#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
SH3TC1	54436	broad.mit.edu	37	4	8221109	8221109	+	Missense_Mutation	SNP	G	G	A	rs141127247		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:8221109G>A	ENST00000245105.3	+	9	1031	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	SH3TC1_ENST00000539824.1_Missense_Mutation_p.E246K	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	322	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCGGGGCCCGAAGAGATGAC	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(736-738)Gaa>Aaa		SH3 domain and tetratricopeptide repeats 1		G	LYS/GLU	0,4406		0,0,2203	52.0	58.0	56.0		964	4.2	0.4	4	dbSNP_134	56	1,8595	1.2+/-3.3	0,1,4297	no	missense	SH3TC1	NM_018986.3	56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	322/1337	8221109	1,13001	2203	4298	6501	SO:0001583	missense	54436						binding	g.chr4:8221109G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.964G>A	4.37:g.8221109G>A	ENSP00000245105:p.Glu322Lys					SH3TC1_ENST00000245105.3_Missense_Mutation_p.E322K	p.E246K			Q8TE82	S3TC1_HUMAN			9	1110	+			322					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.736G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210115	0.79240	0.0	1.16E-4	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.17528	2.27;2.27;2.27	4.21	4.21	0.49690	Src homology-3 domain (3);	0.146689	0.44902	D	0.000405	T	0.29491	0.0735	L	0.53249	1.67	0.40369	D	0.979325	D	0.64830	0.994	P	0.55011	0.766	T	0.07888	-1.0749	10	0.66056	D	0.02	-8.9719	13.7276	0.62767	0.0:0.0:1.0:0.0	.	322	Q8TE82	S3TC1_HUMAN	K	60;322;246;151;131	ENSP00000245105:E322K;ENSP00000441045:E246K;ENSP00000426035:E131K	ENSP00000245105:E322K	E	+	1	0	SH3TC1	8272009	1.000000	0.71417	0.413000	0.26509	0.501000	0.33797	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAA		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		18	98	0	0	0	0.557998	0	18	98				
PLEKHG4B	153478	broad.mit.edu	37	5	163530	163530	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:163530A>C	ENST00000283426.6	+	11	2325	c.2275A>C	c.(2275-2277)Agc>Cgc	p.S759R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	759							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGGTAACCAGCACTGTAGC	0.622																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2275-2277)Agc>Cgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							45.0	54.0	51.0					5																	163530		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163530A>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2275A>C	5.37:g.163530A>C	ENSP00000283426:p.Ser759Arg						p.S759R	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2325	+			759						Missense_Mutation	SNP	ENST00000283426.6	37	c.2275A>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304615	0.23736	.	.	ENSG00000153404	ENST00000283426	T	0.34667	1.35	3.01	0.487	0.16842	.	.	.	.	.	T	0.33000	0.0848	N	0.24115	0.695	0.23346	N	0.997863	D	0.60160	0.987	P	0.56278	0.795	T	0.15065	-1.0450	9	0.52906	T	0.07	.	4.7895	0.13241	0.6937:0.0:0.3063:0.0	.	759	Q96PX9	PKH4B_HUMAN	R	759	ENSP00000283426:S759R	ENSP00000283426:S759R	S	+	1	0	PLEKHG4B	216530	1.000000	0.71417	0.156000	0.22583	0.046000	0.14306	2.618000	0.46393	-0.229000	0.09854	0.260000	0.18958	AGC		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		44	82	0	0	0	0.853193	0	44	82				
PHYHIPL	84457	broad.mit.edu	37	10	60994191	60994191	+	Silent	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:60994191T>C	ENST00000373880.4	+	2	498	c.234T>C	c.(232-234)gaT>gaC	p.D78D	PHYHIPL_ENST00000373878.3_Silent_p.D52D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	78	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATCAAAGGATCGCATTACAC	0.323																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(232-234)gaT>gaC		phytanoyl-CoA 2-hydroxylase interacting protein-like							105.0	93.0	97.0					10																	60994191		2203	4300	6503	SO:0001819	synonymous_variant	84457							g.chr10:60994191T>C	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.234T>C	10.37:g.60994191T>C						PHYHIPL_ENST00000373878.3_Silent_p.D52D	p.D78D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			2	498	+			78			Fibronectin type-III.		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	c.234T>C	CCDS7254.1																																																																																				0.323	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		31	49	0	0	0	0.729181	0	31	49				
FRAS1	80144	broad.mit.edu	37	4	79334179	79334179	+	Silent	SNP	G	G	A	rs375417798		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:79334179G>A	ENST00000325942.6	+	32	4805	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	FRAS1_ENST00000264895.6_Silent_p.A1455A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1455					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAACATCGCGATCTTACCAC	0.512																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4363-4365)gcG>gcA		Fraser syndrome 1							127.0	130.0	129.0					4																	79334179		1989	4169	6158	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79334179G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4365G>A	4.37:g.79334179G>A						FRAS1_ENST00000325942.6_Silent_p.A1455A	p.A1455A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			32	4805	+			1454					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4365G>A	CCDS54772.1																																																																																				0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			15	26	0	0	0	0.500413	0	15	26				
