#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
GLIS1	148979	broad.mit.edu	37	1	54060499	54060499	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:54060499A>G	ENST00000312233.2	-	3	643	c.77T>C	c.(76-78)cTc>cCc	p.L26P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TCGGCCCGGGAGGTCCAGGTC	0.706																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(76-78)cTc>cCc		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							13.0	19.0	17.0					1																	54060499		2161	4211	6372	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060499A>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.77T>C	1.37:g.54060499A>G	ENSP00000309653:p.Leu26Pro						p.L26P	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			2	644	-			26						Missense_Mutation	SNP	ENST00000312233.2	37	c.77T>C	CCDS582.1	.	.	.	.	.	.	.	.	.	.	A	8.439	0.850333	0.17034	.	.	ENSG00000174332	ENST00000312233	T	0.14516	2.5	4.53	4.53	0.55603	.	0.134805	0.33534	N	0.004818	T	0.15132	0.0365	L	0.27053	0.805	0.50313	D	0.999863	P	0.44090	0.826	P	0.47470	0.548	T	0.02156	-1.1204	10	0.62326	D	0.03	.	13.1467	0.59465	1.0:0.0:0.0:0.0	.	26	Q8NBF1	GLIS1_HUMAN	P	26	ENSP00000309653:L26P	ENSP00000309653:L26P	L	-	2	0	GLIS1	53833087	0.999000	0.42202	0.822000	0.32727	0.337000	0.28794	3.882000	0.56160	1.988000	0.58038	0.460000	0.39030	CTC		0.706	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	
HSP90B3P	343477	broad.mit.edu	37	1	92108745	92108745	+	IGR	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:92108745C>T								CDC7 (117424 upstream) : TGFBR3 (37156 downstream)																							CCACTCCAATCAAACATGTCT	0.373																																						uc010osx.2																			0											c.(772-774)Caa>Taa		Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																																				SO:0001628	intergenic_variant	343477							g.chr1:92108745C>T																													1.37:g.92108745C>T							p.Q258*							2	772	+									Nonsense_Mutation	SNP		37	c.772C>T																																																																																				0	0.373								
TRIM46	80128	broad.mit.edu	37	1	155150608	155150608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:155150608G>A	ENST00000334634.4	+	6	1040	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	TRIM46_ENST00000368385.4_Missense_Mutation_p.S347N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.S221N|TRIM46_ENST00000543729.1_Missense_Mutation_p.S354N|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.S347N|TRIM46_ENST00000368382.1_Missense_Mutation_p.S324N|TRIM46_ENST00000392451.2_Missense_Mutation_p.S347N	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	347						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGTCTCAGCGCCCAGATC	0.622																																						uc001fhs.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1039-1041)aGc>aAc		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							29.0	32.0	31.0					1																	155150608		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155150608G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1040G>A	1.37:g.155150608G>A	ENSP00000334657:p.Ser347Asn					TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_Non-coding_Transcript	p.S347N	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1123	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		347					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1040G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	6.418	0.445329	0.12164	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.51574	0.76;1.0;1.0;0.7;1.0;1.0;1.0	3.59	3.59	0.41128	.	0.371662	0.25944	N	0.027281	T	0.11580	0.0282	N	0.16478	0.41	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.027;0.016;0.002	B;B;B;B	0.13407	0.001;0.004;0.009;0.003	T	0.10019	-1.0648	10	0.22706	T	0.39	.	7.0334	0.24980	0.1259:0.0:0.8741:0.0	.	347;324;347;347	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	N	354;305;347;221;347;347;324;347	ENSP00000442719:S354N;ENSP00000357369:S347N;ENSP00000440254:S221N;ENSP00000376245:S347N;ENSP00000357367:S347N;ENSP00000357366:S324N;ENSP00000334657:S347N	ENSP00000334657:S347N	S	+	2	0	TRIM46	153417232	0.431000	0.25546	0.994000	0.49952	0.923000	0.55619	3.477000	0.53151	2.011000	0.59026	0.313000	0.20887	AGC		0.622	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
IGSF8	93185	broad.mit.edu	37	1	160063842	160063842	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:160063842C>T	ENST00000368086.1	-	3	778	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.A188T			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	188	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTCCTCGCCAGGCAGCCC	0.677																																						uc001fva.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(562-564)Gcg>Acg		Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.							66.0	63.0	64.0					1																	160063842		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063842C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.562G>A	1.37:g.160063842C>T	ENSP00000357065:p.Ala188Thr					IGSF8_uc001fuz.3_Missense_Mutation_p.A188T|IGSF8_uc009wtf.3_Missense_Mutation_p.A188T	p.A188T	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	607	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		188			Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.562G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339262	0.81911	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.25414	1.8;1.8;1.8	3.88	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.35038	0.0918	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.13072	-1.0523	10	0.54805	T	0.06	-19.8926	15.1322	0.72533	0.0:1.0:0.0:0.0	.	188	Q969P0	IGSF8_HUMAN	T	188	ENSP00000316664:A188T;ENSP00000357065:A188T;ENSP00000397464:A188T	ENSP00000316664:A188T	A	-	1	0	IGSF8	158330466	1.000000	0.71417	0.985000	0.45067	0.824000	0.46624	4.645000	0.61404	2.170000	0.68504	0.591000	0.81541	GCG		0.677	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
OBSCN	84033	broad.mit.edu	37	1	228511139	228511139	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511139G>A	ENST00000422127.1	+	56	15528	c.15484G>A	c.(15484-15486)Gat>Aat	p.D5162N	OBSCN_ENST00000570156.2_Missense_Mutation_p.D6119N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2796N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D5162N|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2281N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5162	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTTCAAGGATGGGAAGTT	0.537																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15484-15486)Gat>Aat		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							103.0	104.0	104.0					1																	228511139		2160	4266	6426	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511139G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15484G>A	1.37:g.228511139G>A	ENSP00000409493:p.Asp5162Asn					OBSCN_uc001hsn.3_Missense_Mutation_p.D5162N	p.D5162N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15528	+		Prostate(94;0.0405)	5162			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15484G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142629	0.94560	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.07	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165223	0.42172	D	0.000760	T	0.37489	0.1005	N	0.20445	0.575	0.42943	D	0.994359	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.967	T	0.14282	-1.0478	10	0.30078	T	0.28	.	13.5425	0.61684	0.075:0.0:0.925:0.0	.	5162;5162	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	5162;5162;2796;2281	ENSP00000284548:D5162N;ENSP00000409493:D5162N;ENSP00000355668:D2796N;ENSP00000355670:D2281N	ENSP00000284548:D5162N	D	+	1	0	OBSCN	226577762	1.000000	0.71417	0.965000	0.40720	0.824000	0.46624	9.587000	0.98229	1.354000	0.45846	0.655000	0.94253	GAT		0.537	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228511261	228511261	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511261G>A	ENST00000422127.1	+	56	15650	c.15606G>A	c.(15604-15606)gaG>gaA	p.E5202E	OBSCN_ENST00000570156.2_Silent_p.E6159E|OBSCN_ENST00000366707.4_Silent_p.E2836E|OBSCN_ENST00000284548.11_Silent_p.E5202E|OBSCN_ENST00000366709.4_Silent_p.E2321E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5202	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGCCGAGAACAGCATGG	0.577																																						uc009xez.1																			0		p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15604-15606)gaG>gaA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							69.0	72.0	71.0					1																	228511261		2180	4277	6457	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511261G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15606G>A	1.37:g.228511261G>A						OBSCN_uc001hsn.3_Silent_p.E5202E	p.E5202E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15650	+		Prostate(94;0.0405)	5202			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15606G>A	CCDS58065.1																																																																																				0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
