#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
LAG3	3902	broad.mit.edu	37	12	6884566	6884566	+	Silent	SNP	A	A	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr12:6884566A>G	ENST00000203629.2	+	5	1242	c.909A>G	c.(907-909)ggA>ggG	p.G303G	LAG3_ENST00000441671.2_Silent_p.G303G	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	303	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCCTGGGGGAGGCCCTGACC	0.632																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(907-909)ggA>ggG		lymphocyte-activation gene 3							92.0	87.0	89.0					12																	6884566		2203	4300	6503	SO:0001819	synonymous_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884566A>G		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.909A>G	12.37:g.6884566A>G						LAG3_ENST00000441671.2_Silent_p.G303G	p.G303G	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			5	1242	+			303			Ig-like C2-type 2.		A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	c.909A>G	CCDS8561.1																																																																																				0.632	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			3	112	0	0	0	1	0	3	112				
FAM155A	728215	broad.mit.edu	37	13	108518718	108518718	+	Missense_Mutation	SNP	T	T	C	rs3832903|rs372708176	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr13:108518718T>C	ENST00000375915.2	-	1	365	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	76	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgccgctgctgctgctg	0.672																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(226-228)cAg>cGg		family with sequence similarity 155, member A		T	ARG/GLN	0,4394		0,0,2197	24.0	30.0	28.0		227	5.1	1.0	13		28	1,8583		0,1,4291	no	missense	FAM155A	NM_001080396.2	43	0,1,6488	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	76/459	108518718	1,12977	2197	4292	6489	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518718T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.227A>G	13.37:g.108518718T>C	ENSP00000365080:p.Gln76Arg						p.Q76R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	365	-			76			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.227A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.066115	0.00382	0.0	1.16E-4	ENSG00000204442	ENST00000375915	T	0.71934	-0.61	5.13	5.13	0.70059	Armadillo-like helical (1);	0.788765	0.10459	N	0.672200	T	0.63616	0.2526	L	0.43923	1.385	0.22787	N	0.998731	B	0.18968	0.032	B	0.21917	0.037	T	0.52895	-0.8514	10	0.36615	T	0.2	.	9.2369	0.37473	0.1614:0.0:0.0:0.8386	.	76	B1AL88	F155A_HUMAN	R	76	ENSP00000365080:Q76R	ENSP00000365080:Q76R	Q	-	2	0	FAM155A	107316719	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.557000	0.60782	1.936000	0.56123	0.528000	0.53228	CAG		0.672	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	79	0	0	0	1	0	3	79				
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	94	0	0	0	1	0	3	94				
IDH3B	3420	broad.mit.edu	37	20	2641562	2641562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:2641562G>A	ENST00000380843.4	-	5	421	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131W(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TACCTCAGCCGCATATCATAG	0.567																																						ENST00000380843.4																			1	Substitution - Missense(1)	p.R131W(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(391-393)Cgg>Tgg		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						125.0	122.0	123.0					20																	2641562		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641562G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.391C>T	20.37:g.2641562G>A	ENSP00000370223:p.Arg131Trp					IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	p.R131W	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			5	421	-			131					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.391C>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496745	0.64186	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.69561	-0.41;-0.41	5.91	2.82	0.32997	Isopropylmalate dehydrogenase-like domain (2);	0.155759	0.56097	D	0.000031	T	0.79446	0.4447	M	0.83774	2.66	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.60345	0.655;0.873	T	0.81178	-0.1051	10	0.66056	D	0.02	-11.614	13.3641	0.60674	0.0:0.0:0.5468:0.4532	.	131;131	O43837-2;O43837	.;IDH3B_HUMAN	W	131	ENSP00000370232:R131W;ENSP00000370223:R131W	ENSP00000343215:R131W	R	-	1	2	IDH3B	2589562	1.000000	0.71417	0.922000	0.36590	0.966000	0.64601	0.806000	0.27126	0.343000	0.23821	-0.169000	0.13324	CGG		0.567	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			3	107	0	0	0	1	0	3	107				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	49	0	0	0	1	0	3	49				
ALOX12	239	broad.mit.edu	37	17	6902319	6902319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:6902319G>A	ENST00000251535.6	+	5	643	c.590G>A	c.(589-591)tGg>tAg	p.W197*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	197	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGAGCTCCTGGAACTGCCTA	0.552																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(589-591)tGg>tAg		arachidonate 12-lipoxygenase							134.0	121.0	125.0					17																	6902319		2203	4300	6503	SO:0001587	stop_gained	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902319G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.590G>A	17.37:g.6902319G>A	ENSP00000251535:p.Trp197*					RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	p.W197*	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			5	643	+			197			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	ENST00000251535.6	37	c.590G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432818	0.96150	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1348	13.8709	0.63617	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000251535:W197X	W	+	2	0	ALOX12	6843043	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.722000	0.74735	2.741000	0.93983	0.551000	0.68910	TGG		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			4	152	0	0	0	1	0	4	152				