PRTFDC1	56952	broad.mit.edu	37	10	25160963	25160963	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:25160963T>C	ENST00000320152.6	-	4	397	c.369A>G	c.(367-369)atA>atG	p.I123M	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	123					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CGCCTCCGATTATCTGCATCT	0.448																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(367-369)atA>atG		phosphoribosyl transferase domain containing 1							266.0	230.0	242.0					10																	25160963		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25160963T>C	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.369A>G	10.37:g.25160963T>C	ENSP00000318602:p.Ile123Met					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	397	-			123					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.369A>G	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335135	0.41398	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99399	-5.83;-5.83	5.7	-5.82	0.02333	Phosphoribosyltransferase (1);	0.084250	0.85682	N	0.000000	D	0.98413	0.9472	M	0.67569	2.06	0.35688	D	0.814612	B;B	0.27286	0.074;0.174	B;B	0.37650	0.038;0.255	D	0.90394	0.4397	10	0.49607	T	0.09	.	13.9724	0.64250	0.0:0.0724:0.7253:0.2023	.	123;123	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	M	123	ENSP00000318602:I123M;ENSP00000365558:I123M	ENSP00000318602:I123M	I	-	3	3	PRTFDC1	25200969	0.820000	0.29190	0.579000	0.28588	0.878000	0.50629	-0.173000	0.09854	-1.387000	0.02095	-0.313000	0.08912	ATA		0.448	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		18	244	0	0	0	0.575678	0	18	244				
DQX1	165545	broad.mit.edu	37	2	74750442	74750442	+	Silent	SNP	G	G	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:74750442G>T	ENST00000404568.3	-	5	1258	c.1039C>A	c.(1039-1041)Cga>Aga	p.R347R	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Silent_p.R347R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	347	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R229R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCACACTTCGGAGCTCCAGT	0.547																																						ENST00000404568.3																			1	Substitution - coding silent(1)	p.R229R(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1039-1041)Cga>Aga		DEAQ box RNA-dependent ATPase 1							145.0	135.0	138.0					2																	74750442		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750442G>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1039C>A	2.37:g.74750442G>T						DQX1_ENST00000393951.2_Silent_p.R347R	p.R347R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			5	1258	-			347			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1039C>A	CCDS1949.2																																																																																				0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	216	1	0	0.150653	0.150653	0.167871	4	216				
NLRX1	79671	broad.mit.edu	37	11	119043649	119043649	+	Silent	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119043649T>C	ENST00000409109.1	+	4	767	c.180T>C	c.(178-180)gcT>gcC	p.A60A	NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	60					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TAGATAGCGCTCCCCCACCCG	0.632																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(178-180)gcT>gcC		NLR family member X1							76.0	74.0	74.0					11																	119043649		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119043649T>C	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.180T>C	11.37:g.119043649T>C						NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000525863.1_Silent_p.A60A	p.A60A			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	767	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	60					A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.180T>C	CCDS8416.1																																																																																				0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	84	0	0	0	0.115264	0	3	84				
KLHDC7A	127707	broad.mit.edu	37	1	18809360	18809360	+	Missense_Mutation	SNP	G	G	A	rs561721203		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:18809360G>A	ENST00000400664.1	+	1	1937	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	629						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCACACGGCCACGGTGCG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14328	0.001		0.0	False		,,,				2504	0.0					ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1885-1887)Gcc>Acc		kelch domain containing 7A							23.0	24.0	24.0					1																	18809360		2201	4294	6495	SO:0001583	missense	127707					integral to membrane		g.chr1:18809360G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1885G>A	1.37:g.18809360G>A	ENSP00000383505:p.Ala629Thr						p.A629T	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1937	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	629					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1885G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840772	0.91197	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.69926	-0.44	4.85	4.85	0.62838	Kelch-type beta propeller (1);	0.066842	0.64402	D	0.000015	D	0.82416	0.5032	M	0.79926	2.475	0.45227	D	0.998237	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.85511	0.1197	10	0.87932	D	0	.	16.531	0.84359	0.0:0.0:1.0:0.0	.	566;629	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	T	629;566	ENSP00000383505:A629T	ENSP00000383505:A629T	A	+	1	0	KLHDC7A	18681947	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	9.759000	0.98931	2.233000	0.73108	0.561000	0.74099	GCC		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		11	25	0	0	0	0.361761	0	11	25				
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						ENST00000396987.3																			2	Substitution - Missense(2)	p.R43H(2)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 6							143.0	134.0	137.0					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1055	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		4	110	0	0	0	0.150653	0	4	110				
