#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM161B	153396	broad.mit.edu	37	5	87502987	87502987	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:87502987A>G	ENST00000296595.6	-	6	581	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	TMEM161B_ENST00000509387.1_Missense_Mutation_p.F26L|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F153L|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F142L|TMEM161B_ENST00000511218.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	153						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTAATGAAAATAGAACTTTG	0.318																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(457-459)Ttt>Ctt		transmembrane protein 161B							52.0	55.0	54.0					5																	87502987		2203	4297	6500	SO:0001583	missense	153396					integral to membrane		g.chr5:87502987A>G	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.457T>C	5.37:g.87502987A>G	ENSP00000296595:p.Phe153Leu					TMEM161B_ENST00000509387.1_Missense_Mutation_p.F26L|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F142L|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F153L|TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000506536.1_Intron	p.F153L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	6	581	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	153					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.457T>C	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405551	0.42715	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	N	0.17474	0.49	0.80722	D	1	P	0.46064	0.872	P	0.45310	0.476	T	0.23190	-1.0195	9	0.06757	T	0.87	-0.5734	15.4352	0.75140	1.0:0.0:0.0:0.0	.	153	Q8NDZ6	T161B_HUMAN	L	153;153;142;153;26	.	ENSP00000296595:F153L	F	-	1	0	TMEM161B	87538743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.481000	0.81124	2.106000	0.64143	0.477000	0.44152	TTT		0.318	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		6	13	0	0	0	1	0	6	13				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976024	29976024	+	RNA	SNP	C	C	G	rs3765604	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:29976024C>G	ENST00000376797.3	-	0	1053				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATAACGAGGTCCTGGGTTCTG	0.592													G|||	959	0.191494	0.2988	0.1744	5008	,	,		14956	0.1905		0.0954	False		,,,				2504	0.1585					ENST00000376797.3																			0																																																			0							g.chr6:29976024C>G	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976024C>G						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	1053	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.592	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	23	0	0	0	1	0	3	23				
DTX1	1840	broad.mit.edu	37	12	113515358	113515358	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr12:113515358A>G	ENST00000257600.3	+	2	892	c.389A>G	c.(388-390)cAg>cGg	p.Q130R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	130	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATCACCATCCAGAACGCCTAC	0.607																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(388-390)cAg>cGg		deltex homolog 1 (Drosophila)							112.0	83.0	93.0					12																	113515358		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515358A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.389A>G	12.37:g.113515358A>G	ENSP00000257600:p.Gln130Arg						p.Q130R	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	892	+			130			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.389A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149505	0.78001	.	.	ENSG00000135144	ENST00000257600	T	0.30448	1.53	2.96	2.96	0.34315	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.42832	0.1220	M	0.73962	2.25	0.46631	D	0.999138	P	0.52170	0.951	P	0.51918	0.684	T	0.47114	-0.9142	10	0.87932	D	0	-11.6508	10.1342	0.42697	1.0:0.0:0.0:0.0	.	130	Q86Y01	DTX1_HUMAN	R	130	ENSP00000257600:Q130R	ENSP00000257600:Q130R	Q	+	2	0	DTX1	111999741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.282000	0.89907	1.200000	0.43188	0.358000	0.22013	CAG		0.607	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			10	52	0	0	0	1	0	10	52				
