	1	0.000999423	12	149				
DDC	1644	broad.mit.edu	37	7	50530960	50530960	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr7:50530960G>A	ENST00000444124.2	-	14	1612	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	DDC_ENST00000357936.5_Missense_Mutation_p.A471V|DDC_ENST00000426377.1_Missense_Mutation_p.A393V|DDC_ENST00000431062.1_Missense_Mutation_p.A378V	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	471					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CACGTCGGCCGCCAGCTCTTT	0.597																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1411-1413)gCg>gTg		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						65.0	55.0	58.0					7																	50530960		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530960G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1412C>T	7.37:g.50530960G>A	ENSP00000403644:p.Ala471Val					DDC_ENST00000426377.1_Missense_Mutation_p.A393V|DDC_ENST00000431062.1_Missense_Mutation_p.A378V|DDC_ENST00000357936.5_Missense_Mutation_p.A471V	p.A471V	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			14	1612	-	Glioma(55;0.08)|all_neural(89;0.245)		471					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1412C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.91|19.91	3.914187|3.914187	0.72983|0.72983	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.099792|.	0.64402|.	D|.	0.000002|.	D|D	0.84768|0.84768	0.5545|0.5545	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	P;P|.	0.51537|.	0.946;0.946|.	B;B|.	0.34180|.	0.177;0.177|.	D|D	0.86934|0.86934	0.2075|0.2075	10|5	0.87932|.	D|.	0|.	-27.2516|-27.2516	19.2638|19.2638	0.93979|0.93979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	471;471|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	V|W	471;378;393;471|352	ENSP00000350616:A471V;ENSP00000399184:A378V;ENSP00000395069:A393V;ENSP00000403644:A471V|.	ENSP00000350616:A471V|.	A|R	-|-	2|1	0|2	DDC|DDC	50498454|50498454	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.033000|0.033000	0.12548|0.12548	7.478000|7.478000	0.81082|0.81082	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.597	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	21	0	0	0	1	0	4	21				
ADD3	120	broad.mit.edu	37	10	111860594	111860594	+	Silent	SNP	C	C	T	rs376781474		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr10:111860594C>T	ENST00000356080.4	+	2	550	c.183C>T	c.(181-183)atC>atT	p.I61I	ADD3_ENST00000277900.8_Silent_p.I61I|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Silent_p.I61I	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	61						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTACTCAGATCCTGCAAAGTC	0.398																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(181-183)atC>atT		adducin 3 (gamma)		C	,,	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		183,183,183	1.5	1.0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADD3	NM_001121.2,NM_016824.3,NM_019903.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	61/675,61/707,61/675	111860594	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111860594C>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.183C>T	10.37:g.111860594C>T						ADD3_ENST00000356080.4_Silent_p.I61I|ADD3_ENST00000360162.3_Silent_p.I61I|ADD3_ENST00000497125.1_3'UTR	p.I61I	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	2	548	+		Breast(234;0.052)|Lung NSC(174;0.223)	61					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.183C>T	CCDS7561.1																																																																																				0.398	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		9	51	0	0	0	1	0	9	51				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		6	9	0	0	0	1	0	6	9				
TECR	9524	broad.mit.edu	37	19	14674833	14674833	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:14674833C>G	ENST00000215567.5	+	6	444	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.L118V	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	103					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TTTCATCTACCTGCTCTTCTA	0.557																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(352-354)Ctg>Gtg		trans-2,3-enoyl-CoA reductase							186.0	198.0	194.0					19																	14674833		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674833C>G	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.307C>G	19.37:g.14674833C>G	ENSP00000215567:p.Leu103Val					TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.L103V|TECR_ENST00000596073.1_5'UTR	p.L118V			Q9NZ01	TECR_HUMAN			7	476	+			103					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.352C>G	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776448	0.70107	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.26810	1.72;1.71	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.38612	0.1047	M	0.74389	2.26	0.58432	D	0.999996	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.47744	0.556;0.556;0.556	T	0.36529	-0.9744	10	0.51188	T	0.08	-9.8364	15.8423	0.78857	0.0:1.0:0.0:0.0	.	103;118;103	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	V	103;118	ENSP00000215567:L103V;ENSP00000397206:L118V	ENSP00000215567:L103V	L	+	1	2	TECR	14535833	0.073000	0.21202	1.000000	0.80357	0.960000	0.62799	0.432000	0.21461	2.335000	0.79485	0.455000	0.32223	CTG		0.557	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		25	193	0	0	0	1	0	25	193				