BRD1	23774	broad.mit.edu	37	22	50167946	50167946	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:50167946G>A	ENST00000216267.8	-	12	3598	c.3112C>T	c.(3112-3114)Cgc>Tgc	p.R1038C	BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1038					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCATGGCGCGGTCAAAAGCG	0.577																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(3112-3114)Cgc>Tgc		bromodomain containing 1							132.0	130.0	130.0					22																	50167946		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50167946G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.3112C>T	22.37:g.50167946G>A	ENSP00000216267:p.Arg1038Cys					BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C	p.R1038C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	12	3598	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	1038					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.3112C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086445	0.36855	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.89	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.965;0.998	T	0.53767	-0.8392	10	0.38643	T	0.18	.	14.6564	0.68835	0.0:0.0:0.853:0.147	.	1169;764;1038;1169	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	C	1038;1038;1169;726;764;629	ENSP00000216267:R1038C;ENSP00000384076:R1038C;ENSP00000385858:R1169C;ENSP00000437514:R726C;ENSP00000345886:R764C	ENSP00000216267:R1038C	R	-	1	0	BRD1	48553950	1.000000	0.71417	0.962000	0.40283	0.169000	0.22640	9.458000	0.97634	1.161000	0.42604	0.655000	0.94253	CGC		0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		4	196	0	0	0	0.150653	0	4	196				
BAI3	577	broad.mit.edu	37	6	69348840	69348840	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:69348840T>A	ENST00000370598.1	+	3	1094	c.273T>A	c.(271-273)gaT>gaA	p.D91E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	91	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCAGTTTGATCATTTTTCCC	0.338																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(271-273)gaT>gaA		brain-specific angiogenesis inhibitor 3							53.0	59.0	57.0					6																	69348840		2201	4300	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348840T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.273T>A	6.37:g.69348840T>A	ENSP00000359630:p.Asp91Glu						p.D91E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1094	+		all_lung(197;0.212)	91			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.273T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776456	0.49786	.	.	ENSG00000135298	ENST00000370598	T	0.49720	0.77	5.32	2.95	0.34219	CUB (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.51741	-0.8667	10	0.87932	D	0	.	8.0539	0.30593	0.0:0.2222:0.0:0.7778	.	91	O60242	BAI3_HUMAN	E	91	ENSP00000359630:D91E	ENSP00000359630:D91E	D	+	3	2	BAI3	69405561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.687000	0.37680	0.426000	0.26116	-0.250000	0.11733	GAT		0.338	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			22	53	0	0	0	0.639603	0	22	53				
CUBNP3	100421634	broad.mit.edu	37	10	45644356	45644356	+	RNA	SNP	T	T	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:45644356T>G	ENST00000427229.2	+	0	527																											GAGTTTCGAGTGGGTGAGTTC	0.353																																						ENST00000427229.2																			0																																																			0							g.chr10:45644356T>G																													10.37:g.45644356T>G														0	527	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.353	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			10	19	0	0	0	0.361761	0	10	19				
BTBD11	121551	broad.mit.edu	37	12	108012040	108012040	+	Silent	SNP	G	G	A	rs150221761		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:108012040G>A	ENST00000280758.5	+	10	2865	c.2337G>A	c.(2335-2337)ccG>ccA	p.P779P	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.P316P|BTBD11_ENST00000490090.2_Silent_p.P779P|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	779						integral component of membrane (GO:0016021)		p.C783fs*22(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGACAGCCCCGCCCCCCTTGT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16022	0.0		0.001	False		,,,				2504	0.0					ENST00000280758.5																			1	Insertion - Frameshift(1)	p.C783fs*22(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2335-2337)ccG>ccA		BTB (POZ) domain containing 11		G	,	1,4405	2.1+/-5.4	0,1,2202	47.0	46.0	46.0		948,2337	4.0	1.0	12	dbSNP_134	46	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous,coding-synonymous	BTBD11	NM_001017523.1,NM_001018072.1	,	0,28,6475	AA,AG,GG		0.314,0.0227,0.2153	,	316/642,779/1105	108012040	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108012040G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2337G>A	12.37:g.108012040G>A						BTBD11_ENST00000490090.2_Silent_p.P779P|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Silent_p.P316P	p.P779P	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			10	2865	+			779					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2337G>A	CCDS31893.1																																																																																				0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		4	32	0	0	0	0.184627	0	4	32				
ITLN1	55600	broad.mit.edu	37	1	160849127	160849127	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:160849127T>C	ENST00000326245.3	-	7	878	c.763A>G	c.(763-765)Agg>Ggg	p.R255G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	255	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGGTGACCCTCATTCCAGCA	0.502																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(763-765)Agg>Ggg		intelectin 1 (galactofuranose binding)							177.0	142.0	154.0					1																	160849127		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160849127T>C	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.763A>G	1.37:g.160849127T>C	ENSP00000323587:p.Arg255Gly					ITLN1_ENST00000487531.1_5'UTR	p.R255G	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	878	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		255			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.763A>G	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996172	0.35226	.	.	ENSG00000179914	ENST00000326245	T	0.17691	2.26	3.96	2.75	0.32379	.	0.395319	0.20949	N	0.082792	T	0.16300	0.0392	M	0.80616	2.505	0.09310	N	1	P	0.43633	0.813	P	0.48227	0.571	T	0.01874	-1.1256	10	0.87932	D	0	-3.5194	8.7386	0.34543	0.0:0.0:0.1899:0.8101	.	255	Q8WWA0	ITLN1_HUMAN	G	255	ENSP00000323587:R255G	ENSP00000323587:R255G	R	-	1	2	ITLN1	159115751	0.085000	0.21516	0.020000	0.16555	0.641000	0.38312	3.234000	0.51320	1.640000	0.50565	0.533000	0.62120	AGG		0.502	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		3	129	0	0	0	0.150653	0	3	129				
