#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DGKQ	1609	broad.mit.edu	37	4	959854	959854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:959854G>A	ENST00000273814.3	-	13	1514	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	481	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCTCACCTGCCGCACAGAC	0.662																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1441-1443)Cag>Tag		Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.							28.0	23.0	24.0					4																	959854		2190	4289	6479	SO:0001587	stop_gained	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959854G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1441C>T	4.37:g.959854G>A	ENSP00000273814:p.Gln481*		Somatic				DGKQ_uc010ibn.3_Nonsense_Mutation_p.Q481*	p.Q481*	NM_001347	NP_001338	WXS	Illumina GAIIx	Phase_I	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		12	1515	-			481			Ras-associating.		Q6P3W4	Nonsense_Mutation	SNP	ENST00000273814.3	37	c.1441C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746645	0.96882	.	.	ENSG00000145214	ENST00000273814	.	.	.	4.23	4.23	0.50019	.	0.113517	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.1698	0.65503	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000273814:Q481X	Q	-	1	0	DGKQ	949854	0.995000	0.38212	0.787000	0.31911	0.253000	0.25986	4.769000	0.62300	2.191000	0.70037	0.651000	0.88453	CAG		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	4	0	0	0	1	0	5	4				
PPRC1	23082	broad.mit.edu	37	10	103908243	103908243	+	Silent	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:103908243C>T	ENST00000278070.2	+	10	4554	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	PPRC1_ENST00000370012.1_Silent_p.S472S|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1241S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1505	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCACGATCCCCATCCCCCC	0.562																																						uc001kum.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4513-4515)tcC>tcT		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.							120.0	103.0	109.0					10																	103908243		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	g.chr10:103908243C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4515C>T	10.37:g.103908243C>T			Somatic				PPRC1_uc001kun.3_Silent_p.S1385S|PPRC1_uc010qqj.2_Silent_p.S1241S|PPRC1_uc009xxa.3_Non-coding_Transcript	p.S1505S	NM_015062	NP_055877	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4554	+		Colorectal(252;0.122)	1505			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4515C>T	CCDS7529.1																																																																																				0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		11	90	0	0	0	1	0	11	90				
EDRF1	26098	broad.mit.edu	37	10	127408456	127408456	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:127408456A>T	ENST00000356792.4	+	1	312	c.80A>T	c.(79-81)cAg>cTg	p.Q27L	RP11-383C5.4_ENST00000423178.2_lincRNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.Q27L|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTGTCCCAGGGAGAATCC	0.711																																						uc001liq.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(79-81)cAg>cTg		Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.							20.0	24.0	22.0					10																	127408456		2201	4293	6494	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127408456A>T																												ENST00000356792.4:c.80A>T	10.37:g.127408456A>T	ENSP00000349244:p.Gln27Leu		Somatic				FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.Q27L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.Q27L	p.Q27L	NM_001202438	NP_001189367	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			0	373	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	27					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.80A>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168246	0.57476	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.39229	1.09;1.09	4.42	2.06	0.26882	.	0.389621	0.21139	N	0.079509	T	0.19127	0.0459	N	0.08118	0	0.21782	N	0.999546	B;B;B	0.18310	0.027;0.027;0.001	B;B;B	0.18871	0.023;0.023;0.009	T	0.10917	-1.0609	10	0.49607	T	0.09	.	4.0048	0.09597	0.6737:0.2163:0.11:0.0	.	27;27;27	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	L	27	ENSP00000349244:Q27L;ENSP00000336727:Q27L	ENSP00000336727:Q27L	Q	+	2	0	C10orf137	127398446	0.063000	0.20901	0.969000	0.41365	0.936000	0.57629	0.515000	0.22801	0.800000	0.34041	0.533000	0.62120	CAG		0.711	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			12	20	0	0	0	1	0	12	20				