SMARCB1	6598	broad.mit.edu	37	22	24167513	24167513	+	Silent	SNP	G	G	A	rs587779751|rs2229354	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr22:24167513G>A	ENST00000263121.7	+	7	1093	c.897G>A	c.(895-897)tcG>tcA	p.S299S	SMARCB1_ENST00000344921.6_Silent_p.S308S|SMARCB1_ENST00000407422.3_Silent_p.S290S|SMARCB1_ENST00000407082.3_Silent_p.S253S	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	299	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.S299S(4)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGCTGTGCTCGGAGCTGGGGT	0.547			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							G|||	527	0.105232	0.0983	0.0706	5008	,	,		18521	0.0595		0.1153	False		,,,				2504	0.1759					ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		11	Unknown(6)|Substitution - coding silent(4)|Deletion - In frame(1)	p.?(6)|p.S299S(4)|p.L266_*386del(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|soft_tissue(1)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(922-924)tcG>tcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1		G	,	402,4004	198.4+/-222.2	17,368,1818	107.0	82.0	91.0		870,897	-11.4	0.1	22	dbSNP_98	91	983,7617	213.1+/-253.2	62,859,3379	no	coding-synonymous,coding-synonymous	SMARCB1	NM_001007468.1,NM_003073.3	,	79,1227,5197	AA,AG,GG		11.4302,9.1239,10.6489	,	290/377,299/386	24167513	1385,11621	2203	4300	6503	SO:0001819	synonymous_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24167513G>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.897G>A	22.37:g.24167513G>A						SMARCB1_ENST00000407422.3_Silent_p.S290S|SMARCB1_ENST00000407082.3_Silent_p.S253S|SMARCB1_ENST00000263121.7_Silent_p.S299S	p.S308S			Q12824	SNF5_HUMAN			7	1131	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	299			2 X approximate tandem repeats.|Interaction with PPP1R15A.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	c.924G>A	CCDS13817.1																																																																																				0.547	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		4	68	0	0	0	1	0	4	68				
KCNA1	3736	broad.mit.edu	37	12	5021754	5021754	+	Missense_Mutation	SNP	G	G	A	rs104894355		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr12:5021754G>A	ENST00000382545.3	+	2	2317	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	404			V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters). {ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:9600245}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TGCCCTGCCCGTACCTGTCAT	0.522																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63	GRCh37	CM981109	KCNA1	M	rs104894355	c.(1210-1212)Gta>Ata		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						317.0	308.0	311.0					12																	5021754		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021754G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1210G>A	12.37:g.5021754G>A	ENSP00000371985:p.Val404Ile					KCNA1_ENST00000543874.2_Intron	p.V404I	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2317	+			404		V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters).			A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1210G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460654	0.84317	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98044	-4.68	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	M	0.64404	1.975	0.80722	A	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97967	1.0341	9	0.38643	T	0.18	.	17.6066	0.88040	0.0:0.0:1.0:0.0	.	404	Q09470	KCNA1_HUMAN	I	404	ENSP00000371985:V404I	ENSP00000228858:V404I	V	+	1	0	KCNA1	4892015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.691000	0.91804	0.655000	0.94253	GTA		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		144	246	0	0	0	1	0	144	246				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	46	0	0	0	1	0	4	46				
OR51T1	401665	broad.mit.edu	37	11	4903279	4903279	+	Silent	SNP	C	C	T			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr11:4903279C>T	ENST00000322049.1	+	1	150	c.150C>T	c.(148-150)gtC>gtT	p.V50V	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.V77V|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTTGTCATCATTACTA	0.483																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(229-231)gtC>gtT		olfactory receptor, family 51, subfamily T, member 1							198.0	173.0	182.0					11																	4903279		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903279C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.150C>T	11.37:g.4903279C>T						MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.V50V|MMP26_ENST00000380390.1_Intron	p.V77V	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	231	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	50					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.231C>T																																																																																					0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		34	81	0	0	0	1	0	34	81				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	110	0	0	0	1	0	5	110				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	31	0	0	0	1	0	3	31				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	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		28	53	0	0	0	1	0	28	53				
GGN	199720	broad.mit.edu	37	19	38877231	38877231	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:38877231G>A	ENST00000334928.6	-	3	803	c.671C>T	c.(670-672)gCg>gTg	p.A224V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	224	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTCGCCCGCATGGGGAGG	0.692																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(670-672)gCg>gTg		gametogenetin							9.0	11.0	11.0					19																	38877231		2116	4172	6288	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877231G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.671C>T	19.37:g.38877231G>A	ENSP00000334940:p.Ala224Val					GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.A224V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	803	-	all_cancers(60;3.4e-06)		224			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.671C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122771	0.20877	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.82	0.136	0.14780	.	0.398016	0.18154	N	0.149992	T	0.12732	0.0309	N	0.24115	0.695	0.09310	N	1	P;P	0.50272	0.858;0.933	B;B	0.33846	0.171;0.171	T	0.22068	-1.0227	9	0.54805	T	0.06	-9.3017	3.8411	0.08914	0.2419:0.2025:0.5557:0.0	.	141;224	Q86UU5-2;Q86UU5	.;GGN_HUMAN	V	224	.	ENSP00000334940:A224V	A	-	2	0	GGN	43569071	0.001000	0.12720	0.003000	0.11579	0.185000	0.23345	0.364000	0.20325	0.276000	0.22118	0.462000	0.41574	GCG		0.692	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		3	32	0	0	0	1	0	3	32				