CPOX	1371	broad.mit.edu	37	3	98312096	98312096	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:98312096A>C	ENST00000264193.2	-	1	471	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	85					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.L85V(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AGCCCCACCAACCCCGCCAGC	0.761																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			1	Substitution - Missense(1)	p.L85V(1)	skin(1)	endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(253-255)Ttg>Gtg		coproporphyrinogen oxidase							3.0	5.0	4.0					3																	98312096		1565	3254	4819	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98312096A>C	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.253T>G	3.37:g.98312096A>C	ENSP00000264193:p.Leu85Val						p.L85V	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			1	471	-			85					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.253T>G	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	A	4.846	0.157225	0.09236	.	.	ENSG00000080819	ENST00000264193	D	0.94092	-3.35	3.91	-3.79	0.04320	.	0.403660	0.24564	N	0.037455	T	0.82235	0.4993	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.67975	-0.5531	10	0.25106	T	0.35	-3.9861	1.3376	0.02148	0.1369:0.2827:0.1577:0.4227	.	85;85	B4DSD5;P36551	.;HEM6_HUMAN	V	85	ENSP00000264193:L85V	ENSP00000264193:L85V	L	-	1	2	CPOX	99794786	0.001000	0.12720	0.000000	0.03702	0.248000	0.25809	0.392000	0.20801	-0.903000	0.03881	-0.389000	0.06534	TTG		0.761	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		6	10	0	0	0	0.278610	0	6	10				
RBFOX1	54715	broad.mit.edu	37	16	7759095	7759095	+	Missense_Mutation	SNP	G	G	A	rs150941982	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr16:7759095G>A	ENST00000550418.1	+	15	2021	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	RBFOX1_ENST00000311745.5_Missense_Mutation_p.A366T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A388T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A366T|RBFOX1_ENST00000535565.2_Silent_p.T319T|RBFOX1_ENST00000355637.4_Silent_p.T383T|RBFOX1_ENST00000547372.1_Silent_p.T405T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A345T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A318T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A350T|RBFOX1_ENST00000552089.1_Silent_p.T379T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	345					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTACCACCACGCACTTGCTCC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19342	0.0		0.0	False		,,,				2504	0.0				Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(1048-1050)Gca>Aca		RNA binding protein, fox-1 homolog (C. elegans) 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,	2,4392	4.2+/-10.8	0,2,2195	178.0	159.0	166.0		952,1033,1033,1096,1096,1149	3.4	1.0	16	dbSNP_134	166	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,coding-synonymous	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	58,58,58,58,58,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	benign,benign,benign,benign,benign,	318/371,345/398,345/398,366/419,366/393,383/396	7759095	2,12992	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7759095G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1033G>A	16.37:g.7759095G>A	ENSP00000450031:p.Ala345Thr					RBFOX1_ENST00000422070.4_Missense_Mutation_p.A388T|RBFOX1_ENST00000355637.4_Silent_p.T383T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A366T|RBFOX1_ENST00000535565.2_Silent_p.T319T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A366T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A318T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A345T|RBFOX1_ENST00000552089.1_Silent_p.T379T|RBFOX1_ENST00000547372.1_Silent_p.T405T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A345T	p.A350T			Q9NWB1	RFOX1_HUMAN			12	1345	+			345					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.1048G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	2.984	-0.209696	0.06140	4.55E-4	0.0	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000422070;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T	0.34275	1.42;1.66;1.61;1.42;1.37;1.76;1.38	5.66	3.41	0.39046	.	0.231431	0.43416	N	0.000580	T	0.18045	0.0433	N	0.11427	0.14	0.29298	N	0.868915	B;B;B;B;B;B	0.17038	0.002;0.02;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.003;0.001;0.002;0.002;0.001	T	0.18398	-1.0338	10	0.11794	T	0.64	-1.666	11.868	0.52505	0.9214:0.0:0.0786:0.0	.	339;388;366;366;318;345	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.;.;.;.;RFOX1_HUMAN	T	345;318;388;345;366;366;339;350	ENSP00000450031:A345T;ENSP00000447753:A318T;ENSP00000391269:A388T;ENSP00000447717:A345T;ENSP00000402745:A366T;ENSP00000309117:A366T;ENSP00000344196:A350T	ENSP00000309117:A366T	A	+	1	0	RBFOX1	7699096	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.362000	0.44169	0.386000	0.24997	-0.244000	0.11960	GCA		0.502	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		44	82	0	0	0	0.870114	0	44	82				
C10orf105	414152	broad.mit.edu	37	10	73491778	73491778	+	Intron	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:73491778G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.S1255S	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCATCCTGTCGGGCGCAGAGG	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3763-3765)tcG>tcA		cadherin-related 23							61.0	66.0	65.0					10																	73491778		2084	4205	6289	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491778G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5706C>T	10.37:g.73491778G>A						C10orf105_ENST00000398786.2_Intron	p.S1255S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	3770	+			1250			Cadherin 12.			Silent	SNP	ENST00000398786.2	37	c.3765G>A	CCDS44430.1																																																																																				0.552	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		4	28	0	0	0	0.150653	0	4	28				