RSPRY1	89970	broad.mit.edu	37	16	57238772	57238772	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:57238772G>A	ENST00000537866.1	+	2	1075	c.202G>A	c.(202-204)Gta>Ata	p.V68I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	68						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAACAGTGCAGTACCCACTGC	0.547																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(202-204)Gta>Ata		ring finger and SPRY domain containing 1							103.0	99.0	100.0					16																	57238772		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238772G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.202G>A	16.37:g.57238772G>A	ENSP00000443176:p.Val68Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I	p.V68I			Q96DX4	RSPRY_HUMAN			2	1075	+			68					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.202G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	5.141	0.211640	0.09757	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85411	-1.98;-1.98	5.27	-0.639	0.11497	.	0.645131	0.16087	N	0.230228	T	0.68860	0.3047	L	0.36672	1.1	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.004	T	0.49254	-0.8959	10	0.07325	T	0.83	.	2.5649	0.04781	0.1207:0.2067:0.3568:0.3158	.	68;68	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	I	68	ENSP00000377942:V68I;ENSP00000443176:V68I	ENSP00000377942:V68I	V	+	1	0	RSPRY1	55796273	0.245000	0.23899	0.990000	0.47175	0.980000	0.70556	0.795000	0.26972	0.277000	0.22141	-0.176000	0.13171	GTA		0.547	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		5	112	0	0	0	1	0	5	112				
PYGM	5837	broad.mit.edu	37	11	64520608	64520608	+	Silent	SNP	G	G	A	rs149123972	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr11:64520608G>A	ENST00000164139.3	-	12	1853	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.N397N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	485					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTGATGCCGTTGGTCTTAT	0.557																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1453-1455)aaC>aaT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)	G	,	2,4400	4.2+/-10.8	0,2,2199	193.0	216.0	208.0		1191,1455	-9.4	0.7	11	dbSNP_134	208	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	PYGM	NM_001164716.1,NM_005609.2	,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,	397/755,485/843	64520608	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64520608G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1455C>T	11.37:g.64520608G>A						PYGM_ENST00000377432.3_Silent_p.N397N	p.N485N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			12	1853	-			485					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1455C>T	CCDS8079.1																																																																																				0.557	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		6	374	0	0	0	1	0	6	374				
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9057556C>T	ENST00000397910.4	-	3	30093	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9966	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTAGCCCCAGGAGAACTT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29890-29892)Ggg>Agg		mucin 16, cell surface associated							257.0	249.0	252.0					19																	9057556		1960	4162	6122	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057556C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29890G>A	19.37:g.9057556C>T	ENSP00000381008:p.Gly9964Arg						p.G9964R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30093	-			9966			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29890G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.047	0.377084	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.03607	3.87	2.22	-1.53	0.08611	.	.	.	.	.	T	0.03348	0.0097	N	0.19112	0.55	.	.	.	P	0.35821	0.523	B	0.42163	0.378	T	0.41378	-0.9512	8	0.87932	D	0	.	5.2816	0.15678	0.0:0.5136:0.0:0.4864	.	9964	B5ME49	.	R	9964	ENSP00000381008:G9964R	ENSP00000381008:G9964R	G	-	1	0	MUC16	8918556	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.458000	0.06737	-0.252000	0.09528	0.460000	0.39030	GGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	305	0	0	0	1	0	15	305				
RPLP0P6	220717	broad.mit.edu	37	2	38708970	38708970	+	lincRNA	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr2:38708970G>T	ENST00000417039.1	-	0	696																											ACCCTGCGTGGCAATCCCTGA	0.512																																						ENST00000417039.1																			0																																																			0							g.chr2:38708970G>T																													2.37:g.38708970G>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.512	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			10	19	1	0	7.03913e-09	1	7.4982e-09	10	19				