PRDM16	63976	broad.mit.edu	37	1	3102815	3102815	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:3102815C>T	ENST00000270722.5	+	2	213	c.164C>T	c.(163-165)cCc>cTc	p.P55L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P55L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P55L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P55L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P55L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P55L|PRDM16_ENST00000378398.3_Missense_Mutation_p.P55L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	55					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCCCCCTTCCCCACCAGCGAG	0.662			T	EVI1	"""MDS, AML"""																																	uc001akf.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(163-165)cCc>cTc		Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.							45.0	59.0	54.0					1																	3102815		2123	4192	6315	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3102815C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.164C>T	1.37:g.3102815C>T	ENSP00000270722:p.Pro55Leu		Somatic				PRDM16_uc001ake.3_Missense_Mutation_p.P55L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P55L	p.P55L	NM_022114	NP_071397	WXS	Illumina GAIIx	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	1	246	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	55					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.164C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939386	0.52972	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.1	5.1	0.69264	.	0.000000	0.44688	U	0.000428	T	0.58090	0.2098	L	0.47716	1.5	0.58432	D	0.999996	B;B;D;B	0.76494	0.06;0.099;0.999;0.06	B;B;D;B	0.65323	0.018;0.041;0.934;0.018	T	0.61584	-0.7033	10	0.87932	D	0	.	18.5117	0.90918	0.0:1.0:0.0:0.0	.	55;55;55;55	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	55	ENSP00000426975:P55L;ENSP00000367651:P55L;ENSP00000407968:P55L;ENSP00000405253:P55L;ENSP00000367643:P55L;ENSP00000421400:P55L;ENSP00000270722:P55L	ENSP00000270722:P55L	P	+	2	0	PRDM16	3092675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.803000	0.55560	2.368000	0.80403	0.561000	0.74099	CCC		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		24	63	0	0	0	1	0	24	63				
ALG10B	144245	broad.mit.edu	37	12	38714267	38714267	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr12:38714267G>T	ENST00000308742.4	+	3	990	c.674G>T	c.(673-675)gGa>gTa	p.G225V	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	225					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G225V(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTATTAAAGGACCATTTGCA	0.393																																						uc001rln.4																			1	Substitution - Missense(1)	p.G225V(2)	lung(1)	breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(673-675)gGa>gTa		Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.							85.0	91.0	89.0					12																	38714267		2200	4294	6494	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714267G>T	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.674G>T	12.37:g.38714267G>T	ENSP00000310120:p.Gly225Val		Somatic					p.G225V	NM_001013620	NP_001013642	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			2	813	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	225					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.674G>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	2.494	-0.316750	0.05386	.	.	ENSG00000175548	ENST00000308742	T	0.30182	1.54	3.09	3.09	0.35607	.	0.242267	0.41294	D	0.000913	T	0.31482	0.0798	M	0.76328	2.33	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.13656	-1.0501	10	0.15952	T	0.53	.	12.4259	0.55546	0.0:0.0:1.0:0.0	.	225	Q5I7T1	AG10B_HUMAN	V	225	ENSP00000310120:G225V	ENSP00000310120:G225V	G	+	2	0	ALG10B	37000534	1.000000	0.71417	0.268000	0.24571	0.099000	0.18886	2.754000	0.47532	2.033000	0.60031	0.549000	0.68633	GGA		0.393	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		8	138	0	0	0	1	0	8	138				
CYB5D1	124637	broad.mit.edu	37	17	7761468	7761468	+	Silent	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr17:7761468C>T	ENST00000332439.4	+	1	168	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|CYB5D1_ENST00000571846.1_Silent_p.L6L|CYB5D1_ENST00000570446.1_Silent_p.L6L	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	6							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GCGCCGGGGCCTGGTGGCTGG	0.587																																						uc002gjb.4																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6						c.(16-18)Ctg>Ttg		Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), mRNA.							73.0	81.0	78.0					17																	7761468		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761468C>T	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.16C>T	17.37:g.7761468C>T			Somatic				LSMD1_uc002giz.3_5'Flank|LSMD1_uc002gja.3_5'Flank|CYB5D1_uc021tpi.1_5'Flank	p.L6L	NM_144607	NP_653208	WXS	Illumina GAIIx	Phase_I	Q6P9G0	CB5D1_HUMAN			0	405	+		all_cancers(10;0.11)|Prostate(122;0.219)	6					D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.16C>T	CCDS11123.1																																																																																				0.587	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		25	63	0	0	0	1	0	25	63				