COX10-AS1	100874058	broad.mit.edu	37	17	13927886	13927886	+	RNA	SNP	G	G	A	rs11649821	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr17:13927886G>A	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		AACGGAGGGAGTGAGAGCCTT	0.562													-|||	683	0.136382	0.0968	0.147	5008	,	,		18512	0.1121		0.1849	False		,,,				2504	0.1575					ENST00000602743.1																			0																																																			0							g.chr17:13927886G>A			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927886G>A														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.562	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			3	14	0	0	0	1	0	3	14				
M1AP	130951	broad.mit.edu	37	2	74803681	74803681	+	Silent	SNP	G	G	A			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr2:74803681G>A	ENST00000290536.5	-	6	950	c.834C>T	c.(832-834)gaC>gaT	p.D278D	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.D278D|M1AP_ENST00000358434.2_De_novo_Start_OutOfFrame|M1AP_ENST00000409585.1_Silent_p.D278D	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	278					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCAAGGAGCCGTCAGCTGTGC	0.483																																						ENST00000358434.2																			0													meiosis 1 associated protein							104.0	96.0	99.0					2																	74803681		2203	4300	6503	SO:0001819	synonymous_variant	130951							g.chr2:74803681G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.834C>T	2.37:g.74803681G>A						M1AP_ENST00000290536.5_Silent_p.D278D|M1AP_ENST00000409585.1_Silent_p.D278D|M1AP_ENST00000536235.1_Silent_p.D278D|M1AP_ENST00000464686.1_5'UTR								0	950	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Translation_Start_Site	SNP	ENST00000290536.5	37		CCDS33229.1																																																																																				0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		8	36	0	0	0	1	0	8	36				
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562|rs199577504		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.38																																						ENST00000326237.3																			0																																																			0							g.chr3:10035779_10035783delAGTCT																													3.37:g.10035779_10035783delAGTCT														0	354	+									RNA	DEL	ENST00000326237.3	37																																																																																						0.380	AC034193.5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339468.1			9	52						9	52	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																						ENST00000303991.4																			1	Substitution - coding silent(1)	p.L238L(1)	lung(1)	NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(691-717)aga>ag		G protein regulated inducer of neurite outgrowth 1				863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				SO:0001651	inframe_deletion	114787					growth cone|plasma membrane		g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del						p.RKEDPGSLR231del	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	870_893	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	231	Missing (in Ref. 4; CAD38868).				C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		36	104						36	104	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767611	66767612	+	RNA	DEL	TT	TT	-	rs12531701	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr7:66767611_66767612delTT	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		ACCGGACTGCTTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767611_66767612delTT	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767621_66767622delTT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	4_5	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	DEL	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		4	6						4	6	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000539652.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(520-522)tagfs		transmembrane BAX inhibitor motif containing 4																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR	p.*174fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	640_641	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.520_521insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		7	42						7	42	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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)			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)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				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.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	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.chr12:132547135_132547136insCAG	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.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	55						11	55	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67267852	67267852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr16:67267852delG	ENST00000258201.4	-	13	2001	c.1754delC	c.(1753-1755)cctfs	p.P587fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	587	FH1.|Poly-Pro.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.P585fs*43(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAGTGGGGGAGGGGGGGGTAC	0.622																																						ENST00000258201.4																			1	Deletion - Frameshift(1)	p.P585fs*43(1)	breast(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1753-1755)ctfs		formin homology 2 domain containing 1				50,48,4008		3,0,44,3,42,1961	9.0	11.0	11.0			1.3	1.0	16		10	110,94,7566		4,1,101,4,85,3690	no	codingComplex	FHOD1	NM_013241.2		7,1,145,7,127,5651	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6255,2.3868,2.5429			67267852	160,142,11574	2155	4160	6315	SO:0001589	frameshift_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67267852delG	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1754delC	16.37:g.67267852delG	ENSP00000258201:p.Pro587fs					FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs	p.P587fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	13	2001	-		Ovarian(137;0.0563)	587			FH1.|Poly-Pro.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Del	DEL	ENST00000258201.4	37	c.1754delC	CCDS10834.1																																																																																				0.622	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			10	15						10	15	---	---	---	---