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:117686282G>T	ENST00000368508.3	-	20	3257	c.3059C>A	c.(3058-3060)cCt>cAt	p.P1020H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3058-3060)cCt>cAt		c-ros oncogene 1 , receptor tyrosine kinase							91.0	91.0	91.0					6																	117686282		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686282G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3059C>A	6.37:g.117686282G>T	ENSP00000357494:p.Pro1020His					ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H|GOPC_ENST00000467125.1_Intron	p.P1020H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	20	3257	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1020			Fibronectin type-III 4.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3059C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125482	0.77436	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53857	0.6;0.6	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000006	T	0.53981	0.1830	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61417	-0.7067	10	0.87932	D	0	.	17.9707	0.89112	0.0:0.0:1.0:0.0	.	1020	P08922	ROS1_HUMAN	H	1020;1015	ENSP00000357494:P1020H;ENSP00000357493:P1015H	ENSP00000357493:P1015H	P	-	2	0	ROS1	117792975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.131000	0.71670	2.644000	0.89710	0.655000	0.94253	CCT		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	41	1	0	3.01185e-09	1	3.27957e-09	21	41				
DNM1	1759	broad.mit.edu	37	9	130984562	130984562	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:130984562G>A	ENST00000372923.3	+	7	1028	c.936G>A	c.(934-936)gaG>gaA	p.E312E	DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000341179.7_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E|DNM1_ENST00000486160.1_Silent_p.E312E	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	312					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGGAGGTGGAGGAATACAAGA	0.612																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(934-936)gaG>gaA		dynamin 1							86.0	80.0	82.0					9																	130984562		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984562G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.936G>A	9.37:g.130984562G>A						DNM1_ENST00000486160.1_Silent_p.E312E|DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000372923.3_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E	p.E312E	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			7	1028	+			312					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.936G>A	CCDS6895.1																																																																																				0.612	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		3	80	0	0	0	1	0	3	80				
ARMC2	84071	broad.mit.edu	37	6	109249435	109249435	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:109249435A>G	ENST00000392644.4	+	11	1663	c.1495A>G	c.(1495-1497)Agc>Ggc	p.S499G	ARMC2_ENST00000368972.3_Splice_Site_p.S334G	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	499										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAGAATATTCAGGTAGGTAGA	0.423																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.e11+1		armadillo repeat containing 2							143.0	133.0	136.0					6																	109249435		2203	4300	6503	SO:0001630	splice_region_variant	84071						binding	g.chr6:109249435A>G	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1496+1A>G	6.37:g.109249435A>G						ARMC2_ENST00000368972.3_Splice_Site_p.S334_splice	p.S499_splice	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	11	1663	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	499					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Splice_Site	SNP	ENST00000392644.4	37	c.1496_splice	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064320	0.76187	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.47177	0.85;0.85	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.038043	0.85682	D	0.000000	T	0.60945	0.2308	M	0.76574	2.34	0.51767	D	0.999932	D	0.89917	1.0	D	0.87578	0.998	T	0.66779	-0.5837	10	0.72032	D	0.01	-5.399	13.2323	0.59951	1.0:0.0:0.0:0.0	.	499	Q8NEN0	ARMC2_HUMAN	G	334;499	ENSP00000357968:S334G;ENSP00000376417:S499G	ENSP00000357968:S334G	S	+	1	0	ARMC2	109356128	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.895000	0.69814	2.165000	0.68154	0.528000	0.53228	AGC		0.423	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	Missense_Mutation	3	116	0	0	0	1	0	3	116				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	86	0	0	0	1	0	4	86				
CORIN	10699	broad.mit.edu	37	4	47839953	47839953	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:47839953G>C	ENST00000273857.4	-	1	13	c.14C>G	c.(13-15)cCt>cGt	p.P5R	RP11-121C2.2_ENST00000563286.1_lincRNA|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R|CORIN_ENST00000505909.1_Missense_Mutation_p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	5					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCGAGGGCAGGAGACTGTTT	0.557																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(13-15)cCt>cGt		corin, serine peptidase							109.0	111.0	111.0					4																	47839953		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47839953G>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.14C>G	4.37:g.47839953G>C	ENSP00000273857:p.Pro5Arg					CORIN_ENST00000505909.1_Missense_Mutation_p.P5R|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R	p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			1	13	-			5					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.14C>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805560	0.16467	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.92495	-2.53;-2.58;-2.42;-3.05	4.71	0.903	0.19296	.	0.612042	0.14744	N	0.301027	D	0.82453	0.5040	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.0;0.001	B;B;B;B	0.10450	0.004;0.005;0.001;0.002	T	0.70400	-0.4882	10	0.49607	T	0.09	.	4.3502	0.11151	0.2838:0.1664:0.5498:0.0	.	5;5;5;5	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	R	5	ENSP00000273857:P5R;ENSP00000424212:P5R;ENSP00000425401:P5R;ENSP00000423216:P5R	ENSP00000273857:P5R	P	-	2	0	CORIN	47534710	0.861000	0.29849	0.000000	0.03702	0.000000	0.00434	2.344000	0.44010	0.020000	0.15106	-0.258000	0.10820	CCT		0.557	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			13	161	0	0	0	1	0	13	161				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	55	0	0	0	1	0	3	55				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		5	18	0	0	0	1	0	5	18				