LHPP	64077	broad.mit.edu	37	10	126172716	126172716	+	Missense_Mutation	SNP	G	G	A	rs202090877		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr10:126172716G>A	ENST00000368842.5	+	2	162	c.134G>A	c.(133-135)cGt>cAt	p.R45H	LHPP_ENST00000368839.1_Missense_Mutation_p.R45H|LHPP_ENST00000392757.4_Missense_Mutation_p.R45H	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	45					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AGACTGAAGCGTTCCCGGCTG	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16760	0.0		0.0	False		,,,				2504	0.0				GBM(165;1980 2715 15999 18454)	uc001lhs.2																			0				large_intestine(2)|lung(2)	4						c.(133-135)cGt>cAt		Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.							31.0	32.0	32.0					10																	126172716		2203	4300	6503	SO:0001583	missense	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126172716G>A	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.134G>A	10.37:g.126172716G>A	ENSP00000357835:p.Arg45His					LHPP_uc001lht.2_Missense_Mutation_p.R45H|LHPP_uc009yai.2_Missense_Mutation_p.R45H	p.R45H	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	1	225	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	45					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	c.134G>A	CCDS7640.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.092	-0.186745	0.06340	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.30448	1.53;1.53;1.53	4.46	-1.72	0.08107	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	1.271540	0.05168	N	0.499118	T	0.26593	0.0650	L	0.46885	1.475	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.0;0.003	T	0.32955	-0.9887	10	0.45353	T	0.12	-6.6556	7.2956	0.26391	0.5147:0.1464:0.3389:0.0	.	45;45;45	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	H	45	ENSP00000376512:R45H;ENSP00000357835:R45H;ENSP00000357832:R45H	ENSP00000357832:R45H	R	+	2	0	LHPP	126162706	0.000000	0.05858	0.120000	0.21714	0.026000	0.11368	-1.707000	0.01893	-0.432000	0.07297	-0.157000	0.13467	CGT		0.617	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126	
RAG1	5896	broad.mit.edu	37	11	36596029	36596029	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:36596029G>T	ENST00000299440.5	+	2	1287	c.1175G>T	c.(1174-1176)gGg>gTg	p.G392V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	392					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATTAATAAAGGGGGCCGGCCC	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1174-1176)gGg>gTg		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							38.0	44.0	42.0					11																	36596029		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596029G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1175G>T	11.37:g.36596029G>T	ENSP00000299440:p.Gly392Val					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G392V	p.G392V	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	1175	+	all_lung(20;0.226)	all_hematologic(20;0.107)	392					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1175G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735911	0.69189	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74315	-0.83;-0.82	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88543	0.3111	10	0.87932	D	0	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	392	P15918	RAG1_HUMAN	V	392	ENSP00000434610:G392V;ENSP00000299440:G392V	ENSP00000299440:G392V	G	+	2	0	RAG1	36552605	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	GGG		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
TRIM51	84767	broad.mit.edu	37	11	55652963	55652963	+	Missense_Mutation	SNP	A	A	G	rs2063276	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:55652963A>G	ENST00000449290.2	+	2	151	c.59A>G	c.(58-60)aAc>aGc	p.N20S	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	20						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCTGCATGAACTACTTCCTA	0.502													N|||	3414	0.681709	0.6452	0.683	5008	,	,		18043	0.7649		0.6153	False		,,,				2504	0.7127					uc010rip.2																			0											c.(58-60)aAc>aGc		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.		A	SER/ASN	897,487		308,281,103	21.0	18.0	19.0		59	0.8	0.0	11	dbSNP_94	19	1962,1198		615,732,233	no	missense	SPRYD5	NM_032681.3	46	923,1013,336	GG,GA,AA		37.9114,35.1879,37.0819	possibly-damaging	20/453	55652963	2859,1685	692	1580	2272	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55652963A>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.59A>G	11.37:g.55652963A>G	ENSP00000395086:p.Asn20Ser					TRIM51_uc010riq.2_5'Flank	p.N20S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			1	151	+			20					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.59A>G		1411	0.6460622710622711	304	0.6178861788617886	235	0.649171270718232	421	0.736013986013986	451	0.5949868073878628	.	6.155	0.396776	0.11638	0.648121	0.620886	ENSG00000124900	ENST00000449290	D	0.83914	-1.78	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.00012	0.0000	N	0.16266	0.395	0.36627	P	0.12391600000000003	P	0.44429	0.835	P	0.49477	0.612	T	0.42155	-0.9468	8	0.59425	D	0.04	.	5.8508	0.18691	0.9999:0.0:1.0E-4:0.0	rs2063276	20	Q9BSJ1	SPRY5_HUMAN	S	20	ENSP00000395086:N20S	ENSP00000395086:N20S	N	+	2	0	SPRYD5	55409539	0.831000	0.29352	0.005000	0.12908	0.120000	0.20174	1.010000	0.29898	0.624000	0.30286	0.128000	0.15822	AAC		0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
MAP6	4135	broad.mit.edu	37	11	75316902	75316902	+	Missense_Mutation	SNP	C	C	T	rs201737872		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:75316902C>T	ENST00000304771.3	-	3	2017	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MAP6_ENST00000526740.1_Missense_Mutation_p.D94N|MAP6_ENST00000434603.2_Missense_Mutation_p.D423N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	423					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGCTCCTTGTCGTCTGGCTTG	0.542																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1267-1269)Gac>Aac		Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.							170.0	144.0	153.0					11																	75316902		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316902C>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1267G>A	11.37:g.75316902C>T	ENSP00000307093:p.Asp423Asn					MAP6_uc001owv.3_Missense_Mutation_p.D423N	p.D423N	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			2	1332	-	Ovarian(111;0.11)		423					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1267G>A	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002612	0.07819	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.51071	0.76;0.72	4.86	3.0	0.34707	.	0.397846	0.21756	N	0.069591	T	0.32526	0.0832	N	0.25380	0.74	0.26265	N	0.978517	B	0.19073	0.033	B	0.12837	0.008	T	0.17440	-1.0369	10	0.33940	T	0.23	-11.2056	10.5416	0.45037	0.0:0.841:0.0:0.159	.	423	Q96JE9	MAP6_HUMAN	N	423;94;94;423	ENSP00000307093:D423N;ENSP00000415108:D423N	ENSP00000307093:D423N	D	-	1	0	MAP6	74994550	0.993000	0.37304	0.678000	0.29963	0.309000	0.27889	3.082000	0.50128	0.778000	0.33520	-0.122000	0.15005	GAC		0.542	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063	
CLEC4C	170482	broad.mit.edu	37	12	7882275	7882280	+	In_Frame_Del	DEL	AACGGA	AACGGA	-	rs373258524		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:7882275_7882280delAACGGA	ENST00000542353.1	-	7	1044_1049	c.554_559delTCCGTT	c.(553-561)ttccgttct>tct	p.FR185del	CLEC4C_ENST00000360345.3_In_Frame_Del_p.FR185del|CLEC4C_ENST00000354629.5_In_Frame_Del_p.FR154del|CLEC4C_ENST00000540085.1_In_Frame_Del_p.FR154del	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	185	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTTCTGAAGAACGGAAATTTATTAT	0.398																																						uc001qtg.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(553-561)ttccgttct>tct		Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882275_7882280delAACGGA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.554_559delTCCGTT	12.37:g.7882275_7882280delAACGGA	ENSP00000440428:p.Phe185_Arg186del					CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del	p.FR185del	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	5	728_733	-			185			C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	In_Frame_Del	DEL	ENST00000542353.1	37	c.554_559delTCCGTT	CCDS8583.1																																																																																				0.398	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