MORF4L2	9643	broad.mit.edu	37	X	102931475	102931475	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:102931475C>T	ENST00000441076.2	-	4	785	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MORF4L2_ENST00000422154.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000423833.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000492116.1_5'Flank	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	161	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTGCATACTCCTCCAGAATT	0.388																																						uc004ekw.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(481-483)Gag>Aag		Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.							139.0	138.0	138.0					X																	102931475		2203	4300	6503	SO:0001583	missense	9643				DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931475C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.481G>A	X.37:g.102931475C>T	ENSP00000391969:p.Glu161Lys		Somatic				MORF4L2_uc004ela.3_Missense_Mutation_p.E161K|MORF4L2_uc004elb.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekx.3_Missense_Mutation_p.E161K|MORF4L2_uc004eky.3_Missense_Mutation_p.E161K|MORF4L2_uc010nos.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekz.3_Missense_Mutation_p.E161K|MORF4L2_uc011mry.2_Missense_Mutation_p.E161K|MORF4L2_uc011mrz.2_Missense_Mutation_p.E161K|MORF4L2_uc004elc.3_Missense_Mutation_p.E161K|MORF4L2_uc004ele.3_Missense_Mutation_p.E161K|MORF4L2_uc004elf.3_Missense_Mutation_p.E161K|MORF4L2_uc011msa.2_Missense_Mutation_p.E161K|MORF4L2_uc011msb.2_Missense_Mutation_p.E161K|MORF4L2_uc011msc.2_Missense_Mutation_p.E161K|MORF4L2_uc011msd.2_Missense_Mutation_p.E161K|MORF4L2_uc004eld.3_Missense_Mutation_p.E161K|MORF4L2_uc022cbw.1_Missense_Mutation_p.E161K	p.E161K	NM_012286	NP_036418	WXS	Illumina GAIIx	Phase_I	Q15014	MO4L2_HUMAN			3	1713	-			161					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.481G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569705	0.45798	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819	T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02	4.79	4.79	0.61399	.	0.147155	0.64402	D	0.000012	T	0.06600	0.0169	N	0.24115	0.695	0.58432	D	0.999992	P	0.36837	0.571	B	0.35114	0.196	T	0.47971	-0.9075	10	0.24483	T	0.36	-10.4886	14.5691	0.68200	0.0:1.0:0.0:0.0	.	161	Q15014	MO4L2_HUMAN	K	161;43;161;161;161;143;161;161;161;161	ENSP00000353643:E161K;ENSP00000361703:E43K;ENSP00000415476:E161K;ENSP00000394417:E161K;ENSP00000410532:E161K;ENSP00000391969:E161K;ENSP00000416120:E161K;ENSP00000413664:E161K;ENSP00000393283:E161K	ENSP00000353643:E161K	E	-	1	0	MORF4L2	102818131	1.000000	0.71417	0.975000	0.42487	0.446000	0.32137	5.815000	0.69215	2.618000	0.88619	0.600000	0.82982	GAG		0.388	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		61	158	0	0	0	1	0	61	158				
CHCHD2	51142	broad.mit.edu	37	7	56172116	56172116	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:56172116G>T	ENST00000395422.3	-	2	265	c.103C>A	c.(103-105)Cca>Aca	p.P35T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	35						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCTGCTGGTGGCTGAGCG	0.597																																						uc003tsa.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(103-105)Cca>Aca		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.							11.0	14.0	13.0					7																	56172116		2185	4290	6475	SO:0001583	missense	51142					mitochondrion		g.chr7:56172116G>T	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.103C>A	7.37:g.56172116G>T	ENSP00000378812:p.Pro35Thr		Somatic				PSPH_uc003trj.3_Intron	p.P35T	NM_016139	NP_057223	WXS	Illumina GAIIx	Phase_I	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		1	184	-	Breast(14;0.214)		35					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.103C>A	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662628	0.67700	.	.	ENSG00000106153	ENST00000395422	T	0.51325	0.71	5.09	5.09	0.68999	.	0.252596	0.39544	N	0.001332	T	0.69242	0.3089	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.69760	-0.5058	10	0.37606	T	0.19	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	35	Q9Y6H1	CHCH2_HUMAN	T	35	ENSP00000378812:P35T	ENSP00000378812:P35T	P	-	1	0	CHCHD2	56139610	1.000000	0.71417	0.539000	0.28077	0.994000	0.84299	9.357000	0.97099	2.655000	0.90218	0.655000	0.94253	CCA		0.597	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		4	10	0	0	0	1	0	4	10				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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		22	47	0	0	0	1	0	22	47				