CUX1	1523	broad.mit.edu	37	7	101870709	101870709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:101870709G>T	ENST00000292535.7	+	21	3231	c.3193G>T	c.(3193-3195)Gag>Tag	p.E1065*	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E1076*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1065					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGTTCCAGTGAGTCGGTGAA	0.597																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3226-3228)Gag>Tag		cut-like homeobox 1							83.0	91.0	88.0					7																	101870709		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870709G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3193G>T	7.37:g.101870709G>T	ENSP00000292535:p.Glu1065*					CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E1065*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron	p.E1076*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			21	3246	+			1065					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.3226G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747788	0.98468	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-14.7319	19.7848	0.96432	0.0:0.0:1.0:0.0	.	.	.	.	X	1076;1065;1043;1009;963;907	.	ENSP00000292535:E1065X	E	+	1	0	CUX1	101657429	1.000000	0.71417	0.863000	0.33907	0.557000	0.35523	8.004000	0.88535	2.673000	0.90976	0.655000	0.94253	GAG		0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		33	205	1	0	4.46736e-08	1	4.65746e-08	33	205				
RPL23	9349	broad.mit.edu	37	17	37009327	37009327	+	Silent	SNP	C	C	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:37009327C>G	ENST00000479035.2	-	2	177	c.45G>C	c.(43-45)cgG>cgC	p.R15R	SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000577407.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394333.1_Silent_p.R15R|SNORA21_ENST00000362423.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						CCAAGGAAATCCGGAATTTCG	0.478																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.(43-45)cgG>cgC		ribosomal protein L23							74.0	65.0	68.0					17																	37009327		2203	4300	6503	SO:0001819	synonymous_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37009327C>G	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.45G>C	17.37:g.37009327C>G						RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394333.1_Silent_p.R15R|RPL23_ENST00000577407.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R	p.R15R	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			2	177	-			15					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Silent	SNP	ENST00000479035.2	37	c.45G>C	CCDS11330.1																																																																																				0.478	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		9	38	0	0	0	1	0	9	38				
PRKCB	5579	broad.mit.edu	37	16	24202517	24202517	+	Missense_Mutation	SNP	G	G	A	rs563116744		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:24202517G>A	ENST00000321728.7	+	16	2004	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R610H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	610	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R610H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAACTTGAACGCAAAGAGATC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18802	0.0		0.0	False		,,,				2504	0.001					ENST00000303531.7																			2	Substitution - Missense(2)	p.R610H(2)	large_intestine(2)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1828-1830)cGc>cAc		protein kinase C, beta	Vitamin E(DB00163)						120.0	122.0	122.0					16																	24202517		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202517G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1829G>A	16.37:g.24202517G>A	ENSP00000318315:p.Arg610His					PRKCB_ENST00000321728.7_Missense_Mutation_p.R610H	p.R610H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			16	1981	+			610			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1829G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536078	0.64972	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.54071	0.59;0.59	5.79	5.79	0.91817	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.124523	0.56097	D	0.000028	T	0.42787	0.1218	L	0.31207	0.915	0.42943	D	0.994353	B;B	0.21225	0.053;0.031	B;B	0.14578	0.011;0.005	T	0.24154	-1.0168	10	0.18710	T	0.47	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	610;610	P05771-2;P05771	.;KPCB_HUMAN	H	610	ENSP00000318315:R610H;ENSP00000305355:R610H	ENSP00000305355:R610H	R	+	2	0	PRKCB	24110018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.857000	0.48349	2.744000	0.94065	0.650000	0.86243	CGC		0.478	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		3	119	0	0	0	1	0	3	119				