TMBIM4	51643	broad.mit.edu	37	12	66547227	66547227	+	Splice_Site	SNP	G	G	A	rs184358735	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:66547227G>A	ENST00000358230.3	-	2	219	c.99C>T	c.(97-99)gcC>gcT	p.A33A	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Splice_Site_p.T80T|TMBIM4_ENST00000556010.1_Splice_Site_p.A33A|TMBIM4_ENST00000398033.4_Splice_Site_p.A33A|TMBIM4_ENST00000542724.1_Intron|TMBIM4_ENST00000539652.1_Splice_Site_p.A33A	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	33					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TTCTCAGAAAGGCTAAAAGAG	0.289													G|||	3	0.000599042	0.0	0.0014	5008	,	,		15523	0.0		0.002	False		,,,				2504	0.0					uc009zqr.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.e3-1		Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.		G		2,3602		0,2,1800	57.0	53.0	54.0		99	2.3	1.0	12		54	14,8100		0,14,4043	yes	coding-synonymous-near-splice	TMBIM4	NM_016056.2		0,16,5843	AA,AG,GG		0.1725,0.0555,0.1365		33/239	66547227	16,11702	1802	4057	5859	SO:0001630	splice_region_variant	51643					integral to membrane	protein binding	g.chr12:66547227G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.98-1C>T	12.37:g.66547227G>A						LLPH_uc010ssx.2_Splice_Site|TMBIM4_uc001stc.3_Splice_Site_p.A33_splice|TMBIM4_uc001std.3_Intron|TMBIM4_uc001stf.3_Splice_Site_p.A33_splice|TMBIM4_uc009zqs.3_Splice_Site_p.A33_splice	p.T80_splice	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	3	315	-			33					Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	ENST00000358230.3	37	c.239_splice	CCDS41805.1																																																																																				0.289	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	Silent
WDFY2	115825	broad.mit.edu	37	13	52234797	52234797	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr13:52234797C>G	ENST00000298125.5	+	2	383	c.203C>G	c.(202-204)cCt>cGt	p.P68R		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	68							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATGCAATGCCTTGTAAGTAT	0.403																																						uc001vfp.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(202-204)cCt>cGt		Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.							208.0	172.0	184.0					13																	52234797		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52234797C>G	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.203C>G	13.37:g.52234797C>G	ENSP00000298125:p.Pro68Arg					WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_Non-coding_Transcript	p.P68R	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	1	543	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	68					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.203C>G	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663043	0.67700	.	.	ENSG00000139668	ENST00000298125	T	0.66460	-0.21	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.140170	0.64402	D	0.000003	T	0.65491	0.2696	M	0.76170	2.325	0.80722	D	1	P	0.44877	0.845	B	0.37346	0.247	T	0.68187	-0.5475	10	0.36615	T	0.2	-6.9993	15.4727	0.75453	0.0:1.0:0.0:0.0	.	68	Q96P53	WDFY2_HUMAN	R	68	ENSP00000298125:P68R	ENSP00000298125:P68R	P	+	2	0	WDFY2	51132798	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.193000	0.58385	2.724000	0.93272	0.557000	0.71058	CCT		0.403	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950	
DICER1	23405	broad.mit.edu	37	14	95560476	95560476	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95560476C>G	ENST00000526495.1	-	26	5404	c.5113G>C	c.(5113-5115)Gaa>Caa	p.E1705Q	DICER1_ENST00000393063.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000556045.1_Missense_Mutation_p.E603Q|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000527414.1_Missense_Mutation_p.E1705Q|DICER1_ENST00000343455.3_Missense_Mutation_p.E1705Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1705	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> K (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCCAGGAATTCTAAGCGCTGG	0.527			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5113-5115)Gaa>Caa		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							64.0	68.0	67.0					14																	95560476		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560476C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5113G>C	14.37:g.95560476C>G	ENSP00000437256:p.Glu1705Gln					DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc021sbc.1_Missense_Mutation_p.E1705Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	p.E1705Q	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	5325	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1705			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5113G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099852	0.94197	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.99564	1.0969	10	0.87932	D	0	-26.2861	19.2735	0.94021	0.0:1.0:0.0:0.0	.	603;1705	B3KRG4;Q9UPY3	.;DICER_HUMAN	Q	1705;1705;1705;1705;603;1705	ENSP00000343745:E1705Q;ENSP00000437256:E1705Q;ENSP00000376783:E1705Q;ENSP00000435681:E1705Q;ENSP00000451041:E603Q;ENSP00000444719:E1705Q	ENSP00000343745:E1705Q	E	-	1	0	DICER1	94630229	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAA		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
DICER1	23405	broad.mit.edu	37	14	95571502	95571519	+	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC	-			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	ENST00000526495.1	-	22	3449_3466	c.3158_3175delGTCTCCCCAGCATACTTT	c.(3157-3177)tgtctccccagcatactttat>tat	p.CLPSIL1053del	DICER1_ENST00000393063.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000527414.1_In_Frame_Del_p.CLPSIL1053del|DICER1_ENST00000343455.3_In_Frame_Del_p.CLPSIL1053del			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1053					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAAGGCGATAAAGTATGCTGGGGAGACAAACAGCTTT	0.472			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3157-3177)tgtctccccagcatactttat>tat		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3158_3175delGTCTCCCCAGCATACTTT	14.37:g.95571502_95571519delAAAGTATGCTGGGGAGAC	ENSP00000437256:p.Cys1053_Leu1058del					DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_In_Frame_Del_p.CLPSIL335del	p.CLPSIL1053del	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3370_3387	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1053					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	In_Frame_Del	DEL	ENST00000526495.1	37	c.3158_3175delGTCTCCCCAGCATACTTT	CCDS9931.1																																																																																				0.472	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
ITGAD	3681	broad.mit.edu	37	16	31422097	31422097	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr16:31422097C>A	ENST00000389202.2	+	12	1303	c.1254C>A	c.(1252-1254)aaC>aaA	p.N418K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	418					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGTACAGAACCTGGTCCTGG	0.647																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1252-1254)aaC>aaA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							33.0	35.0	34.0					16																	31422097		2197	4299	6496	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422097C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1254C>A	16.37:g.31422097C>A	ENSP00000373854:p.Asn418Lys					ITGAD_uc002ebv.1_Missense_Mutation_p.N418K	p.N418K	NM_005353	NP_005344	Q13349	ITAD_HUMAN			11	1303	+			418					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1254C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	2.721	-0.266499	0.05754	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.21361	2.01	4.4	2.13	0.27403	.	.	.	.	.	T	0.11665	0.0284	N	0.20685	0.6	0.09310	N	0.999999	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.35001	-0.9806	9	0.14656	T	0.56	.	8.0656	0.30659	0.1686:0.7292:0.0:0.1022	.	434;418	Q59H14;Q13349	.;ITAD_HUMAN	K	434;418	ENSP00000373854:N418K	ENSP00000373854:N418K	N	+	3	2	ITGAD	31329598	0.191000	0.23288	0.966000	0.40874	0.019000	0.09904	0.516000	0.22817	0.824000	0.34613	0.197000	0.17608	AAC		0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