APBA2	321	broad.mit.edu	37	15	29346408	29346408	+	Silent	SNP	C	C	T	rs369962967		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:29346408C>T	ENST00000558402.1	+	5	920	c.321C>T	c.(319-321)gaC>gaT	p.D107D	APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000561069.1_Silent_p.D107D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	107					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCTGAGGACGACAGCTACC	0.602																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(319-321)gaC>gaT		amyloid beta (A4) precursor protein-binding, family A, member 2		C	,	1,4405	2.1+/-5.4	0,1,2202	144.0	120.0	129.0		321,321	-2.8	1.0	15		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	107/738,107/750	29346408	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346408C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.321C>T	15.37:g.29346408C>T						APBA2_ENST00000561069.1_Silent_p.D107D|APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D	p.D107D			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	920	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	107					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.321C>T	CCDS10022.1																																																																																				0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	154	0	0	0	0.184627	0	5	154				
MFSD5	84975	broad.mit.edu	37	12	53646693	53646693	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:53646693G>C	ENST00000329548.4	+	2	265	c.74G>C	c.(73-75)cGg>cCg	p.R25P	MFSD5_ENST00000534842.1_Missense_Mutation_p.R132P	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	25					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAAGATGCCGGGCTAAACCC	0.597																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(394-396)cGg>cCg		major facilitator superfamily domain containing 5							87.0	94.0	92.0					12																	53646693		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53646693G>C	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.74G>C	12.37:g.53646693G>C	ENSP00000332624:p.Arg25Pro					MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P	p.R132P	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	542	+			25					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.395G>C	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992271	0.54041	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.3	1.46	0.22682	.	0.138269	0.48767	D	0.000165	T	0.61160	0.2325	L	0.59436	1.845	0.35772	D	0.820997	D;D	0.76494	0.989;0.999	D;D	0.66716	0.929;0.946	T	0.64546	-0.6382	9	0.49607	T	0.09	-2.3377	7.4477	0.27221	0.3641:0.0:0.6359:0.0	.	25;132	Q6N075;G3V1N7	MFSD5_HUMAN;.	P	132;132;132;25	.	ENSP00000331231:R132P	R	+	2	0	MFSD5	51932960	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.548000	0.36201	0.126000	0.18424	0.561000	0.74099	CGG		0.597	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		25	120	0	0	0	0.639603	0	25	120				
ABCC3	8714	broad.mit.edu	37	17	48761112	48761112	+	Missense_Mutation	SNP	G	G	C	rs191359602	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr17:48761112G>C	ENST00000285238.8	+	27	4029	c.3949G>C	c.(3949-3951)Gag>Cag	p.E1317Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1317	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCACGGTGGCGAGAAGGTACG	0.622																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3949-3951)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						123.0	116.0	118.0					17																	48761112		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761112G>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3949G>C	17.37:g.48761112G>C	ENSP00000285238:p.Glu1317Gln						p.E1317Q	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		27	4029	+			1317			ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3949G>C	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.668941	0.88348	.	.	ENSG00000108846	ENST00000285238	D	0.94687	-3.49	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96008	0.8999	10	0.62326	D	0.03	-35.4308	20.0459	0.97607	0.0:0.0:1.0:0.0	.	1317	O15438	MRP3_HUMAN	Q	1317	ENSP00000285238:E1317Q	ENSP00000285238:E1317Q	E	+	1	0	ABCC3	46116111	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	9.790000	0.99075	2.751000	0.94390	0.651000	0.88453	GAG		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		37	94	0	0	0	0.804634	0	37	94				
SEMA5A	9037	broad.mit.edu	37	5	9066709	9066709	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:9066709G>A	ENST00000382496.5	-	17	2788	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	708	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCAGGGCGTGGTCTTCTT	0.552																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2122-2124)aCg>aTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							167.0	154.0	158.0					5																	9066709		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066709G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2123C>T	5.37:g.9066709G>A	ENSP00000371936:p.Thr708Met						p.T708M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			17	2788	-			708			TSP type-1 4.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2123C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018805	0.93404	.	.	ENSG00000112902	ENST00000382496	T	0.37915	1.17	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.54794	-0.8240	10	0.87932	D	0	.	17.2904	0.87154	0.0:0.0:1.0:0.0	.	708	Q13591	SEM5A_HUMAN	M	708	ENSP00000371936:T708M	ENSP00000371936:T708M	T	-	2	0	SEMA5A	9119709	1.000000	0.71417	0.963000	0.40424	0.892000	0.51952	9.468000	0.97676	2.761000	0.94854	0.591000	0.81541	ACG		0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			35	88	0	0	0	0.788014	0	35	88				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		3	41	0	0	0	0.115264	0	3	41				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	41	0	0	0	0.278610	0	7	41				