PARP9	83666	broad.mit.edu	37	3	122259432	122259432	+	Missense_Mutation	SNP	A	A	G	rs143155766	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:122259432A>G	ENST00000360356.2	-	8	1984	c.1757T>C	c.(1756-1758)aTt>aCt	p.I586T	PARP9_ENST00000462315.1_Missense_Mutation_p.I551T|PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	586					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCTCCTTCAATCTCTAACTC	0.443													A|||	4	0.000798722	0.0008	0.0043	5008	,	,		19686	0.0		0.0	False		,,,				2504	0.0					ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1651-1653)aTt>aCt		poly (ADP-ribose) polymerase family, member 9		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	11,4395	19.1+/-41.9	0,11,2192	108.0	104.0	105.0		1757,1652,1652,1652,1652,1757	5.0	1.0	3	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	89,89,89,89,89,89	0,12,6491	GG,GA,AA		0.0116,0.2497,0.0923	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	586/855,551/820,551/820,551/820,551/711,586/855	122259432	12,12994	2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259432A>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1757T>C	3.37:g.122259432A>G	ENSP00000353512:p.Ile586Thr					PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000360356.2_Missense_Mutation_p.I586T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T	p.I551T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1945	-			586					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1652T>C	CCDS3014.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	A	14.82	2.649964	0.47362	0.002497	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.22743	2.92;2.45;2.8;2.8;1.94	4.98	4.98	0.66077	.	0.123300	0.36972	N	0.002316	T	0.32615	0.0835	M	0.66939	2.045	0.46437	D	0.99904	D;D;D;D	0.71674	0.995;0.995;0.998;0.994	P;P;D;P	0.65573	0.859;0.82;0.936;0.908	T	0.19712	-1.0297	10	0.87932	D	0	.	11.0072	0.47641	1.0:0.0:0.0:0.0	.	551;586;131;551	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	T	586;131;551;551;509;551	ENSP00000353512:I586T;ENSP00000417664:I131T;ENSP00000419506:I551T;ENSP00000419001:I551T;ENSP00000418894:I551T	ENSP00000353512:I586T	I	-	2	0	PARP9	123742122	1.000000	0.71417	0.999000	0.59377	0.287000	0.27160	5.165000	0.64959	2.097000	0.63578	0.528000	0.53228	ATT		0.443	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		12	23	0	0	0	1	0	12	23				
PLEKHG4	25894	broad.mit.edu	37	16	67316145	67316145	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:67316145G>A	ENST00000360461.5	+	8	3681	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	PLEKHG4_ENST00000427155.2_Silent_p.Q382Q|PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	382							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCTGATGCAGCAGGTGCTAG	0.612																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1144-1146)caG>caA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							46.0	49.0	48.0					16																	67316145		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316145G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1146G>A	16.37:g.67316145G>A						PLEKHG4_ENST00000427155.2_Silent_p.Q382Q|PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q	p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	8	3681	+			382					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1146G>A	CCDS32466.1																																																																																				0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		3	90	0	0	0	1	0	3	90				
DYRK1B	9149	broad.mit.edu	37	19	40319135	40319135	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:40319135G>A	ENST00000593685.1	-	6	1077	c.609C>T	c.(607-609)aaC>aaT	p.N203N	DYRK1B_ENST00000348817.3_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N|DYRK1B_ENST00000323039.5_Silent_p.N203N			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGTGGGTGTTGCGCAGGA	0.612																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(607-609)aaC>aaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							74.0	70.0	71.0					19																	40319135		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319135G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.609C>T	19.37:g.40319135G>A						DYRK1B_ENST00000323039.5_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000348817.3_Silent_p.N203N	p.N203N			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1077	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		203			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.609C>T	CCDS12543.1																																																																																				0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	30	0	0	0	1	0	3	30				
PRSS55	203074	broad.mit.edu	37	8	10387179	10387179	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:10387179C>A	ENST00000328655.3	+	2	357	c.317C>A	c.(316-318)gCg>gAg	p.A106E	PRSS55_ENST00000522210.1_Missense_Mutation_p.A106E|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATTCTCACTGCGGCTCACTGC	0.597																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(316-318)gCg>gAg		protease, serine, 55							204.0	205.0	205.0					8																	10387179		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387179C>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.317C>A	8.37:g.10387179C>A	ENSP00000333003:p.Ala106Glu					PRSS55_ENST00000522210.1_Missense_Mutation_p.A106E|PRSS51_ENST00000523024.1_RNA	p.A106E	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	357	+			106			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.317C>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891206	0.33442	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.95377	-3.69;-3.69	4.19	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.263995	0.20034	N	0.100642	D	0.97892	0.9307	H	0.94734	3.575	0.19575	N	0.999966	D	0.89917	1.0	D	0.83275	0.996	D	0.92509	0.6015	10	0.87932	D	0	.	7.763	0.28963	0.0:0.8883:0.0:0.1117	.	106	Q6UWB4	PRS55_HUMAN	E	106	ENSP00000333003:A106E;ENSP00000430459:A106E	ENSP00000333003:A106E	A	+	2	0	PRSS55	10424589	0.995000	0.38212	0.045000	0.18777	0.072000	0.16883	3.702000	0.54800	1.346000	0.45694	0.561000	0.74099	GCG		0.597	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		4	349	1	0	0.00909568	1	0.00909568	4	349				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	107	0	0	0	1	0	4	107				