TP53	7157	broad.mit.edu	37	17	7578456	7578467	+	In_Frame_Del	DEL	GCGGACGCGGGT	GCGGACGCGGGT	-	rs371524413|rs139200646|rs563378859|rs587780068|rs121912654|rs587782144	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:7578456_7578467delGCGGACGCGGGT	ENST00000269305.4	-	5	652_663	c.463_474delACCCGCGTCCGC	c.(463-474)acccgcgtccgcdel	p.TRVR155del	TP53_ENST00000420246.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000445888.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000455263.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000359597.4_In_Frame_Del_p.TRVR155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVR155del|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.R158L(77)|p.R158H(74)|p.R156P(24)|p.T155N(22)|p.R158C(17)|p.T155P(17)|p.R158G(16)|p.T155I(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.T155A(10)|p.R158P(9)|p.V157D(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.R26H(5)|p.T155T(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.R158_A159insX(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R26fs(2)|p.R156C(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.T155S(2)|p.R65G(2)|p.R158_A159delRA(2)|p.V157fs*22(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.R156_V157del(1)|p.A159fs*11(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.V157_R158delVR(1)|p.R156fs*20(1)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.R156_V157insV(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.T62I(1)|p.R65fs*11(1)|p.T155fs*15(1)|p.T155_A161delTRVRAMA(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R156_R158delRVR(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156delTR(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.R156_A161del(1)|p.V157fs*23(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCATGGCGCGGACGCGGGTGCCGGGCGGG	0.623		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		679	Substitution - Missense(547)|Deletion - Frameshift(54)|Deletion - In frame(20)|Substitution - coding silent(19)|Complex(10)|Insertion - Frameshift(8)|Whole gene deletion(8)|Insertion - In frame(6)|Unknown(5)|Complex - frameshift(2)	p.V157F(312)|p.R158H(140)|p.R158L(138)|p.R156P(48)|p.T155N(42)|p.G154V(41)|p.R158C(34)|p.T155P(33)|p.R158G(28)|p.T155I(26)|p.R156fs*14(22)|p.V157I(20)|p.R156H(20)|p.T155A(18)|p.R158P(18)|p.V157D(16)|p.V157G(14)|p.V157L(12)|p.R158fs*12(12)|p.G154G(12)|p.R158R(12)|p.V157V(10)|p.T155T(10)|p.R158fs*11(9)|p.G154S(9)|p.R158_A159insX(8)|p.R26L(8)|p.R65L(8)|p.R158fs(8)|p.0?(8)|p.V25F(6)|p.R156S(6)|p.R156R(6)|p.R156fs*25(6)|p.R156G(6)|p.R156L(6)|p.G154D(6)|p.V64F(6)|p.V157fs*13(6)|p.R26H(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.T155fs*23(4)|p.V157del(4)|p.V157fs*9(4)|p.R156C(4)|p.G154fs*14(4)|p.R156_I162delRVRAMAI(4)|p.T155S(4)|p.R158_A159delRA(4)|p.V157fs*22(4)|p.V157fs*24(4)|p.G154I(3)|p.G154fs*27(3)|p.R65fs(2)|p.R156_V157del(2)|p.V157A(2)|p.G154_R156delGTR(2)|p.T155fs*25(2)|p.V157_R158delVR(2)|p.R156fs*20(2)|p.R26fs(2)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.R156del(2)|p.G154fs*16(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.G154C(2)|p.D148_T155delDSTPPPGT(2)|p.R156_V157insV(2)|p.V157_M160delVRAM(2)|p.T155fs*15(2)|p.T155_A161delTRVRAMA(2)|p.V157_I162delVRAMAI(2)|p.R26G(2)|p.V157fs*21(2)|p.V157fs*25(2)|p.R158fs*24(2)|p.T155fs*26(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.T155_R156delTR(2)|p.R158fs*8(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*23(2)|p.R158F(2)|p.R158_A159insXX(2)|p.G154fs*22(2)|p.A159fs*11(1)|p.Q144_G154del11(1)|p.R156fs*?(1)|p.R26fs*11(1)|p.T62P(1)|p.G154A(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.R65fs*11(1)|p.P153_G154insX(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.D148fs*23(1)|p.R158_A161del(1)	lung(192)|upper_aerodigestive_tract(62)|oesophagus(52)|central_nervous_system(50)|breast(47)|large_intestine(43)|haematopoietic_and_lymphoid_tissue(38)|liver(38)|ovary(30)|urinary_tract(23)|stomach(22)|skin(17)|prostate(12)|kidney(10)|soft_tissue(9)|pancreas(7)|bone(7)|biliary_tract(6)|vulva(5)|endometrium(2)|thyroid(2)|thymus(2)|genital_tract(1)|adrenal_gland(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004341|CM942117|CM984589|CM994513	TP53	M		c.(463-474)acccgcgtccgcdel	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578456_7578467delGCGGACGCGGGT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.463_474delACCCGCGTCCGC	17.37:g.7578456_7578467delGCGGACGCGGGT	ENSP00000269305:p.Thr155_Arg158del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.3_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.2_In_Frame_Del_p.TRVR116del	p.TRVR155del	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	657_668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.463_474delACCCGCGTCCGC	CCDS11118.1																																																																																				0.623	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
EVI2B	2124	broad.mit.edu	37	17	29631684	29631684	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29631684C>G	ENST00000330927.4	-	2	1098	c.944G>C	c.(943-945)gGt>gCt	p.G315A	EVI2B_ENST00000577894.1_Missense_Mutation_p.G315A|EVI2B_ENST00000544462.1_Missense_Mutation_p.G330A|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	315						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCTGATGTACCATTTACTTG	0.388																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(988-990)gGt>gCt		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							196.0	155.0	169.0					17																	29631684		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631684C>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.944G>C	17.37:g.29631684C>G	ENSP00000333779:p.Gly315Ala					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.G315A|EVI2B_uc021tuk.1_Missense_Mutation_p.G315A	p.G330A	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1172	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	315					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.989G>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560080	0.45590	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.57273	0.42;0.41	5.64	3.48	0.39840	.	0.313649	0.23463	N	0.047902	T	0.56731	0.2005	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.969	T	0.54132	-0.8339	10	0.48119	T	0.1	-22.6176	9.3864	0.38345	0.0:0.7714:0.1462:0.0824	.	330;315	B7Z4A7;P34910	.;EVI2B_HUMAN	A	315;330	ENSP00000333779:G315A;ENSP00000439738:G330A	ENSP00000333779:G315A	G	-	2	0	EVI2B	26655810	0.722000	0.28017	0.993000	0.49108	0.615000	0.37417	0.324000	0.19610	2.660000	0.90430	0.655000	0.94253	GGT		0.388	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
NF1	4763	broad.mit.edu	37	17	29653042	29653043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29653042_29653043insA	ENST00000358273.4	+	37	5423_5424	c.5040_5041insA	c.(5041-5043)aacfs	p.N1681fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.N1660fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1681	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTATATCTATAACTGTAACTC	0.46			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5038-5043)tataacfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653042_29653043insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5042dupA	17.37:g.29653044_29653044dupA	ENSP00000351015:p.Asn1681fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.3_5'UTR	p.Y1680fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	36	5423_5424	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1680			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5040_5041insA	CCDS42292.1																																																																																				0.460	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
GAS2L2	246176	broad.mit.edu	37	17	34073121	34073121	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:34073121G>A	ENST00000254466.6	-	6	1422	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	GAS2L2_ENST00000587565.1_Silent_p.A449A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCACTCGGCTGGGCCAA	0.622																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1393-1395)gcC>gcT		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							97.0	110.0	106.0					17																	34073121		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073121G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1395C>T	17.37:g.34073121G>A							p.A465A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1423	-		Ovarian(249;0.17)	465					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1395C>T	CCDS11298.1																																																																																				0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