MAPKAP1	79109	broad.mit.edu	37	9	128321994	128321994	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr9:128321994T>G	ENST00000373498.1	-	5	834	c.766A>C	c.(766-768)Aag>Cag	p.K256Q	MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	256	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AAGCCAAACTTATGAATGGGC	0.473																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(766-768)Aag>Cag		mitogen-activated protein kinase associated protein 1							95.0	82.0	86.0					9																	128321994		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128321994T>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.766A>C	9.37:g.128321994T>G	ENSP00000362597:p.Lys256Gln					MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q	p.K256Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			6	1098	-			256					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.766A>C	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	33	5.241171	0.95272	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.93	5.93	0.95920	.	0.137101	0.64402	D	0.000003	T	0.75561	0.3866	M	0.66506	2.035	0.80722	D	1	D;P;P;P;D	0.63046	0.992;0.956;0.829;0.673;0.977	P;P;P;B;P	0.60541	0.77;0.656;0.676;0.296;0.876	T	0.77197	-0.2676	9	0.56958	D	0.05	-0.7949	16.3943	0.83563	0.0:0.0:0.0:1.0	.	256;256;256;256;256	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	Q	256;256;64;256;256;64;64;256;64	.	ENSP00000265960:K256Q	K	-	1	0	MAPKAP1	127361815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	AAG		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			19	60	0	0	0	0.557998	0	19	60				
MYLK	4638	broad.mit.edu	37	3	123419029	123419029	+	Missense_Mutation	SNP	T	T	C	rs200287208		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:123419029T>C	ENST00000475616.1	-	15	3285	c.3286A>G	c.(3286-3288)Aca>Gca	p.T1096A	MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A			Q15746	MYLK_HUMAN	myosin light chain kinase	1096	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGGGGCTGTCCCCTGGCTC	0.517																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3286-3288)Aca>Gca		myosin light chain kinase							129.0	131.0	130.0					3																	123419029		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419029T>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3286A>G	3.37:g.123419029T>C	ENSP00000418335:p.Thr1096Ala					MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A	p.T1096A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3664	-		Lung NSC(201;0.0496)	1096			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3286A>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	7.893	0.732733	0.15507	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66280	-0.2;-0.15;-0.2;-0.12;-0.15	5.76	-2.75	0.05914	Immunoglobulin-like fold (1);	.	.	.	.	T	0.45094	0.1325	L	0.50333	1.59	0.09310	N	0.999993	B;B;B;B;B;B	0.11235	0.004;0.003;0.003;0.004;0.004;0.003	B;B;B;B;B;B	0.14578	0.011;0.004;0.005;0.011;0.003;0.005	T	0.32929	-0.9888	9	0.26408	T	0.33	.	0.2196	0.00166	0.2266:0.1958:0.2227:0.3549	.	1096;174;1027;1096;1027;1096	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	A	1096;1096;1096;1027;1096	ENSP00000354004:T1096A;ENSP00000353452:T1096A;ENSP00000352088:T1096A;ENSP00000320622:T1027A;ENSP00000418335:T1096A	ENSP00000320622:T1027A	T	-	1	0	MYLK	124901719	0.000000	0.05858	0.500000	0.27589	0.371000	0.29859	0.001000	0.13038	-0.452000	0.07087	0.454000	0.30748	ACA		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		3	143	0	0	0	0.115264	0	3	143				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	43	0	0	0	0.361761	0	4	43				
PVRL1	5818	broad.mit.edu	37	11	119548471	119548471	+	Missense_Mutation	SNP	T	T	C	rs367791177		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119548471T>C	ENST00000264025.3	-	3	1057	c.527A>G	c.(526-528)aAt>aGt	p.N176S	PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	176	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGGCTTCCCATTGGCTGAGGT	0.577																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(526-528)aAt>aGt		poliovirus receptor-related 1 (herpesvirus entry mediator C)			SER/ASN,SER/ASN,SER/ASN	0,4398		0,0,2199	102.0	88.0	92.0		527,527,527	5.3	1.0	11		92	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense,missense	PVRL1	NM_002855.4,NM_203285.1,NM_203286.1	46,46,46	0,2,6492	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	176/518,176/459,176/353	119548471	2,12986	2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548471T>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.527A>G	11.37:g.119548471T>C	ENSP00000264025:p.Asn176Ser					PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S	p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	1057	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	176			Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.527A>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.130883	0.77549	0.0	2.33E-4	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	D;D;D	0.85629	-2.01;-2.01;-2.01	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.68593	2.085	0.54753	D	0.999987	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.77004	0.967;0.989;0.931	D	0.90725	0.4638	9	.	.	.	.	14.4542	0.67407	0.0:0.0:0.0:1.0	.	176;176;176	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	S	176	ENSP00000344974:N176S;ENSP00000264025:N176S;ENSP00000345289:N176S	.	N	-	2	0	PVRL1	119053681	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	7.692000	0.84203	2.030000	0.59900	0.454000	0.30748	AAT		0.577	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			20	21	0	0	0	0.624587	0	20	21				
CHL1	10752	broad.mit.edu	37	3	439982	439982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:439982G>T	ENST00000256509.2	+	25	3809	c.3167G>T	c.(3166-3168)gGa>gTa	p.G1056V	CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTGAGCCGGGAGCTGAACAT	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3166-3168)gGa>gTa		cell adhesion molecule L1-like							76.0	75.0	75.0					3																	439982		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439982G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3167G>T	3.37:g.439982G>T	ENSP00000256509:p.Gly1056Val					CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	p.G1056V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3809	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1040					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3167G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049396	0.55218	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.65178	-0.14;-0.12	5.72	4.66	0.58398	.	0.187617	0.45606	D	0.000351	T	0.63094	0.2482	L	0.29908	0.895	0.80722	D	1	B;D	0.58970	0.228;0.984	B;P	0.56700	0.146;0.804	T	0.63457	-0.6633	10	0.48119	T	0.1	.	13.8594	0.63550	0.083:0.0:0.917:0.0	.	1040;1056	O00533;O00533-2	CHL1_HUMAN;.	V	1056;1040	ENSP00000256509:G1056V;ENSP00000380628:G1040V	ENSP00000256509:G1056V	G	+	2	0	CHL1	414982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.562000	0.53777	2.711000	0.92665	0.650000	0.86243	GGA		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	63	1	0	0.0215528	0.217242	0.0247223	6	63				