UGT2A1	10941	broad.mit.edu	37	4	70464983	70464983	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:70464983G>A	ENST00000503640.1	-	2	900	c.845C>T	c.(844-846)cCt>cTt	p.P282L	UGT2A2_ENST00000457664.2_Missense_Mutation_p.P291L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P492L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P282L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P326L|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	282					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGTTTGGCAGGTTTGCAGTG	0.348																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1474-1476)cCt>cTt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							63.0	60.0	61.0					4																	70464983		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70464983G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.845C>T	4.37:g.70464983G>A	ENSP00000424478:p.Pro282Leu		Somatic				UGT2A1_uc010ihu.3_Missense_Mutation_p.P326L|UGT2A1_uc003hem.4_Missense_Mutation_p.P282L|UGT2A1_uc010ihs.3_Missense_Mutation_p.P291L|UGT2A1_uc021xox.1_Missense_Mutation_p.P291L|UGT2A1_uc010iht.3_Missense_Mutation_p.P282L	p.P492L	NM_001252274	NP_001239203	WXS	Illumina GAIIx	Phase_I	Q9Y4X1	UD2A1_HUMAN			3	1591	-			282					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1475C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179821	0.78564	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62639	0.12;0.12;0.09;0.09;0.01	4.64	4.64	0.57946	.	0.058586	0.64402	D	0.000001	T	0.81202	0.4773	M	0.87547	2.89	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.989;1.0;0.999;0.999	D	0.85142	0.0981	9	0.56958	D	0.05	.	15.3983	0.74816	0.0:0.0:1.0:0.0	.	492;492;282;291;282	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	291;282;282;492;326	ENSP00000387888:P291L;ENSP00000424478:P282L;ENSP00000421432:P282L;ENSP00000425497:P492L;ENSP00000286604:P326L	ENSP00000286604:P326L	P	-	2	0	UGT2A1	70499572	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.215000	0.72206	2.558000	0.86282	0.563000	0.77884	CCT		0.348	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		5	39	0	0	0	1	0	5	39				
RGS18	64407	broad.mit.edu	37	1	192150498	192150498	+	Silent	SNP	A	A	G			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:192150498A>G	ENST00000367460.3	+	4	541	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCCTGTGAAGATTTCAAGA	0.313																																						uc001gsg.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(358-360)gaA>gaG		Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.							45.0	49.0	47.0					1																	192150498		2196	4285	6481	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150498A>G	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.360A>G	1.37:g.192150498A>G			Somatic					p.E120E	NM_130782	NP_570138	WXS	Illumina GAIIx	Phase_I	Q9NS28	RGS18_HUMAN			3	536	+			120			RGS.		B2RD23	Silent	SNP	ENST00000367460.3	37	c.360A>G	CCDS1374.1																																																																																				0.313	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		3	35	0	0	0	1	0	3	35				
GPR119	139760	broad.mit.edu	37	X	129519127	129519127	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:129519127T>G	ENST00000276218.2	-	1	384	c.295A>C	c.(295-297)Atc>Ctc	p.I99L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	99					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCAAAGGTGATCAGCATGACC	0.592																																						uc011muv.2																			0		p.I99M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(295-297)Atc>Ctc		Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.							129.0	126.0	127.0					X																	129519127		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519127T>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.295A>C	X.37:g.129519127T>G	ENSP00000276218:p.Ile99Leu		Somatic					p.I99L	NM_178471	NP_848566	WXS	Illumina GAIIx	Phase_I	Q8TDV5	GP119_HUMAN			0	385	-			99					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.295A>C	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851536	0.71719	.	.	ENSG00000147262	ENST00000276218	T	0.79141	-1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.065684	0.64402	D	0.000014	D	0.83151	0.5192	M	0.75615	2.305	0.43846	D	0.996432	D	0.57899	0.981	P	0.58077	0.832	D	0.84217	0.0459	10	0.59425	D	0.04	-12.0252	7.9914	0.30242	0.0:0.0957:0.0:0.9043	.	99	Q8TDV5	GP119_HUMAN	L	99	ENSP00000276218:I99L	ENSP00000276218:I99L	I	-	1	0	GPR119	129346808	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.434000	0.52841	1.872000	0.54250	0.417000	0.27973	ATC		0.592	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		52	114	0	0	0	1	0	52	114				