ACACA	31	broad.mit.edu	37	17	35444255	35444255	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:35444255G>A	ENST00000394406.2	-	56	7227	c.7037C>T	c.(7036-7038)aCg>aTg	p.T2346M	ACACA_ENST00000360679.3_Missense_Mutation_p.T2288M|ACACA_ENST00000361253.5_Missense_Mutation_p.T472M|ACACA_ENST00000353139.5_Missense_Mutation_p.T2383M|ACACA_ENST00000335166.5_Missense_Mutation_p.T2268M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2346					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCTTCCTACGTGGAAGGGGA	0.517																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(7036-7038)aCg>aTg		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						170.0	118.0	135.0					17																	35444255		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35444255G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.7037C>T	17.37:g.35444255G>A	ENSP00000377928:p.Thr2346Met					ACACA_uc002hnk.3_Missense_Mutation_p.T2268M|ACACA_uc002hnl.3_Missense_Mutation_p.T2288M|ACACA_uc002hnn.3_Missense_Mutation_p.T2346M|ACACA_uc002hno.3_Missense_Mutation_p.T2383M|ACACA_uc010cuy.3_Missense_Mutation_p.T991M|ACACA_uc010wdb.2_Missense_Mutation_p.T384M|ACACA_uc010wdc.2_Missense_Mutation_p.T472M	p.T2346M	NM_198836	NP_942135	Q13085	ACACA_HUMAN			55	7228	-		Breast(25;0.00157)|Ovarian(249;0.15)	2346					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.7037C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005652	0.74932	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;T	0.95238	-3.65;-3.65;-3.64;-3.64;-0.41	5.82	5.82	0.92795	.	0.228496	0.46145	D	0.000313	D	0.93497	0.7925	N	0.22421	0.69	0.80722	D	1	D;P;D;P;P	0.56521	0.963;0.947;0.976;0.739;0.917	P;P;P;P;P	0.51945	0.609;0.681;0.685;0.487;0.685	D	0.94246	0.7489	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	384;1045;2383;2346;2288	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	M	2383;2288;2346;2370;2268;1045;472	ENSP00000344789:T2383M;ENSP00000353898:T2288M;ENSP00000377928:T2346M;ENSP00000335323:T2268M;ENSP00000354565:T472M	ENSP00000335323:T2268M	T	-	2	0	ACACA	32518368	1.000000	0.71417	0.620000	0.29132	0.062000	0.15995	7.611000	0.82962	2.757000	0.94681	0.655000	0.94253	ACG		0.517	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
FADS6	283985	broad.mit.edu	37	17	72875610	72875610	+	Missense_Mutation	SNP	G	G	C	rs531632048		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:72875610G>C	ENST00000310226.6	-	5	844	c.830C>G	c.(829-831)gCg>gGg	p.A277G		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	283					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGGCCGAACGCCCAGTCCAG	0.612																																						uc002jmd.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(829-831)gCg>gGg		Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.							53.0	58.0	56.0					17																	72875610		2040	4188	6228	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72875610G>C	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.830C>G	17.37:g.72875610G>C	ENSP00000307821:p.Ala277Gly					FADS6_uc010wrn.1_Missense_Mutation_p.A131G	p.A277G	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			4	842	-	all_lung(278;0.172)|Lung NSC(278;0.207)		283					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.830C>G	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541253	0.45280	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.18174	2.23	5.54	4.58	0.56647	Fatty acid desaturase, type 1 (1);	0.393157	0.28198	N	0.016240	T	0.19525	0.0469	L	0.51422	1.61	0.23773	N	0.996888	P;P	0.48503	0.911;0.911	P;B	0.46172	0.506;0.306	T	0.08617	-1.0713	10	0.22109	T	0.4	-11.2246	11.2631	0.49095	0.0698:0.1274:0.8028:0.0	.	131;283	B4DEP0;Q8N9I5	.;FADS6_HUMAN	G	277;131	ENSP00000307821:A277G	ENSP00000307821:A277G	A	-	2	0	FADS6	70387205	1.000000	0.71417	0.916000	0.36221	0.976000	0.68499	3.223000	0.51231	1.326000	0.45319	0.655000	0.94253	GCG		0.612	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1		
KLK15	55554	broad.mit.edu	37	19	51330190	51330190	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr19:51330190C>A	ENST00000598239.1	-	3	455	c.425G>T	c.(424-426)gGc>gTc	p.G142V	KLK15_ENST00000301421.2_Missense_Mutation_p.G142V|KLK15_ENST00000326856.4_Missense_Mutation_p.G141V|KLK15_ENST00000596931.1_Missense_Mutation_p.G141V|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	142	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGCCCCAGCCAGACACCAC	0.692																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(424-426)gGc>gTc		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							26.0	29.0	28.0					19																	51330190		2203	4299	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330190C>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.425G>T	19.37:g.51330190C>A	ENSP00000469315:p.Gly142Val					KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.G142V|KLK15_uc002pto.3_Missense_Mutation_p.G141V|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.G141V|KLK15_uc010eod.3_Non-coding_Transcript	p.G142V	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	2	456	-		all_neural(266;0.057)	142			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.425G>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.604122	0.87157	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.99548	-6.14	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000228	D	0.99792	0.9912	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96907	0.9664	10	0.87932	D	0	.	12.6389	0.56698	0.0:1.0:0.0:0.0	.	142;141;142	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	V	142	ENSP00000301421:G142V	ENSP00000301421:G142V	G	-	2	0	KLK15	56022002	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.454000	0.66651	2.454000	0.82982	0.555000	0.69702	GGC		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
HOXD8	3234	broad.mit.edu	37	2	176996300	176996301	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr2:176996300_176996301delAA	ENST00000313173.4	+	2	1460_1461	c.833_834delAA	c.(832-834)caafs	p.Q278fs	HOXD8_ENST00000548663.1_Frame_Shift_Del_p.Q174fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.Q277fs|HOXD8_ENST00000429017.1_Frame_Shift_Del_p.Q94fs|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.Q277fs|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	278					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGAAGCCCAAGAGCTGGAGG	0.426																																						uc002uko.3																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(832-834)caafs		Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996300_176996301delAA		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.833_834delAA	2.37:g.176996300_176996301delAA	ENSP00000315949:p.Gln278fs					AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.Q277fs	p.Q278fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	1460_1461	+			278					F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	ENST00000313173.4	37	c.833_834delAA	CCDS2268.1																																																																																				0.426	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1		
CD93	22918	broad.mit.edu	37	20	23065723	23065723	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:23065723G>A	ENST00000246006.4	-	1	1254	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	369	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCAACCCAGCATTCGCAGC	0.642																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1105-1107)tgC>tgT		Homo sapiens CD93 molecule (CD93), mRNA.							39.0	41.0	40.0					20																	23065723		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065723G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1107C>T	20.37:g.23065723G>A							p.C369C	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1255	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		369			EGF-like 3; calcium-binding (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.1107C>T	CCDS13149.1																																																																																				0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