CFAP44	55779	broad.mit.edu	37	3	113098181	113098181	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:113098181G>A	ENST00000295868.2	-	17	2432	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDR52_ENST00000393845.2_Missense_Mutation_p.S757L|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCCTGGCTCTGAGTAAAATCC	0.388																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2269-2271)tCa>tTa		WD repeat domain 52							56.0	58.0	57.0					3																	113098181		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098181G>A																												ENST00000295868.2:c.2270C>T	3.37:g.113098181G>A	ENSP00000295868:p.Ser757Leu					WDR52_ENST00000295868.2_Missense_Mutation_p.S757L	p.S757L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2336	-			757						Missense_Mutation	SNP	ENST00000295868.2	37	c.2270C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333707	0.60853	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.24350	1.86;1.86	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.44726	0.1307	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.09335	-1.0679	9	0.44086	T	0.13	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	757	Q96MT7	WDR52_HUMAN	L	757	ENSP00000377428:S757L;ENSP00000295868:S757L	ENSP00000295868:S757L	S	-	2	0	WDR52	114580871	1.000000	0.71417	0.968000	0.41197	0.279000	0.26890	5.130000	0.64745	2.826000	0.97356	0.563000	0.77884	TCA		0.388	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			14	41	0	0	0	1	0	14	41				
ZNF292	23036	broad.mit.edu	37	6	87964746	87964746	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:87964746G>T	ENST00000369577.3	+	8	1442	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	467						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCATCCATTGTGTCTTCAAT	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1399-1401)Gtg>Ttg		zinc finger protein 292							107.0	99.0	102.0					6																	87964746		1859	4089	5948	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964746G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1399G>T	6.37:g.87964746G>T	ENSP00000358590:p.Val467Leu					ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	p.V467L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1442	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	467					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1399G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914379	0.72983	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35789	1.29;1.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	L	0.54323	1.7	0.58432	D	0.999996	D	0.67145	0.996	D	0.68039	0.955	T	0.47355	-0.9124	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	467	O60281	ZN292_HUMAN	L	467;462	ENSP00000358590:V467L;ENSP00000342847:V462L	ENSP00000342847:V462L	V	+	1	0	ZNF292	88021465	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.062000	0.89475	2.880000	0.98712	0.650000	0.86243	GTG		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		20	42	1	0	2.79863e-10	1	3.11666e-10	20	42				
CTTNBP2	83992	broad.mit.edu	37	7	117386124	117386124	+	Silent	SNP	G	G	A	rs574986416		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:117386124G>A	ENST00000160373.3	-	13	3469	c.3378C>T	c.(3376-3378)caC>caT	p.H1126H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1126					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTCTGGGCCGTGGAAAATGA	0.393											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3376-3378)caC>caT		cortactin binding protein 2							143.0	130.0	135.0					7																	117386124		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117386124G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3378C>T	7.37:g.117386124G>A			OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1480		p.H1126H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3469	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1126					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3378C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914136	0.17907	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.87	-2.06	0.07298	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-0.2504	9.8545	0.41077	0.8027:0.0:0.1029:0.0944	.	.	.	.	W	614	.	.	R	-	1	2	CTTNBP2	117173360	0.974000	0.33945	0.982000	0.44146	0.996000	0.88848	0.078000	0.14761	-0.496000	0.06650	-0.150000	0.13652	CGG		0.393	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		4	132	0	0	0	1	0	4	132				
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16.0	20.0	18.0					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	22	0	0	0	1	0	5	22				
ZNF510	22869	broad.mit.edu	37	9	99537117	99537117	+	Missense_Mutation	SNP	G	G	A	rs148190358	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:99537117G>A	ENST00000375231.1	-	3	732	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGAGAACCGTAAAGGATAA	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		18483	0.0		0.002	False		,,,				2504	0.0					ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(82-84)Cgg>Tgg		zinc finger protein 510		G	TRP/ARG	0,4406		0,0,2203	85.0	85.0	85.0		82	2.7	0.0	9	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF510	NM_014930.1	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	28/684	99537117	2,13004	2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99537117G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.82C>T	9.37:g.99537117G>A	ENSP00000364379:p.Arg28Trp					ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W	p.R28W			Q9Y2H8	ZN510_HUMAN			3	732	-		Acute lymphoblastic leukemia(62;0.0527)	28					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.82C>T	CCDS35074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	13.82	2.349947	0.41599	0.0	2.33E-4	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.06449	3.3;3.3;5.7	2.7	2.7	0.31948	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	B	0.34452	0.183	T	0.42599	-0.9442	9	0.66056	D	0.02	.	9.0762	0.36522	0.0:0.0:1.0:0.0	.	28	Q9Y2H8	ZN510_HUMAN	W	28	ENSP00000364379:R28W;ENSP00000223428:R28W;ENSP00000363772:R28W	ENSP00000223428:R28W	R	-	1	2	ZNF510	98576938	0.112000	0.22096	0.020000	0.16555	0.616000	0.37450	2.367000	0.44213	1.831000	0.53308	0.561000	0.74099	CGG		0.458	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		3	70	0	0	0	1	0	3	70				