PSMA2	5683	broad.mit.edu	37	7	42957400	42957400	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr7:42957400G>C	ENST00000223321.4	-	7	629	c.565C>G	c.(565-567)Cat>Gat	p.H189D	PSMA2_ENST00000442788.1_Missense_Mutation_p.H189D|PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGGCTGTATGAATGGCATCT	0.279																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(565-567)Cat>Gat		proteasome (prosome, macropain) subunit, alpha type, 2							84.0	87.0	86.0					7																	42957400		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957400G>C	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.565C>G	7.37:g.42957400G>C	ENSP00000223321:p.His189Asp					PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D	p.H189D			P25787	PSA2_HUMAN			7	580	-			189					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.565C>G	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740236	0.89573	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.20463	2.07;2.07	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33033	-0.9884	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	189	P25787	PSA2_HUMAN	D	189;119	ENSP00000223321:H189D;ENSP00000404858:H119D	ENSP00000223321:H189D	H	-	1	0	PSMA2	42923925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CAT		0.279	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		10	36	0	0	0	0.479597	0	10	36				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	57	0	0	0	0.184627	0	4	57				
RYR3	6263	broad.mit.edu	37	15	33938650	33938650	+	Silent	SNP	C	C	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:33938650C>T	ENST00000389232.4	+	29	3934	c.3864C>T	c.(3862-3864)tgC>tgT	p.C1288C	RYR3_ENST00000415757.3_Silent_p.C1288C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1288	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATCTATTGCCGCTTGAGCA	0.537																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3862-3864)tgC>tgT		ryanodine receptor 3							186.0	190.0	189.0					15																	33938650		2124	4249	6373	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33938650C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3864C>T	15.37:g.33938650C>T						RYR3_ENST00000415757.3_Silent_p.C1288C	p.C1288C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	29	3934	+		all_lung(180;7.18e-09)	1288			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3864C>T	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	175	0	0	0	0.150653	0	4	175				
PIWIL3	440822	broad.mit.edu	37	22	25155922	25155922	+	Missense_Mutation	SNP	C	C	T	rs138064276		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:25155922C>T	ENST00000332271.5	-	3	553	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	46					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGCAGCGGCCGGGGTGTCGA	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18472	0.0		0.0	False		,,,				2504	0.0					ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(136-138)cGg>cAg		piwi-like RNA-mediated gene silencing 3		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	186.0	193.0	191.0		137	-1.0	0.0	22	dbSNP_134	191	0,8600		0,0,4300	yes	missense	PIWIL3	NM_001008496.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	46/883	25155922	2,13004	2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25155922C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.137G>A	22.37:g.25155922C>T	ENSP00000330031:p.Arg46Gln					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	p.R46Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			3	553	-			46						Missense_Mutation	SNP	ENST00000332271.5	37	c.137G>A	CCDS33623.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.661	0.490561	0.12702	4.54E-4	0.0	ENSG00000184571	ENST00000332271	T	0.04454	3.62	2.52	-0.992	0.10232	.	3.875600	0.01013	N	0.003865	T	0.03136	0.0092	N	0.13098	0.295	0.09310	N	0.999997	B;B	0.17038	0.01;0.02	B;B	0.08055	0.001;0.003	T	0.39840	-0.9594	10	0.10111	T	0.7	2.0542	5.9161	0.19055	0.0:0.469:0.0:0.531	.	46;46	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	Q	46	ENSP00000330031:R46Q	ENSP00000330031:R46Q	R	-	2	0	PIWIL3	23485922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.014000	0.03641	-0.321000	0.08627	-0.768000	0.03414	CGG		0.547	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		116	250	0	0	0	0.870114	0	116	250				
PFKFB1	5207	broad.mit.edu	37	X	54989709	54989709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chrX:54989709C>T	ENST00000375006.3	-	2	274	c.204G>A	c.(202-204)tgG>tgA	p.W68*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	68	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTTCCTATCCAGTTGAGAT	0.453																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(202-204)tgG>tgA		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							242.0	196.0	212.0					X																	54989709		2203	4300	6503	SO:0001587	stop_gained	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54989709C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.204G>A	X.37:g.54989709C>T	ENSP00000364145:p.Trp68*					PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*	p.W68*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			2	274	-			68			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.204G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906905	0.97093	.	.	ENSG00000158571	ENST00000375006;ENST00000374992	.	.	.	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.1157	12.4111	0.55468	0.0:0.9148:0.0:0.0852	.	.	.	.	X	68	.	ENSP00000364131:W68X	W	-	3	0	PFKFB1	55006434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.636000	0.67848	1.209000	0.43321	0.600000	0.82982	TGG		0.453	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			58	51	0	0	0	0.870114	0	58	51				