MANBAL	63905	broad.mit.edu	37	20	35944753	35944753	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:35944753A>G	ENST00000373605.3	+	4	1005	c.193A>G	c.(193-195)Aag>Gag	p.K65E	MANBAL_ENST00000397152.3_Missense_Mutation_p.K65E|MANBAL_ENST00000397150.1_3'UTR|MANBAL_ENST00000397151.1_Missense_Mutation_p.K65E|MANBAL_ENST00000397156.3_Missense_Mutation_p.K65E|MANBAL_ENST00000373606.3_Missense_Mutation_p.K65E			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	65						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GGTGACGAGGAAGCCCAAGGC	0.552																																						uc002xgu.3																			0				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(193-195)Aag>Gag		Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.							67.0	65.0	65.0					20																	35944753		2203	4300	6503	SO:0001583	missense	63905					integral to membrane		g.chr20:35944753A>G		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.193A>G	20.37:g.35944753A>G	ENSP00000362707:p.Lys65Glu					MANBAL_uc002xgv.3_Missense_Mutation_p.K65E|MANBAL_uc002xgw.3_Non-coding_Transcript	p.K65E	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			3	405	+		Myeloproliferative disorder(115;0.00878)	65					A8KAA6|E1P5V3	Missense_Mutation	SNP	ENST00000373605.3	37	c.193A>G	CCDS13293.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434179	0.43224	.	.	ENSG00000101363	ENST00000373606;ENST00000397156;ENST00000397152;ENST00000373605;ENST00000397151	.	.	.	4.97	4.97	0.65823	.	0.088897	0.85682	D	0.000000	T	0.53270	0.1786	.	.	.	0.45822	D	0.998699	B	0.29936	0.262	B	0.35727	0.209	T	0.57590	-0.7785	8	0.66056	D	0.02	-23.9135	10.9668	0.47416	1.0:0.0:0.0:0.0	.	65	Q9NQG1	MANBL_HUMAN	E	65	.	ENSP00000362707:K65E	K	+	1	0	MANBAL	35378167	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	4.599000	0.61076	2.096000	0.63516	0.533000	0.62120	AAG		0.552	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077	
PI4KAP2	375133	broad.mit.edu	37	22	21837349	21837351	+	RNA	DEL	CTT	CTT	-	rs561905997	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr22:21837349_21837351delCTT	ENST00000450651.1	-	0	1062_1064							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						ACAGACAAGCCTTCTTTCTCTCG	0.616														135	0.0269569	0.0991	0.0058	5008	,	,		12874	0.0		0.0	False		,,,				2504	0.0					uc002zuv.4																			0				endometrium(3)|urinary_tract(1)	4						c.(676-678)aagdel		Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.				401,3219		31,339,1440						2.5	1.0			29	2,6498		0,2,3248	no	intergenic				31,341,4688	A1A1,A1R,RR		0.0308,11.0773,3.9822				403,9717						375133							g.chr22:21837349_21837351delCTT			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21837352_21837354delCTT						PI4KAP2_uc002zuw.3_Non-coding_Transcript|PI4KAP2_uc011aid.2_Non-coding_Transcript|PI4KAP2_uc011aie.1_In_Frame_Del_p.K226del|PI4KAP2_uc011aif.1_5'UTR|PI4KAP2_uc002zux.2_In_Frame_Del_p.K226del	p.K226del							5	2935_2937	-								Q6ICJ0|Q6ZT68|Q8WUK7	In_Frame_Del	DEL	ENST00000450651.1	37	c.676_678delAAG																																																																																					0.616	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1		
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582																																						uc003dpp.4																			2	Substitution - coding silent(2)	p.V229V(2)	urinary_tract(1)|prostate(1)								c.(433-435)gtA>gtC		Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																																						692099							g.chr3:75476630T>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476630T>G						FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.V53V|FAM86DP_uc003dpr.4_Intron	p.V145V							5	794	-									Silent	SNP	ENST00000459803.1	37	c.435A>C																																																																																					0.582	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241	
TMPRSS7	344805	broad.mit.edu	37	3	111766626	111766626	+	Silent	SNP	T	T	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:111766626T>G	ENST00000452346.2	+	7	774	c.771T>G	c.(769-771)tcT>tcG	p.S257S	TMPRSS7_ENST00000419127.1_Silent_p.S131S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	257	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTGTCTCTCCACTACC	0.448																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(391-393)tcT>tcG		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							62.0	60.0	61.0					3																	111766626		1919	4135	6054	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766626T>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.771T>G	3.37:g.111766626T>G						TMPRSS7_uc011bhr.1_5'UTR	p.S131S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			4	563	+			257					C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.393T>G																																																																																					0.448	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
MUC20	200958	broad.mit.edu	37	3	195456549	195456549	+	Missense_Mutation	SNP	T	T	C	rs201857816	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:195456549T>C	ENST00000447234.2	+	3	2126	c.2000T>C	c.(1999-2001)cTg>cCg	p.L667P	MUC20_ENST00000445522.2_Missense_Mutation_p.L632P|MUC20_ENST00000436408.1_Missense_Mutation_p.L667P|MUC20_ENST00000320736.6_Missense_Mutation_p.L496P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	667	Interaction with MET.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCCTGCGGCTGAGTGTGGCT	0.577													.|||	18	0.00359425	0.0136	0.0	5008	,	,		29066	0.0		0.0	False		,,,				2504	0.0					uc010hzo.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1486-1488)cTg>cCg		Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.			PRO/LEU,PRO/LEU	22,3968		0,22,1973	50.0	48.0	49.0		1382,1487	4.6	1.0	3		49	0,8354		0,0,4177	yes	missense,missense	MUC20	NM_001098516.1,NM_152673.2	98,98	0,22,6150	CC,CT,TT		0.0,0.5514,0.1782	probably-damaging,probably-damaging	461/504,496/539	195456549	22,12322	1995	4177	6172	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195456549T>C	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.2000T>C	3.37:g.195456549T>C	ENSP00000414350:p.Leu667Pro					MUC20_uc010hzp.3_Missense_Mutation_p.L461P	p.L496P	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1613	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	667	V -> I (in Ref. 5; AAH29267).	Missing.	Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1487T>C		.	.	.	.	.	.	.	.	.	.	T	14.72	2.618589	0.46736	0.005514	0.0	ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.44083	1.44;1.76;1.47;0.93	4.63	4.63	0.57726	.	0.000000	0.32258	N	0.006354	T	0.44808	0.1311	L	0.39245	1.2	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.51513	-0.8696	10	0.66056	D	0.02	-6.0446	10.3989	0.44218	0.0:0.0:0.0:1.0	.	496	E9PH32	.	P	478;667;496;667;632	ENSP00000414350:L667P;ENSP00000325431:L496P;ENSP00000396774:L667P;ENSP00000405629:L632P	ENSP00000325431:L496P	L	+	2	0	MUC20	196942220	0.750000	0.28316	0.986000	0.45419	0.443000	0.32047	3.128000	0.50492	1.943000	0.56356	0.456000	0.33151	CTG		0.577	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
ATP5I	521	broad.mit.edu	37	4	666298	666298	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:666298T>C	ENST00000304312.4	-	4	291	c.201A>G	c.(199-201)atA>atG	p.I67M	MYL5_ENST00000506838.1_5'Flank|MYL5_ENST00000511290.1_5'Flank|MYL5_ENST00000505477.1_5'Flank|ATP5I_ENST00000506525.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	67					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						CTCACTTTAATATGCTGTCAT	0.458																																						uc003gas.3																			0				lung(1)|skin(1)	2						c.(199-201)atA>atG		Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							106.0	101.0	103.0					4																	666298		2203	4300	6503	SO:0001583	missense	521				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr4:666298T>C	AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	846	protein-coding gene	gene with protein product		601519	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"""			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.201A>G	4.37:g.666298T>C	ENSP00000306003:p.Ile67Met					ATP5I_uc003gar.3_Non-coding_Transcript|ATP5I_uc021xkb.1_Non-coding_Transcript|MYL5_uc003gat.3_5'Flank|MYL5_uc003gau.3_5'Flank	p.I67M	NM_007100	NP_009031	P56385	ATP5I_HUMAN			3	292	-			67					Q0D2L9	Missense_Mutation	SNP	ENST00000304312.4	37	c.201A>G	CCDS3337.1	.	.	.	.	.	.	.	.	.	.	T	9.747	1.166432	0.21621	.	.	ENSG00000169020	ENST00000304312	.	.	.	4.39	-8.78	0.00824	.	0.063272	0.64402	U	0.000015	T	0.55721	0.1938	.	.	.	0.23602	N	0.997319	D	0.63880	0.993	D	0.64776	0.929	T	0.66408	-0.5931	8	0.87932	D	0	-9.0664	12.2411	0.54541	0.1032:0.0:0.7091:0.1877	.	67	P56385	ATP5I_HUMAN	M	67	.	ENSP00000306003:I67M	I	-	3	3	ATP5I	656298	0.023000	0.18921	0.001000	0.08648	0.038000	0.13279	-0.633000	0.05483	-2.326000	0.00637	-0.438000	0.05819	ATA		0.458	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195856.2		
