#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
MRGPRX1	259249	broad.mit.edu	37	11	18956323	18956323	+	Silent	SNP	T	T	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:18956323T>A	ENST00000302797.3	-	1	233	c.9A>T	c.(7-9)ccA>ccT	p.P3P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	3					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGATGGTTGGATCCATGC	0.517																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(7-9)ccA>ccT		MAS-related GPR, member X1							255.0	243.0	247.0					11																	18956323		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956323T>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.9A>T	11.37:g.18956323T>A						MRGPRX1_ENST00000526914.1_5'UTR	p.P3P	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	233	-			3					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.9A>T	CCDS7846.1																																																																																				0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		60	114	0	0	0	0.014410	0	60	114				
ADAM12	8038	broad.mit.edu	37	10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr10:127737869G>A	ENST00000368679.4	-	16	2188	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	627	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1879-1881)Ccg>Tcg		ADAM metallopeptidase domain 12							183.0	187.0	185.0					10																	127737869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1879C>T	10.37:g.127737869G>A	ENSP00000357668:p.Pro627Ser					ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2188	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	627			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1879C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104243	0.76983	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.42008	1.315	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	T	0.03534	-1.1027	10	0.14252	T	0.57	.	18.2825	0.90103	0.0:0.0:1.0:0.0	.	624;624;627;624;627	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	627	ENSP00000357668:P627S;ENSP00000357665:P627S	ENSP00000357665:P627S	P	-	1	0	ADAM12	127727859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.548000	0.85928	0.655000	0.94253	CCG		0.527	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	239	0	0	0	0.014758	0	5	239				
RBM7	10179	broad.mit.edu	37	11	114271421	114271421	+	Missense_Mutation	SNP	C	C	T	rs376690569		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:114271421C>T	ENST00000540163.1	+	1	670	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C|RBM7_ENST00000541475.1_Missense_Mutation_p.R10C|C11orf71_ENST00000325636.4_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15355	0.0		0.0	False		,,,				2504	0.001					ENST00000541475.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(28-30)Cgc>Tgc		RNA binding motif protein 7		C	CYS/ARG	0,4402		0,0,2201	52.0	56.0	55.0		28	3.9	0.4	11		55	1,8591	1.2+/-3.3	0,1,4295	no	missense	RBM7	NM_016090.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	10/267	114271421	1,12993	2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114271421C>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.28C>T	11.37:g.114271421C>T	ENSP00000439918:p.Arg10Cys					RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|RBM7_ENST00000540163.1_Missense_Mutation_p.R10C|RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C	p.R10C			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	1	93	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	10			RRM.		B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.28C>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012317	0.54468	0.0	1.16E-4	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.8	3.94	0.45596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.227351	0.46758	N	0.000268	T	0.65165	0.2665	L	0.56340	1.77	0.80722	D	1	B;P	0.37061	0.293;0.58	B;B	0.27715	0.057;0.082	T	0.66276	-0.5964	10	0.87932	D	0	-3.2611	11.1642	0.48533	0.0:0.8512:0.0:0.1488	.	10;10	Q6IRX3;Q9Y580	.;RBM7_HUMAN	C	10	ENSP00000439918:R10C;ENSP00000364639:R10C;ENSP00000440949:R10C;ENSP00000440923:R10C	ENSP00000364639:R10C	R	+	1	0	RBM7	113776631	1.000000	0.71417	0.366000	0.25914	0.267000	0.26476	2.396000	0.44468	0.811000	0.34303	0.655000	0.94253	CGC		0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		23	51	0	0	0	0.021523	0	23	51				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	103	1	0	4.33383e-22	0.014410	7.36752e-22	55	103				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	36	0	0	0	0.021553	0	5	36				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	136	0	0	0	0.004672	0	3	136				
LOC728323	728323	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs202109001		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061143A>G																													2.37:g.243061143A>G														0	491	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			4	74	0	0	0	0.009096	0	4	74				