FGF20	26281	broad.mit.edu	37	8	16850687	16850687	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:16850687T>C	ENST00000180166.5	-	3	678	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	177					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTGGCGCCATCTCTTGGAGT	0.428																																						uc003wxc.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(529-531)gAt>gGt		Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.							186.0	165.0	172.0					8																	16850687		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850687T>C	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.530A>G	8.37:g.16850687T>C	ENSP00000180166:p.Asp177Gly		Somatic				FGF20_uc010lsw.1_3'UTR	p.D177G	NM_019851	NP_062825	WXS	Illumina GAIIx	Phase_I	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	663	-			177					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.530A>G	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943121	0.73672	.	.	ENSG00000078579	ENST00000180166	T	0.66995	-0.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.54323	1.7	0.80722	D	1	B	0.26708	0.157	B	0.41646	0.362	T	0.71724	-0.4506	10	0.62326	D	0.03	.	16.5479	0.84454	0.0:0.0:0.0:1.0	.	177	Q9NP95	FGF20_HUMAN	G	177	ENSP00000180166:D177G	ENSP00000180166:D177G	D	-	2	0	FGF20	16895058	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			39	91	0	0	0	1	0	39	91				
TTN	7273	broad.mit.edu	37	2	179436988	179436988	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr2:179436988G>A	ENST00000591111.1	-	276	69172	c.68948C>T	c.(68947-68949)aCt>aTt	p.T22983I	TTN_ENST00000342992.6_Missense_Mutation_p.T22056I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15559I|TTN_ENST00000359218.5_Missense_Mutation_p.T15684I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15751I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24624I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22983	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATCAAAGTTATTTTTCC	0.468																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66166-66168)aCt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84.0	78.0	80.0					2																	179436988		1957	4158	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436988G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68948C>T	2.37:g.179436988G>A	ENSP00000465570:p.Thr22983Ile		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15751I|TTN_uc021vta.1_Missense_Mutation_p.T15684I|TTN_uc021vtb.1_Missense_Mutation_p.T15559I	p.T22056I	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	66392	-			22983			Ig-like 115.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66167C>T		.	.	.	.	.	.	.	.	.	.	G	14.49	2.551253	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74665	0.3746	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.70227	0.968;0.968;0.968;0.959	T	0.74771	-0.3552	9	0.87932	D	0	.	20.4292	0.99080	0.0:0.0:1.0:0.0	.	15559;15684;15751;22983	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22056;15559;15751;15684;15557	ENSP00000343764:T22056I;ENSP00000434586:T15559I;ENSP00000340554:T15751I;ENSP00000352154:T15684I	ENSP00000340554:T15751I	T	-	2	0	TTN	179145234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.839000	0.97877	0.650000	0.86243	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	0	0	0	1	0	9	30				
FLG2	388698	broad.mit.edu	37	1	152325310	152325310	+	Missense_Mutation	SNP	G	G	T	rs188198910		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:152325310G>T	ENST00000388718.5	-	3	5024	c.4952C>A	c.(4951-4953)tCt>tAt	p.S1651Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1651					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1651Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTGGCTAGATCTCTGTCT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		26792	0.0		0.001	False		,,,				2504	0.0					uc001ezw.4																			1	Substitution - Missense(1)	p.S1651Y(2)|p.R1650I(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4951-4953)tCt>tAt		Homo sapiens filaggrin family member 2 (FLG2), mRNA.		G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	429.0	382.0	398.0		4952	1.4	0.0	1		398	0,8600		0,0,4300	no	missense	FLG2	NM_001014342.2	144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1651/2392	152325310	1,13005	2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325310G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4952C>A	1.37:g.152325310G>T	ENSP00000373370:p.Ser1651Tyr		Somatic				AK056431_uc001ezv.3_Intron	p.S1651Y	NM_001014342	NP_001014364	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5025	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1651					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4952C>A	CCDS30861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.901	1.206774	0.22205	2.27E-4	0.0	ENSG00000143520	ENST00000388718	T	0.35421	1.31	4.56	1.43	0.22495	.	