ATP10D	57205	broad.mit.edu	37	4	47538903	47538903	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:47538903G>T	ENST00000273859.3	+	9	1613	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ATP10D_ENST00000504445.1_Missense_Mutation_p.M433I	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	448					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAATAAGATGGTTTTTCGAA	0.433																																						uc003gxk.1																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1342-1344)atG>atT		Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.							67.0	64.0	65.0					4																	47538903		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538903G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1344G>T	4.37:g.47538903G>T	ENSP00000273859:p.Met448Ile					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	p.M448I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			8	1508	+			448					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1344G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891594	0.91889	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.67523	-0.27;-0.27	5.38	5.38	0.77491	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.84846	2.72	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86618	0.1877	10	0.87932	D	0	-27.6047	18.1203	0.89569	0.0:0.0:1.0:0.0	.	448;433	Q9P241;Q6PEW3	AT10D_HUMAN;.	I	448;433	ENSP00000273859:M448I;ENSP00000420909:M433I	ENSP00000273859:M448I	M	+	3	0	ATP10D	47233660	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.535000	0.85469	0.650000	0.86243	ATG		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
SPDL1	54908	broad.mit.edu	37	5	169031191	169031191	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr5:169031191A>G	ENST00000265295.4	+	12	2077	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TACTCCAGAGACCCAGTGCCC	0.358																																						uc003mae.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25						c.(1798-1800)Acc>Gcc		Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.							78.0	83.0	81.0					5																	169031191		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169031191A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1798A>G	5.37:g.169031191A>G	ENSP00000265295:p.Thr600Ala					CCDC99_uc011deq.2_Missense_Mutation_p.T417A|CCDC99_uc010jjk.3_Missense_Mutation_p.T326A	p.T600A	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2077	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	600						Missense_Mutation	SNP	ENST00000265295.4	37	c.1798A>G	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614625	0.46631	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.39787	1.06	5.9	3.52	0.40303	.	0.070729	0.64402	D	0.000018	T	0.53834	0.1821	M	0.63843	1.955	0.37325	D	0.909705	D;P	0.65815	0.995;0.513	P;B	0.61800	0.894;0.147	T	0.55528	-0.8127	10	0.33940	T	0.23	-1.2523	10.1923	0.43035	0.8663:0.0:0.1337:0.0	.	522;600	B4E393;Q96EA4	.;SPDLY_HUMAN	A	600;501	ENSP00000265295:T600A	ENSP00000265295:T600A	T	+	1	0	CCDC99	168963769	1.000000	0.71417	0.891000	0.34965	0.976000	0.68499	4.135000	0.57997	0.490000	0.27771	0.528000	0.53228	ACC		0.358	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
COL19A1	1310	broad.mit.edu	37	6	70916651	70916651	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr6:70916651G>A	ENST00000322773.4	+	50	3372	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L	COL19A1_ENST00000393344.1_Silent_p.L712L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1090	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATTGGGCTGCCAGGGAGTC	0.458																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(3268-3270)ctG>ctA		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							85.0	80.0	82.0					6																	70916651		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70916651G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3270G>A	6.37:g.70916651G>A							p.L1090L	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3387	+			1090			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.3270G>A	CCDS4970.1																																																																																				0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
SDK1	221935	broad.mit.edu	37	7	4153059	4153059	+	Silent	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:4153059G>T	ENST00000404826.2	+	24	3712	c.3573G>T	c.(3571-3573)cgG>cgT	p.R1191R	SDK1_ENST00000389531.3_Silent_p.R1191R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGCGGCTTCGCTGGG	0.637																																						uc003smx.3																			0		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3571-3573)cgG>cgT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							77.0	82.0	81.0					7																	4153059		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4153059G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3573G>T	7.37:g.4153059G>T						SDK1_uc010kso.3_Silent_p.R467R	p.R1191R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	23	3712	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1191			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3573G>T	CCDS34590.1																																																																																				0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
Unknown	0	broad.mit.edu	37	7	28319007	28319007	+	IGR	SNP	T	T	A	rs177483	byFrequency	TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:28319007T>A								JAZF1-AS1 (35471 upstream) : CREB5 (19932 downstream)																							TTGTGTTGGGTCCAGAATTTG	0.463													T|||	1911	0.381589	0.1611	0.3775	5008	,	,		22160	0.7024		0.3072	False		,,,				2504	0.4284																								0															T		266,1118		25,216,451	39.0	37.0	38.0			-1.2	0.1	7	dbSNP_79	38	880,2302		120,640,831	no	intergenic				145,856,1282	AA,AT,TT		27.6556,19.2197,25.0986			28319007	1146,3420	692	1591	2283	SO:0001628	intergenic_variant	402644							g.chr7:28319007T>A																													7.37:g.28319007T>A						JAZF1-AS1 (38011 upstream) : CREB5 (19933 downstream)																			Silent	SNP		37																																																																																					0	0.463								
KBTBD2	25948	broad.mit.edu	37	7	32909138	32909138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:32909138C>T	ENST00000304056.4	-	4	2390	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	564										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TATATGCTGCCGCAGAGACCA	0.463																																						uc003tdb.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1690-1692)cGg>cAg		Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.							143.0	132.0	136.0					7																	32909138		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909138C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1691G>A	7.37:g.32909138C>T	ENSP00000302586:p.Arg564Gln					AVL9_uc011kai.2_Intron	p.R564Q	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		3	2350	-			564					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1691G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078084	0.76528	.	.	ENSG00000170852	ENST00000304056	T	0.66280	-0.2	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	N	0.24115	0.695	0.52501	D	0.999959	D	0.63880	0.993	B	0.44108	0.441	T	0.58352	-0.7651	10	0.46703	T	0.11	.	19.1951	0.93684	0.0:1.0:0.0:0.0	.	564	Q8IY47	KBTB2_HUMAN	Q	564	ENSP00000302586:R564Q	ENSP00000302586:R564Q	R	-	2	0	KBTBD2	32875663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.552000	0.86080	0.591000	0.81541	CGG		0.463	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224	
ELN	2006	broad.mit.edu	37	7	73474491	73474491	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:73474491A>G	ENST00000252034.7	+	24	1997	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R	ELN_ENST00000320492.7_Missense_Mutation_p.K452R|ELN_ENST00000358929.4_Missense_Mutation_p.K568R|ELN_ENST00000380576.5_Missense_Mutation_p.K514R|ELN_ENST00000380584.4_Intron|ELN_ENST00000458204.1_Missense_Mutation_p.K523R|ELN_ENST00000357036.5_Missense_Mutation_p.K538R|ELN_ENST00000380553.4_Missense_Mutation_p.K397R|ELN_ENST00000445912.1_Missense_Mutation_p.K533R|ELN_ENST00000380575.4_Missense_Mutation_p.K504R|ELN_ENST00000380562.4_Missense_Mutation_p.K539R|ELN_ENST00000429192.1_Missense_Mutation_p.K519R|ELN_ENST00000320399.6_Missense_Mutation_p.K533R|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.K509R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCGCTGCCAAGGTGGCTGCC	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.3				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0		p.Q539Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1615-1617)aAg>aGg		Homo sapiens elastin (ELN), transcript variant 1, mRNA.	