TFAP2B	7021	broad.mit.edu	37	6	50811003	50811003	+	Silent	SNP	C	C	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:50811003C>G	ENST00000393655.3	+	7	1450	c.1281C>G	c.(1279-1281)ggC>ggG	p.G427G	TFAP2B_ENST00000263046.4_Silent_p.G436G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	427				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGCTCAAAGGCATGGACAAGA	0.582																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1306-1308)ggC>ggG		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							52.0	50.0	50.0					6																	50811003		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50811003C>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1281C>G	6.37:g.50811003C>G						TFAP2B_ENST00000393655.3_Silent_p.G427G	p.G436G			Q92481	AP2B_HUMAN			8	1474	+	Lung NSC(77;0.156)		427	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1308C>G	CCDS4934.2																																																																																				0.582	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		12	27	0	0	0	1	0	12	27				
MAP3K4	4216	broad.mit.edu	37	6	161512543	161512543	+	Missense_Mutation	SNP	A	A	G	rs199599458		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:161512543A>G	ENST00000392142.4	+	12	3254	c.3106A>G	c.(3106-3108)Atg>Gtg	p.M1036V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1036V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1036					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGAGAAGCAATGATTCAGGG	0.393																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3106-3108)Atg>Gtg		mitogen-activated protein kinase kinase kinase 4							185.0	178.0	180.0					6																	161512543		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161512543A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3106A>G	6.37:g.161512543A>G	ENSP00000375986:p.Met1036Val					MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1036V	p.M1036V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	12	3254	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1036					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3106A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811431	0.70797	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71817	-0.6;-0.57;-0.57;-0.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.39898	1.24	0.58432	D	0.999999	D;P;D;D	0.61080	0.976;0.524;0.986;0.989	P;B;D;D	0.70935	0.901;0.155;0.971;0.958	T	0.72871	-0.4161	10	0.41790	T	0.15	-39.1911	15.3303	0.74203	1.0:0.0:0.0:0.0	.	1036;26;1036;1036	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	V	1036	ENSP00000355886:M1036V;ENSP00000375986:M1036V;ENSP00000355887:M1036V;ENSP00000297332:M1036V	ENSP00000297332:M1036V	M	+	1	0	MAP3K4	161432533	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.818000	0.91991	2.081000	0.62600	0.528000	0.53228	ATG		0.393	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			4	49	0	0	0	1	0	4	49				
C11orf30	56946	broad.mit.edu	37	11	76174901	76174901	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr11:76174901A>G	ENST00000529032.1	+	6	608	c.608A>G	c.(607-609)aAa>aGa	p.K203R	C11orf30_ENST00000524490.1_Missense_Mutation_p.K204R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K218R|C11orf30_ENST00000533248.1_Missense_Mutation_p.K217R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K218R|C11orf30_ENST00000525919.1_Missense_Mutation_p.K204R|C11orf30_ENST00000343878.3_Missense_Mutation_p.K203R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K203R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	203	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAACCCAGAAAACGAAGGCGA	0.413																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(607-609)aAa>aGa		chromosome 11 open reading frame 30							161.0	166.0	164.0					11																	76174901		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76174901A>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.608A>G	11.37:g.76174901A>G	ENSP00000432327:p.Lys203Arg					C11orf30_ENST00000343878.3_Missense_Mutation_p.K203R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K218R|C11orf30_ENST00000533248.1_Missense_Mutation_p.K217R|C11orf30_ENST00000524490.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525919.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K218R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K203R	p.K203R			Q7Z589	EMSY_HUMAN			6	608	+			203			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.608A>G	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956525	0.73902	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.993;0.993;0.993;0.998;0.998;0.997;0.993;0.997	D;D;D;D;D;D;D;D	0.78314	0.971;0.971;0.971;0.991;0.991;0.98;0.971;0.98	T	0.57441	-0.7811	10	0.42905	T	0.14	-8.5273	15.837	0.78805	1.0:0.0:0.0:0.0	.	217;218;218;203;153;204;204;203	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	R	204;203;203;153;218;217;204;218;203	ENSP00000431166:K204R;ENSP00000334130:K203R;ENSP00000344688:K203R;ENSP00000433205:K218R;ENSP00000433634:K217R;ENSP00000432010:K204R;ENSP00000436968:K218R;ENSP00000432327:K203R	ENSP00000334130:K203R	K	+	2	0	C11orf30	75852549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	AAA		0.413	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		25	71	0	0	0	1	0	25	71				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	23	0	0	0	1	0	3	23				