DOCK7	85440	broad.mit.edu	37	1	63099200	63099216	+	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TATGGTTCTGCACACTC	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:63099200_63099216delTATGGTTCTGCACACTC	ENST00000340370.5	-	10	1086_1102	c.1069_1085delGAGTGTGCAGAACCATA	c.(1069-1086)gagtgtgcagaaccatatfs	p.ECAEPY357fs	DOCK7_ENST00000251157.5_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	357					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT	0.364																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1069-1086)tfs		dedicator of cytokinesis 7																																				SO:0001589	frameshift_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63099200_63099216delTATGGTTCTGCACACTC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1069_1085delGAGTGTGCAGAACCATA	1.37:g.63099200_63099216delTATGGTTCTGCACACTC	ENSP00000340742:p.Glu357fs					DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs	p.ECAEPY357fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			10	1102_1118	-			357					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Frame_Shift_Del	DEL	ENST00000340370.5	37	c.1069_1085delGAGTGTGCAGAACCATA	CCDS30734.1																																																																																				0.364	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	186						13	186	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	71						9	71	---	---	---	---
C1orf95	375057	broad.mit.edu	37	1	226736634	226736636	+	In_Frame_Del	DEL	CGG	CGG	-	rs546139392	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:226736634_226736636delCGG	ENST00000366788.3	+	1	134_136	c.29_31delCGG	c.(28-33)acggcg>acg	p.A16del	C1orf95_ENST00000366789.4_In_Frame_Del_p.A16del	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	16						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GACGCCGAGAcggcggcggcggc	0.783																																						ENST00000366788.3																			0				large_intestine(1)|lung(4)|ovary(3)	8						c.(28-33)acg>a		chromosome 1 open reading frame 95				8,298		3,2,148						3.0	1.0			2	59,1425		26,7,709	no	coding	C1orf95	NM_001003665.3		29,9,857	A1A1,A1R,RR		3.9757,2.6144,3.743				67,1723				SO:0001651	inframe_deletion	375057					integral to membrane		g.chr1:226736634_226736636delCGG	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.29_31delCGG	1.37:g.226736643_226736645delCGG	ENSP00000355752:p.Ala16del					C1orf95_ENST00000366789.4_In_Frame_Del_p.TA10del	p.TA10del	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	1	134_136	+	Breast(184;0.133)	Prostate(94;0.0885)	10					A6NGL2	In_Frame_Del	DEL	ENST00000366788.3	37	c.29_31delCGG	CCDS31044.1																																																																																				0.783	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		4	6						4	6	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67631946	67631946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:67631946delA	ENST00000272342.5	+	5	2262	c.2132delA	c.(2131-2133)caafs	p.Q711fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	711						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATAGCTCACAAATAGATAAG	0.348																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2131-2133)cafs		Ewing tumor-associated antigen 1							72.0	74.0	73.0					2																	67631946		2201	4300	6501	SO:0001589	frameshift_variant	54465					cytoplasm|nucleus		g.chr2:67631946delA	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2132delA	2.37:g.67631946delA	ENSP00000272342:p.Gln711fs					ETAA1_ENST00000462772.1_Intron	p.Q711fs	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2262	+			711					Q05BT7|Q53SC4	Frame_Shift_Del	DEL	ENST00000272342.5	37	c.2132delA	CCDS1882.1																																																																																				0.348	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		16	86						16	86	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98110515	98110515	+	IGR	DEL	A	A	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:98110515delA	ENST00000383695.1	+	0	966				RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGGCAGTTTACAAGGCCACT	0.279																																						ENST00000508616.1																			0																				34.0	39.0	38.0					3																	98110515		1952	3960	5912	SO:0001628	intergenic_variant	0							g.chr3:98110515delA		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077		3.37:g.98110515delA														0	188	+									RNA	DEL	ENST00000383695.1	37		CCDS33803.1																																																																																				0.279	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			8	24						8	24	---	---	---	---
RYK	6259	broad.mit.edu	37	3	133896849	133896850	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:133896849_133896850delAT	ENST00000427044.2	-	12	1283_1284	c.673_674delAT	c.(673-675)atgfs	p.M225fs	RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	411					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CCCCCAATTCATGTAAGGCAAT	0.337																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(673-675)gfs		receptor-like tyrosine kinase																																				SO:0001589	frameshift_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133896849_133896850delAT	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.673_674delAT	3.37:g.133896849_133896850delAT	ENSP00000399527:p.Met225fs					RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs	p.M225fs			P34925	RYK_HUMAN			12	1283_1284	-			411					Q04696	Frame_Shift_Del	DEL	ENST00000427044.2	37	c.673_674delAT																																																																																					0.337	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		13	32						13	32	---	---	---	---