Rofecoxib(DB00533)						80.0	87.0	85.0					7																	73474491		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474491A>G		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1598A>G	7.37:g.73474491A>G	ENSP00000252034:p.Lys533Arg					ELN_uc003tzn.3_Missense_Mutation_p.K533R|ELN_uc003tzy.3_Missense_Mutation_p.K509R|ELN_uc003tzz.3_Missense_Mutation_p.K452R|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Missense_Mutation_p.K444R|ELN_uc003tzq.3_Missense_Mutation_p.K397R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.K514R|ELN_uc003tzt.3_Missense_Mutation_p.K538R|ELN_uc003tzu.3_Missense_Mutation_p.K519R|ELN_uc003tzv.3_Missense_Mutation_p.K504R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.K523R|ELN_uc011kff.2_Missense_Mutation_p.K533R	p.K539R	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1707	+		Lung NSC(55;0.159)	562			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1616A>G	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748215	0.49257	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.27;1.25;1.3;1.3;1.24;1.23;1.34;1.25;1.23;1.26;1.27;1.24;1.27	4.47	4.47	0.54385	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	B;B;B;B;B;B;B;B;B;P;B;B	0.36909	0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.206;0.573;0.206;0.206	B;B;B;B;B;B;B;B;B;B;B;B	0.36666	0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.124;0.23;0.124;0.124	T	0.08006	-1.0743	8	0.20046	T	0.44	0.1796	10.4635	0.44594	1.0:0.0:0.0:0.0	.	533;452;509;523;539;504;519;538;514;397;444;533	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	R	533;533;568;452;509;539;504;523;538;519;472;397;514;533	ENSP00000389857:K533R;ENSP00000252034:K533R;ENSP00000351807:K568R;ENSP00000315607:K452R;ENSP00000392575:K509R;ENSP00000369936:K539R;ENSP00000369949:K504R;ENSP00000403162:K523R;ENSP00000349540:K538R;ENSP00000391129:K519R;ENSP00000369926:K397R;ENSP00000369950:K514R;ENSP00000313565:K533R	ENSP00000252034:K533R	K	+	2	0	ELN	73112427	0.021000	0.18746	0.008000	0.14137	0.297000	0.27493	2.955000	0.49121	2.030000	0.59900	0.524000	0.50904	AAG		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
TRPV5	56302	broad.mit.edu	37	7	142625890	142625890	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:142625890G>T	ENST00000265310.1	-	6	1006	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TRPV5_ENST00000442623.1_Missense_Mutation_p.L220M	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	220					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCGTAGGACAGCAGCAGGTTG	0.572																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(658-660)Ctg>Atg		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							211.0	199.0	203.0					7																	142625890		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625890G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.658C>A	7.37:g.142625890G>T	ENSP00000265310:p.Leu220Met					TRPV5_uc003wbz.3_Missense_Mutation_p.L220M	p.L220M	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			5	922	-	Melanoma(164;0.059)		220					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.658C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348121	0.61183	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.61040	0.14;0.14;0.14	4.01	4.01	0.46588	Ankyrin repeat-containing domain (3);	0.193487	0.44688	D	0.000430	T	0.64193	0.2576	M	0.64676	1.99	0.49798	D	0.999828	P;P	0.41366	0.707;0.747	P;P	0.51297	0.518;0.665	T	0.66221	-0.5978	10	0.52906	T	0.07	-3.167	10.6834	0.45828	0.0:0.0:0.8092:0.1908	.	220;220	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	M	220;214;220	ENSP00000265310:L220M;ENSP00000406361:L214M;ENSP00000406572:L220M	ENSP00000265310:L220M	L	-	1	2	TRPV5	142336012	0.985000	0.35326	1.000000	0.80357	0.966000	0.64601	1.481000	0.35476	2.076000	0.62316	0.462000	0.41574	CTG		0.572	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
WNK2	65268	broad.mit.edu	37	9	96030181	96030181	+	Missense_Mutation	SNP	G	G	T	rs558079515		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:96030181G>T	ENST00000297954.4	+	16	3850	c.3850G>T	c.(3850-3852)Ggc>Tgc	p.G1284C	WNK2_ENST00000427277.2_Missense_Mutation_p.G896C|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.G1284C|WNK2_ENST00000349097.3_Missense_Mutation_p.G896C	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1284					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCACCTGCGGCCTGGGCAC	0.657																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(3850-3852)Ggc>Tgc		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							29.0	29.0	29.0					9																	96030181		2202	4297	6499	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96030181G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3850G>T	9.37:g.96030181G>T	ENSP00000297954:p.Gly1284Cys					WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.3_Missense_Mutation_p.G1284C|WNK2_uc004atk.3_Missense_Mutation_p.G921C	p.G1284C	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			15	3850	+			1284					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3850G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.86|10.86	1.470163|1.470163	0.26423|0.26423	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.38077|.	1.16;1.16;1.16;1.16|.	5.27|5.27	-0.282|-0.282	0.12878|0.12878	.|.	0.554792|.	0.18615|.	N|.	0.136042|.	T|T	0.48714|0.48714	0.1515|0.1515	L|L	0.59436|0.59436	1.845|1.845	0.20764|0.20764	N|N	0.999858|0.999858	D;D;D;D|.	0.89917|.	1.0;0.997;0.999;1.0|.	D;P;P;D|.	0.79108|.	0.992;0.758;0.878;0.964|.	T|T	0.44772|0.44772	-0.9306|-0.9306	10|5	0.41790|.	T|.	0.15|.	.|.	10.5521|10.5521	0.45095|0.45095	0.5365:0.0:0.4635:0.0|0.5365:0.0:0.4635:0.0	.|.	1284;887;1284;1284|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	C|L	1284;1284;896;896|887	ENSP00000297954:G1284C;ENSP00000378860:G1284C;ENSP00000297876:G896C;ENSP00000411181:G896C|.	ENSP00000297954:G1284C|.	G|R	+|+	1|2	0|0	WNK2|WNK2	95070002|95070002	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.168000|0.168000	0.22595|0.22595	-0.402000|-0.402000	0.07223|0.07223	-0.271000|-0.271000	0.09272|0.09272	-0.133000|-0.133000	0.14855|0.14855	GGC|CGG		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
ANAPC2	29882	broad.mit.edu	37	9	140074735	140074735	+	Silent	SNP	C	C	A	rs200796659		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:140074735C>A	ENST00000323927.2	-	10	1792	c.1788G>T	c.(1786-1788)ctG>ctT	p.L596L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACTCACTGGACAGGATGACAG	0.607																																						uc004clr.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1786-1788)ctG>ctT		Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.							89.0	81.0	83.0					9																	140074735		2203	4300	6503	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074735C>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1788G>T	9.37:g.140074735C>A						ANAPC2_uc004clq.1_Silent_p.L452L	p.L596L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	9	1861	-	all_cancers(76;0.0926)		596					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1788G>T	CCDS7033.1																																																																																				0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366	
PCDH19	57526	broad.mit.edu	37	X	99663291	99663291	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chrX:99663291G>A	ENST00000373034.4	-	1	1980	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PCDH19_ENST00000420881.2_Missense_Mutation_p.S102L|PCDH19_ENST00000255531.7_Missense_Mutation_p.S102L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTCGAGCGAGATGATGCA	0.557																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(304-306)tCg>tTg		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.							103.0	98.0	99.0					X																	99663291		2138	4237	6375	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663291G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.305C>T	X.37:g.99663291G>A	ENSP00000362125:p.Ser102Leu					PCDH19_uc004efw.4_Missense_Mutation_p.S102L|PCDH19_uc004efx.4_Missense_Mutation_p.S102L	p.S102L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	1981	-			102			Cadherin 1.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.305C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.657980	0.67586	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.28666	1.6;1.6;1.6	5.7	5.7	0.88788	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.61036	1.89	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.52373	-0.8584	10	0.46703	T	0.11	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	102;102;102	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	102	ENSP00000400327:S102L;ENSP00000362125:S102L;ENSP00000255531:S102L	ENSP00000255531:S102L	S	-	2	0	PCDH19	99549947	1.000000	0.71417	0.954000	0.39281	0.971000	0.66376	6.584000	0.74057	2.385000	0.81259	0.544000	0.68410	TCG		0.557	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