PER1	5187	broad.mit.edu	37	17	8053317	8053317	+	Silent	SNP	G	G	A	rs369395487		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:8053317G>A	ENST00000317276.4	-	4	738	c.501C>T	c.(499-501)taC>taT	p.Y167Y	PER1_ENST00000581082.1_Silent_p.Y167Y|PER1_ENST00000354903.5_Silent_p.Y151Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	167					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCCAGTGCGTACTGCAGCG	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					G|||	1	0.000199681	0.0	0.0	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.001					ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(499-501)taC>taT	Other conserved DNA damage response genes	period circadian clock 1		G		0,4406		0,0,2203	116.0	124.0	121.0		501	-9.5	0.1	17		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PER1	NM_002616.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		167/1291	8053317	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053317G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.501C>T	17.37:g.8053317G>A						PER1_ENST00000581082.1_Silent_p.Y167Y|PER1_ENST00000354903.5_Silent_p.Y151Y	p.Y167Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			4	738	-			167					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.501C>T	CCDS11131.1																																																																																				0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	298	0	0	0	1	0	5	298				
GPR98	84059	broad.mit.edu	37	5	90001231	90001231	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr5:90001231G>A	ENST00000405460.2	+	37	8497	c.8401G>A	c.(8401-8403)Gga>Aga	p.G2801R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2801					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACCAGCCGGAATCGCCCT	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(8401-8403)Gga>Aga		G protein-coupled receptor 98							163.0	157.0	159.0					5																	90001231		1956	4153	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90001231G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8401G>A	5.37:g.90001231G>A	ENSP00000384582:p.Gly2801Arg						p.G2801R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	37	8497	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2801					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8401G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457918	0.96240	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.34667	1.35	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63611	-0.6598	10	0.72032	D	0.01	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	2801;2801	E7ETI5;Q8WXG9	.;GPR98_HUMAN	R	2801	ENSP00000384582:G2801R	ENSP00000296619:G2801R	G	+	1	0	GPR98	90036987	1.000000	0.71417	0.810000	0.32431	0.300000	0.27592	9.043000	0.93799	2.729000	0.93468	0.650000	0.86243	GGA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	197	0	0	0	1	0	7	197				
GPRIN2	9721	broad.mit.edu	37	10	46999778	46999778	+	Missense_Mutation	SNP	G	G	A	rs147795605	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr10:46999778G>A	ENST00000374317.1	+	3	1171	c.898G>A	c.(898-900)Gct>Act	p.A300T	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A300T	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	300										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTGGGGTCCCGCTGGGTTAGT	0.617													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		39545	0.0		0.0	False		,,,				2504	0.0					ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(898-900)Gct>Act		G protein regulated inducer of neurite outgrowth 2		G	THR/ALA	2,4404	2.1+/-5.4	0,2,2201	70.0	75.0	73.0		898	-3.8	0.0	10	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GPRIN2	NM_014696.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	300/459	46999778	2,13004	2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999778G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.898G>A	10.37:g.46999778G>A	ENSP00000363436:p.Ala300Thr					GPRIN2_ENST00000374317.1_Missense_Mutation_p.A300T	p.A300T			O60269	GRIN2_HUMAN			1	1853	+			300					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.898G>A	CCDS31192.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	0.005	-2.153263	0.00325	4.54E-4	0.0	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03330	3.97;3.97	4.55	-3.81	0.04294	.	1.047480	0.07555	N	0.916074	T	0.01061	0.0035	N	0.01109	-1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47275	-0.9130	10	0.02654	T	1	-1.2323	6.8408	0.23961	0.3242:0.1802:0.4956:0.0	.	300	O60269	GRIN2_HUMAN	T	300	ENSP00000363436:A300T;ENSP00000363433:A300T	ENSP00000363433:A300T	A	+	1	0	GPRIN2	46419784	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.269000	0.18589	-0.527000	0.06374	-1.401000	0.01141	GCT		0.617	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		22	76	0	0	0	1	0	22	76				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	55	0	0	0	1	0	3	55				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	63	0	0	0	1	0	40	63				