TP53	7157	broad.mit.edu	37	17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:7579406G>C	ENST00000269305.4	-	4	470	c.281C>G	c.(280-282)tCa>tGa	p.S94*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S94*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*	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	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)	GACAGAAGATGACAGGGGCCA	0.627		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)	ENST00000420246.2		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"""		19	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)	p.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|breast(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|liver(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						c.(280-282)tCa>tGa	Other conserved DNA damage response genes	tumor protein p53							46.0	50.0	49.0					17																	7579406		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579406G>C	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.281C>G	17.37:g.7579406G>C	ENSP00000269305:p.Ser94*	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_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S94*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*	p.S94*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	413	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	94		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with WWOX.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.281C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235528	0.95240	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.41	4.41	0.53225	.	0.479162	0.22142	N	0.064035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.4656	14.8839	0.70553	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000269305:S94X	S	-	2	0	TP53	7520131	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	6.829000	0.75314	2.450000	0.82876	0.561000	0.74099	TCA		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	26	0	0	0	1	0	51	26				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	26	0	0	0	1	0	3	26				
PCDHGA1	56114	broad.mit.edu	37	5	140710809	140710809	+	Silent	SNP	C	C	T			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:140710809C>T	ENST00000517417.1	+	1	558	c.558C>T	c.(556-558)gcC>gcT	p.A186A	PCDHGA1_ENST00000378105.3_Silent_p.A186A|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	186	Cadherin 2. {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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGGAGCCGATGGGCCTC	0.527																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(556-558)gcC>gcT									83.0	80.0	81.0					5																	140710809		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140710809C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.558C>T	5.37:g.140710809C>T						PCDHGA1_ENST00000378105.3_Silent_p.A186A	p.A186A	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	558	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.558C>T	CCDS54922.1																																																																																				0.527	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		10	43	0	0	0	1	0	10	43				
IL17F	112744	broad.mit.edu	37	6	52109195	52109195	+	Splice_Site	SNP	C	C	A			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:52109195C>A	ENST00000336123.4	-	1	140	c.33G>T	c.(31-33)atG>atT	p.M11I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	11					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGCTACTCACCATGGCTGGGC	0.453																																						ENST00000336123.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14						c.e1+1		interleukin 17F							189.0	161.0	170.0					6																	52109195		2203	4300	6503	SO:0001630	splice_region_variant	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52109195C>A	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.33+1G>T	6.37:g.52109195C>A							p.M11_splice	NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN			1	140	-	Lung NSC(77;0.116)		11					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Splice_Site	SNP	ENST00000336123.4	37	c.33_splice	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630951	0.28978	.	.	ENSG00000112116	ENST00000336123	T	0.41065	1.01	5.19	5.19	0.71726	.	0.704875	0.14023	N	0.346668	T	0.15955	0.0384	L	0.27053	0.805	0.32514	N	0.537144	B	0.30406	0.278	B	0.24974	0.057	T	0.04017	-1.0984	9	.	.	.	-0.3263	14.4119	0.67119	0.0:1.0:0.0:0.0	.	11	Q96PD4	IL17F_HUMAN	I	11	ENSP00000337432:M11I	.	M	-	3	0	IL17F	52217154	0.998000	0.40836	0.998000	0.56505	0.065000	0.16274	3.347000	0.52200	2.865000	0.98341	0.655000	0.94253	ATG		0.453	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872	Missense_Mutation	8	41	1	0	0.0692343	1	0.0715421	8	41				