SIPA1L1	26037	broad.mit.edu	37	14	72202102	72202102	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr14:72202102A>G	ENST00000555818.1	+	20	5528	c.5180A>G	c.(5179-5181)tAc>tGc	p.Y1727C	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1727					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAAGCCTTACAGCAGGTTG	0.542																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(5179-5181)tAc>tGc		signal-induced proliferation-associated 1 like 1							114.0	100.0	105.0					14																	72202102		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72202102A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5180A>G	14.37:g.72202102A>G	ENSP00000450832:p.Tyr1727Cys					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C	p.Y1727C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	20	5528	+			1727					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5180A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.985068	0.35036	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.15	3.99	0.46301	.	0.274240	0.39985	N	0.001214	T	0.43456	0.1248	L	0.36672	1.1	0.28891	N	0.893857	D;D;D;D;D	0.89917	0.999;0.999;0.982;0.991;1.0	P;D;P;P;D	0.83275	0.871;0.996;0.885;0.838;0.995	T	0.35649	-0.9780	10	0.39692	T	0.17	-15.8791	12.4729	0.55797	0.8733:0.0:0.0:0.1267	.	1181;1727;1181;1706;1727	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	C	1706;1727;1706;1181	ENSP00000370630:Y1706C;ENSP00000450832:Y1727C;ENSP00000351352:Y1706C;ENSP00000440682:Y1181C	ENSP00000351352:Y1727C	Y	+	2	0	SIPA1L1	71271855	1.000000	0.71417	0.524000	0.27887	0.659000	0.38960	4.095000	0.57728	0.363000	0.24346	-1.426000	0.01102	TAC		0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	79	0	0	0	0.004482	0	9	79				
FRAS1	80144	broad.mit.edu	37	4	79360116	79360116	+	Silent	SNP	C	C	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr4:79360116C>G	ENST00000325942.6	+	40	5867	c.5427C>G	c.(5425-5427)gtC>gtG	p.V1809V	FRAS1_ENST00000264895.6_Silent_p.V1809V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1809					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						ATTTCTCTGTCTCTGACATGG	0.378																																						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.(5425-5427)gtC>gtG		Fraser syndrome 1							185.0	187.0	186.0					4																	79360116		1904	4113	6017	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360116C>G	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.5427C>G	4.37:g.79360116C>G						FRAS1_ENST00000325942.6_Silent_p.V1809V	p.V1809V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			40	5867	+			1808					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.5427C>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949887	0.18431	.	.	ENSG00000138759	ENST00000510944;ENST00000512123	.	.	.	5.92	3.22	0.36961	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30765	-0.9967	4	.	.	.	.	3.541	0.07811	0.1155:0.3008:0.414:0.1697	.	.	.	.	V	259;38	.	.	L	+	1	0	FRAS1	79579140	0.510000	0.26171	1.000000	0.80357	0.997000	0.91878	-0.013000	0.12678	0.362000	0.24319	0.585000	0.79938	CTC		0.378	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			52	94	0	0	0	0.014410	0	52	94				
POLR1B	84172	broad.mit.edu	37	2	113332950	113332950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr2:113332950C>T	ENST00000263331.5	+	15	3632	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1018					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACTGGAGCCCGAGACAGAGT	0.488																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3052-3054)Cga>Tga		polymerase (RNA) I polypeptide B, 128kDa							84.0	91.0	89.0					2																	113332950		2203	4300	6503	SO:0001587	stop_gained	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332950C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3052C>T	2.37:g.113332950C>T	ENSP00000263331:p.Arg1018*					POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807*	p.R1018*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3632	+			1018					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Nonsense_Mutation	SNP	ENST00000263331.5	37	c.3052C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512561	0.98329	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	.	.	.	5.59	1.59	0.23543	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-27.8075	13.761	0.62966	0.6138:0.3862:0.0:0.0	.	.	.	.	X	1018;1056;835;807;962;377	.	ENSP00000263331:R1018X	R	+	1	2	POLR1B	113049421	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.319000	0.43788	0.398000	0.25338	-0.457000	0.05445	CGA		0.488	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		25	48	0	0	0	0.016522	0	25	48				