CPAMD8	27151	broad.mit.edu	37	19	17088247	17088247	+	Silent	SNP	G	G	A	rs368338696		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:17088247G>A	ENST00000443236.1	-	15	1861	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	563						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTCCCTGACGTAGAAGACCA	0.592																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1828-1830)taC>taT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							61.0	64.0	63.0					19																	17088247		1973	4152	6125	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088247G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1830C>T	19.37:g.17088247G>A						CPAMD8_ENST00000388925.4_Intron	p.Y610Y	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			15	1861	-			563					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1830C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	g	7.685	0.689758	0.14973	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.78	-5.57	0.02521	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53920	-0.8370	4	.	.	.	.	10.3712	0.44055	0.6364:0.0:0.3636:0.0	.	.	.	.	M	621	.	.	T	-	2	0	CPAMD8	16949247	0.016000	0.18221	0.313000	0.25210	0.939000	0.58152	-1.226000	0.02953	-1.523000	0.01767	-0.944000	0.02675	ACG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		3	65	0	0	0	1	0	3	65				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	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.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	92	0	0	0	1	0	3	92				
FH	2271	broad.mit.edu	37	1	241665851	241665851	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:241665851C>A	ENST00000366560.3	-	8	1166	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	376					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTTCACACTGAGTAGGGT	0.408			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1126-1128)caG>caT		fumarate hydratase							104.0	86.0	92.0					1																	241665851		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665851C>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1128G>T	1.37:g.241665851C>A	ENSP00000355518:p.Gln376His						p.Q376H	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1166	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	376					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1128G>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846651	0.71603	.	.	ENSG00000091483	ENST00000366560	D	0.99429	-5.89	5.96	4.12	0.48240	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.124352	0.64402	D	0.000009	D	0.99539	0.9835	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-17.4801	11.1733	0.48584	0.0:0.8506:0.0:0.1494	.	376	P07954	FUMH_HUMAN	H	376	ENSP00000355518:Q376H	ENSP00000355518:Q376H	Q	-	3	2	FH	239732474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.963000	0.49184	0.873000	0.35799	-0.133000	0.14855	CAG		0.408	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		31	57	1	0	1.42033e-22	1	1.61852e-22	31	57				
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000426925.1_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(79-84)gaa>ga		SH3-domain binding protein 5 (BTK-associated)			,	55,4009		2,51,1979					,	1.1	0.1			22	132,7808		3,126,3841	no	coding,intron	SH3BP5	NM_004844.3,NM_001018009.2	,	5,177,5820	A1A1,A1R,RR		1.6625,1.3533,1.5578	,	,		187,11817				SO:0001651	inframe_deletion	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15373833_15373835delTCC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.81_83delGGA	3.37:g.15373842_15373844delTCC	ENSP00000373301:p.Glu29del					SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_Intron	p.EE27del	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			1	301_303	-			27			Glu-rich.		B3KQW6|Q5JWV9	In_Frame_Del	DEL	ENST00000383791.3	37	c.81_83delGGA	CCDS2625.2																																																																																				0.719	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		2	4						2	4	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1216-1218)ttfs		KIAA1009							141.0	150.0	147.0					6																	84896233		2202	4300	6502	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896233delA																												ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs					KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	p.F406fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1332	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	406						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.1218delT	CCDS34494.2																																																																																				0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	136						7	136	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	415						7	415	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680476	61680477	+	lincRNA	INS	-	-	TCT	rs13042292		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:61680476_61680477insTCT	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						cctcttcctcctcctcctcctc	0.604																																						ENST00000607802.1																			0																																																			0							g.chr20:61680476_61680477insTCT																													20.37:g.61680476_61680477insTCT						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	INS	ENST00000607802.1	37																																																																																						0.604	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