PCYOX1L	78991	broad.mit.edu	37	5	148748023	148748023	+	Missense_Mutation	SNP	C	C	A	rs142120062	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:148748023C>A	ENST00000274569.4	+	6	1353	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R341S	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	431				R -> P (in Ref. 7; BAC03391). {ECO:0000305}.	prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGGCTCCCGCCCCACGCT	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		16061	0.0		0.002	False		,,,				2504	0.0				Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(1021-1023)Cgc>Agc		prenylcysteine oxidase 1 like		C	SER/ARG	0,4406		0,0,2203	56.0	59.0	58.0		1291	5.5	1.0	5	dbSNP_134	58	25,8575	16.6+/-54.9	0,25,4275	yes	missense	PCYOX1L	NM_024028.3	110	0,25,6478	AA,AC,CC		0.2907,0.0,0.1922	benign	431/495	148748023	25,12981	2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148748023C>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1291C>A	5.37:g.148748023C>A	ENSP00000274569:p.Arg431Ser					PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R431S	p.R341S			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1600	+			431					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.1021C>A	CCDS4296.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.731	0.916746	0.17907	0.0	0.002907	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14266	2.52;2.52	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.718830	0.14129	N	0.339463	T	0.06600	0.0169	N	0.08118	0	0.26074	N	0.981178	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.17098	0.002;0.003;0.017	T	0.37430	-0.9706	10	0.09084	T	0.74	-7.9813	8.6949	0.34289	0.0:0.716:0.2015:0.0825	.	313;341;431	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	S	431;341	ENSP00000274569:R431S;ENSP00000428512:R341S	ENSP00000274569:R431S	R	+	1	0	PCYOX1L	148728216	0.000000	0.05858	0.993000	0.49108	0.743000	0.42351	0.148000	0.16224	2.577000	0.86979	0.561000	0.74099	CGC		0.622	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		5	72	1	0	0.000602214	1	0.000643746	5	72				
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs199919711		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	36	0	0	0	1	0	4	36				
MRPL12	6182	broad.mit.edu	37	17	79674051	79674051	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:79674051A>G	ENST00000333676.3	+	4	606	c.461A>G	c.(460-462)cAa>cGa	p.Q154R	SLC25A10_ENST00000541223.1_Missense_Mutation_p.Q154R|SLC25A10_ENST00000571730.1_Missense_Mutation_p.Q154R	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	154					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACTACATCCAAGGCATCAAC	0.587																																						ENST00000571730.1																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(460-462)cAa>cGa		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						78.0	69.0	72.0					17																	79674051		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79674051A>G	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.461A>G	17.37:g.79674051A>G	ENSP00000333837:p.Gln154Arg					SLC25A10_ENST00000541223.1_Missense_Mutation_p.Q154R|MRPL12_ENST00000333676.3_Missense_Mutation_p.Q154R	p.Q154R			Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	592	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.461A>G	CCDS11785.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	14.35|14.35|14.35	2.508374|2.508374|2.508374	0.44660|0.44660|0.44660	.|.|.	.|.|.	ENSG00000183048|ENSG00000183048|ENSG00000183048	ENST00000332396|ENST00000332396|ENST00000541223;ENST00000333676	.|.|T;T	.|.|0.80033	.|.|-1.33;0.96	4.51|4.51|4.51	3.42|3.42|3.42	0.39159|0.39159|0.39159	.|.|Ribosomal protein L7/L12, C-terminal (2);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	.|.|0.338329	.|.|0.31884	.|.|N	.|.|0.006902	.|T|T	.|0.79446|0.79446	.|0.4447|0.4447	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;B	.|.|0.37423	.|.|0.594;0.002	.|.|P;B	.|.|0.48677	.|.|0.586;0.008	.|T|T	.|0.78625|0.78625	.|-0.2131|-0.2131	.|6|10	.|0.02654|0.62326	.|T|D	.|1|0.03	.|-14.5017|-14.5017	11.2033|11.2033|11.2033	0.48754|0.48754|0.48754	0.689:0.311:0.0:0.0|0.689:0.311:0.0:0.0|0.689:0.311:0.0:0.0	.|.|.	.|.|154;154	.|.|B4DLN1;P52815	.|.|.;RM12_HUMAN	.|E|R	-1|154|154	.|.|ENSP00000439565:Q154R;ENSP00000333837:Q154R	.|ENSP00000330017:K154E|ENSP00000333837:Q154R	.|K|Q	+|+|+	.|1|2	.|0|0	SLC25A10|SLC25A10|SLC25A10	77284456|77284456|77284456	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	2.480000|2.480000|2.480000	0.45206|0.45206|0.45206	0.742000|0.742000|0.742000	0.32697|0.32697|0.32697	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	.|AAG|CAA		0.587	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		8	46	0	0	0	1	0	8	46				