SPRYD4	283377	broad.mit.edu	37	12	56862411	56862411	+	Silent	SNP	C	C	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr12:56862411C>T	ENST00000338146.5	+	1	111	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	12	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TGCGCTTGTGCCGCTGGGGAG	0.567																																						ENST00000338146.5																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(34-36)tgC>tgT		SPRY domain containing 4							136.0	125.0	129.0					12																	56862411		2203	4300	6503	SO:0001819	synonymous_variant	283377					nucleus		g.chr12:56862411C>T	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.36C>T	12.37:g.56862411C>T						MIP_ENST00000555551.1_Intron	p.C12C	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN			1	111	+			12			B30.2/SPRY.		A8K7A5	Silent	SNP	ENST00000338146.5	37	c.36C>T	CCDS8920.1																																																																																				0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		4	112	0	0	0	0.014758	0	4	112				
YEATS2	55689	broad.mit.edu	37	3	183472085	183472085	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:183472085A>G	ENST00000305135.5	+	11	1517	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	441					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAAAGTCAGGTTCCTAAT	0.448																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1321-1323)cAg>cGg		YEATS domain containing 2							113.0	106.0	108.0					3																	183472085		1910	4129	6039	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183472085A>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1322A>G	3.37:g.183472085A>G	ENSP00000306983:p.Gln441Arg						p.Q441R	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1517	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		441					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1322A>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650615	0.47362	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29917	1.55	5.81	5.81	0.92471	.	0.070129	0.64402	D	0.000019	T	0.22589	0.0545	L	0.34521	1.04	0.53688	D	0.999971	B	0.12630	0.006	B	0.09377	0.004	T	0.07849	-1.0751	10	0.20519	T	0.43	-13.0499	11.2447	0.48990	0.9292:0.0:0.0708:0.0	.	441	Q9ULM3	YETS2_HUMAN	R	441	ENSP00000306983:Q441R	ENSP00000306983:Q441R	Q	+	2	0	YEATS2	184954779	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.233000	0.72320	2.221000	0.72209	0.455000	0.32223	CAG		0.448	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	61	0	0	0	0.009096	0	3	61				
DNM1P46	196968	broad.mit.edu	37	15	100340438	100340438	+	RNA	SNP	C	C	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr15:100340438C>T	ENST00000341853.1	-	0	488					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GACAGCAGCTCCGAGAAGATG	0.622																																						ENST00000341853.1																			0																				19.0	18.0	18.0					15																	100340438		1481	3300	4781			0							g.chr15:100340438C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340438C>T								NR_003260.1						0	488	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.622	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		6	10	0	0	0	0.021553	0	6	10				
CELSR3	1951	broad.mit.edu	37	3	48699285	48699285	+	Silent	SNP	T	T	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:48699285T>G	ENST00000164024.4	-	1	1063	c.783A>C	c.(781-783)gcA>gcC	p.A261A	CELSR3_ENST00000544264.1_Silent_p.A261A|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	261					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTCGCGGGGTGCTGAACCTG	0.726																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(781-783)gcA>gcC		cadherin, EGF LAG seven-pass G-type receptor 3							23.0	29.0	27.0					3																	48699285		2189	4274	6463	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699285T>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.783A>C	3.37:g.48699285T>G						CELSR3_ENST00000164024.4_Silent_p.A261A	p.A261A			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1063	-			261					O75092	Silent	SNP	ENST00000164024.4	37	c.783A>C	CCDS2775.1																																																																																				0.726	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	52	0	0	0	0.013537	0	7	52				