.	.	.	.	T	0.21509	0.0518	L	0.48986	1.54	0.09310	N	1	D	0.59357	0.985	P	0.50970	0.655	T	0.05632	-1.0873	9	0.62326	D	0.03	0.1094	5.648	0.17600	0.0952:0.0:0.5627:0.3421	.	1651	Q5D862	FILA2_HUMAN	Y	1651	ENSP00000373370:S1651Y	ENSP00000373370:S1651Y	S	-	2	0	FLG2	150591934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.484000	0.22308	0.098000	0.17522	0.549000	0.68633	TCT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		111	298	0	0	0	1	0	111	298				
MICALL1	85377	broad.mit.edu	37	22	38318081	38318081	+	Silent	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr22:38318081G>A	ENST00000215957.6	+	6	798	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	224	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGGCCCGGGGACACGGTCGG	0.652																																						uc003aui.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(670-672)ggG>ggA		Homo sapiens MICAL-like 1 (MICALL1), mRNA.							34.0	35.0	35.0					22																	38318081		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318081G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.672G>A	22.37:g.38318081G>A			Somatic					p.G224G	NM_033386	NP_203744	WXS	Illumina GAIIx	Phase_I	Q8N3F8	MILK1_HUMAN			5	947	+	Melanoma(58;0.045)		224			LIM zinc-binding.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.672G>A	CCDS13961.1																																																																																				0.652	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		4	40	0	0	0	1	0	4	40				
ZC3H3	23144	broad.mit.edu	37	8	144548018	144548018	+	Splice_Site	SNP	T	T	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:144548018T>A	ENST00000262577.5	-	9	2207	c.2176A>T	c.(2176-2178)Atg>Ttg	p.M726L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	726					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACACCGGCATCTGCAGGGAG	0.652																																						uc003yyd.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.e9-1		Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.							45.0	37.0	40.0					8																	144548018		2203	4300	6503	SO:0001630	splice_region_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144548018T>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2176-1A>T	8.37:g.144548018T>A			Somatic					p.M726_splice	NM_015117	NP_055932	WXS	Illumina GAIIx	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2205	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		726					Q14163|Q8N4E2|Q9BUS4	Splice_Site	SNP	ENST00000262577.5	37	c.2176_splice	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631133	0.67015	.	.	ENSG00000014164	ENST00000262577	T	0.43294	0.95	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.82056	2.57	0.58432	D	0.999998	P	0.44986	0.847	P	0.56916	0.809	T	0.68119	-0.5493	10	0.72032	D	0.01	-22.982	14.4022	0.67056	0.0:0.0:0.0:1.0	.	726	Q8IXZ2	ZC3H3_HUMAN	L	726	ENSP00000262577:M726L	ENSP00000262577:M726L	M	-	1	0	ZC3H3	144619161	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.599000	0.82757	1.818000	0.53035	0.459000	0.35465	ATG		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	Missense_Mutation	3	17	0	0	0	1	0	3	17				
RRBP1	6238	broad.mit.edu	37	20	17601284	17601285	+	Intron	INS	-	-	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr20:17601284_17601285insA	ENST00000377813.1	-	17	3811				RRBP1_ENST00000246043.4_Intron|RRBP1_ENST00000470422.1_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1						osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCACAGGTGACAGAGACAATCC	0.624																																						uc010gcm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(640-645)tctgtcfs		Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.																																				SO:0001627	intron_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17601284_17601285insA	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3507+74->T	20.37:g.17601285_17601285dupA			Somatic				RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Intron|RRBP1_uc002wpu.3_Intron|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Intron	p.S214fs			WXS	Illumina GAIIx	Phase_I	Q9P2E9	RRBP1_HUMAN			7	1000_1001	-			889			41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Frame_Shift_Ins	INS	ENST00000377813.1	37	c.642_643insT																																																																																					0.624	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		4	7						4	7	---	---	---	---