TIE1	7075	broad.mit.edu	37	1	43784936	43784936	+	Missense_Mutation	SNP	G	G	A	rs45475401	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:43784936G>A	ENST00000372476.3	+	18	3032	c.2953G>A	c.(2953-2955)Gtg>Atg	p.V985M	TIE1_ENST00000433781.2_Missense_Mutation_p.V630M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	985	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCCGGAATGTGCTGGTCGG	0.562																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2953-2955)Gtg>Atg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							109.0	102.0	104.0					1																	43784936		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43784936G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2953G>A	1.37:g.43784936G>A	ENSP00000361554:p.Val985Met					TIE1_ENST00000433781.2_Missense_Mutation_p.V630M|TIE1_ENST00000473014.1_3'UTR	p.V985M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			18	3032	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	985			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2953G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358764	0.82243	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.72942	-0.7;-0.7	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35291	N	0.003317	D	0.83362	0.5238	M	0.82630	2.6	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.68943	0.934;0.91;0.961	D	0.85045	0.0925	10	0.87932	D	0	.	11.3441	0.49550	0.1084:0.0:0.8916:0.0	.	940;630;985	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	M	985;388;268;630	ENSP00000361554:V985M;ENSP00000411728:V630M	ENSP00000361553:V388M	V	+	1	0	TIE1	43557523	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	5.454000	0.66651	2.837000	0.97791	0.655000	0.94253	GTG		0.562	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	44	0	0	0	1	0	7	44				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	19	0	0	0	1	0	5	19				
MYH13	8735	broad.mit.edu	37	17	10210260	10210260	+	Missense_Mutation	SNP	G	G	A	rs192011217	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:10210260G>A	ENST00000418404.3	-	35	5454	c.5291C>T	c.(5290-5292)aCg>aTg	p.T1764M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1764M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCACATCCGTGATGGCCTT	0.517													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19642	0.0		0.0	False		,,,				2504	0.001					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5290-5292)aCg>aTg		myosin, heavy chain 13, skeletal muscle							108.0	110.0	110.0					17																	10210260		2200	4300	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10210260G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5291C>T	17.37:g.10210260G>A	ENSP00000404570:p.Thr1764Met					MYH13_ENST00000570743.1_Missense_Mutation_p.T1764M|MYH13_ENST00000252172.4_Missense_Mutation_p.T1764M	p.T1764M			Q9UKX3	MYH13_HUMAN			35	5454	-			1764					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5291C>T	CCDS45613.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.42	3.823763	0.71143	.	.	ENSG00000006788	ENST00000252172	T	0.78481	-1.18	4.21	4.21	0.49690	Myosin tail (1);	.	.	.	.	T	0.82029	0.4948	M	0.86573	2.825	0.48762	D	0.999705	P	0.47545	0.897	B	0.42625	0.393	D	0.87310	0.2311	9	0.72032	D	0.01	.	17.113	0.86681	0.0:0.0:1.0:0.0	.	1764	Q9UKX3	MYH13_HUMAN	M	1764	ENSP00000252172:T1764M	ENSP00000252172:T1764M	T	-	2	0	MYH13	10150985	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	9.605000	0.98321	2.324000	0.78689	0.563000	0.77884	ACG		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		10	55	0	0	0	1	0	10	55				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	36	0	0	0	1	0	4	36				