FRG1B	284802	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	FRG1B_ENST00000358464.4_Splice_Site_p.E180K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e9-1																																						SO:0001630	splice_region_variant	0							g.chr20:29633899G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.537-1G>A	20.37:g.29633899G>A						FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice	p.E180_splice							9	918	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.536_splice		.	.	.	.	.	.	.	.	.	.	g	9.008	0.981734	0.18812	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.23758	N	0.996927	.	.	.	.	.	.	T	0.39231	-0.9624	5	0.72032	D	0.01	.	9.2539	0.37571	0.0:0.0:1.0:0.0	.	.	.	.	K	180	.	ENSP00000278882:E180K	E	+	1	0	FRG1B	28247560	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.782000	0.85680	1.206000	0.43276	0.502000	0.49764	GAA		0.269	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Missense_Mutation	3	59	0	0	0	0.029380	0	3	59				
ZNF480	147657	broad.mit.edu	37	19	52817523	52817523	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr19:52817523G>T	ENST00000595962.1	+	3	256	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAGGAACCTGGTCTCCCTGGG	0.542																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(190-192)Gtc>Ttc		zinc finger protein 480							112.0	104.0	107.0					19																	52817523		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817523G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.190G>T	19.37:g.52817523G>T	ENSP00000471754:p.Val64Phe					ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|CTD-2525I3.6_ENST00000594379.1_RNA	p.V64F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	3	256	+			64			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.190G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	7.829	0.719438	0.15372	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.02301	4.35;4.35	2.04	-0.455	0.12193	Krueppel-associated box (4);	.	.	.	.	T	0.03564	0.0102	M	0.88181	2.935	0.09310	N	0.999999	P;B	0.47484	0.896;0.071	B;B	0.35813	0.211;0.062	T	0.31223	-0.9951	9	0.59425	D	0.04	.	2.7546	0.05289	0.3318:0.2535:0.4147:0.0	.	64;64	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	86;64;64	ENSP00000417424:V64F;ENSP00000334164:V64F	ENSP00000334164:V64F	V	+	1	0	ZNF480	57509335	0.000000	0.05858	0.423000	0.26634	0.132000	0.20833	-1.633000	0.02022	-0.205000	0.10219	0.508000	0.49915	GTC		0.542	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		34	83	1	0	1.61788e-16	0.012213	2.50036e-16	34	83				
PTBP2	58155	broad.mit.edu	37	1	97235421	97235422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:97235421_97235422insA	ENST00000426398.2	+	4	321_322	c.278_279insA	c.(277-282)ggaaaafs	p.GK93fs	PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.GK104fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.GK62fs|PTBP2_ENST00000609116.1_Frame_Shift_Ins_p.GK93fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.GK93fs|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.GK93fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	93	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATGCTGAAAGGAAAAAATCAGG	0.356																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(277-279)gaafs		polypyrimidine tract binding protein 2																																				SO:0001589	frameshift_variant	58155						nucleotide binding	g.chr1:97235421_97235422insA	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.284dupA	1.37:g.97235427_97235427dupA	ENSP00000412788:p.Gly93fs					PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.E104fs|PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.E62fs|PTBP2_ENST00000426398.2_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.E93fs	p.E93fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	4	360_361	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	93			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Frame_Shift_Ins	INS	ENST00000426398.2	37	c.278_279insA	CCDS754.1																																																																																				0.356	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			24	56						24	56	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	150						7	150	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	6						4	6	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			4	8						4	8	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	7						4	7	---	---	---	---
RP5-1121H13.4	0	broad.mit.edu	37	20	40627647	40627649	+	RNA	DEL	CTG	CTG	-			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr20:40627647_40627649delCTG	ENST00000431589.1	+	0	131																											CGCGGCCCGCCTGCTGCTGCTGC	0.714																																						ENST00000431589.1																			0																																																			0							g.chr20:40627647_40627649delCTG																													20.37:g.40627656_40627658delCTG														0	131	+									RNA	DEL	ENST00000431589.1	37																																																																																						0.714	RP5-1121H13.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000079282.1			2	4						2	4	---	---	---	---