RPS6KL1	83694	broad.mit.edu	37	14	75386664	75386664	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:75386664T>G	ENST00000555647.1	-	4	561	c.274A>C	c.(274-276)Aac>Cac	p.N92H	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92H|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92H|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92H|RPS6KL1_ENST00000554900.1_5'UTR			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	92	MIT.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTCCTTGTTGGGGTCAACT	0.607																																						ENST00000555647.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(274-276)Aac>Cac		ribosomal protein S6 kinase-like 1							52.0	49.0	50.0					14																	75386664		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75386664T>G	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.274A>C	14.37:g.75386664T>G	ENSP00000452027:p.Asn92His					RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92H|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92H|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92H	p.N92H			Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	4	561	-			92			MIT.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.274A>C	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076035	0.76415	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.72282	1.75;-0.64;1.75;1.75	4.58	4.58	0.56647	MIT (2);	0.055158	0.64402	D	0.000001	T	0.79505	0.4457	L	0.56124	1.755	0.51767	D	0.999935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.992	T	0.81111	-0.1081	10	0.72032	D	0.01	-30.042	11.5693	0.50824	0.0:0.0:0.0:1.0	.	92;92;92	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	H	92	ENSP00000452027:N92H;ENSP00000346644:N92H;ENSP00000450567:N92H;ENSP00000351086:N92H	ENSP00000346644:N92H	N	-	1	0	RPS6KL1	74456417	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.660000	0.68018	1.935000	0.56089	0.533000	0.62120	AAC		0.607	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			9	24	0	0	0	1	0	9	24				
RASGRP4	115727	broad.mit.edu	37	19	38909083	38909083	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr19:38909083G>A	ENST00000587738.1	-	7	855	c.785C>T	c.(784-786)cCc>cTc	p.P262L	RASGRP4_ENST00000433821.2_Missense_Mutation_p.P262L|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000587753.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.P228L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P248L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	262	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGGCCCGGGACGGCTCAG	0.662																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(682-684)cCc>cTc		RAS guanyl releasing protein 4							24.0	31.0	28.0					19																	38909083		2069	4185	6254	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38909083G>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.785C>T	19.37:g.38909083G>A	ENSP00000465772:p.Pro262Leu					RASGRP4_ENST00000586305.1_Missense_Mutation_p.P248L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P262L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000293062.9_Intron	p.P228L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	896	-	all_cancers(60;4.21e-06)		262			Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.683C>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405399	0.42715	.	.	ENSG00000171777	ENST00000433821;ENST00000405332;ENST00000454404	T	0.32753	1.44	4.72	3.67	0.42095	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.179880	0.48767	D	0.000170	T	0.53786	0.1818	M	0.74881	2.28	0.52099	D	0.999947	B;D;B;P;D	0.89917	0.389;1.0;0.217;0.914;1.0	P;D;P;P;D	0.91635	0.874;0.999;0.667;0.828;0.999	T	0.58399	-0.7643	10	0.66056	D	0.02	-13.4387	12.6393	0.56700	0.0:0.1679:0.8321:0.0	.	262;228;262;248;262	C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;GRP4_HUMAN	L	262	ENSP00000411878:P262L	ENSP00000384614:P262L	P	-	2	0	RASGRP4	43600923	1.000000	0.71417	0.590000	0.28732	0.003000	0.03518	4.165000	0.58196	1.173000	0.42796	-0.305000	0.09177	CCC		0.662	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		3	12	0	0	0	1	0	3	12				
SSTR4	6754	broad.mit.edu	37	20	23016513	23016513	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr20:23016513C>G	ENST00000255008.3	+	1	457	c.393C>G	c.(391-393)ttC>ttG	p.F131L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	131					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACATGTTCACCAGCGTCT	0.711																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(391-393)ttC>ttG		somatostatin receptor 4							84.0	84.0	84.0					20																	23016513		2202	4298	6500	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016513C>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.393C>G	20.37:g.23016513C>G	ENSP00000255008:p.Phe131Leu					RP4-753D10.3_ENST00000440921.1_RNA	p.F131L	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	457	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		131					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.393C>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366275	0.82463	.	.	ENSG00000132671	ENST00000255008	T	0.15834	2.39	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000003	T	0.38983	0.1061	M	0.73319	2.225	0.47276	D	0.999372	D	0.60575	0.988	D	0.66847	0.947	T	0.38650	-0.9651	10	0.87932	D	0	.	14.2751	0.66175	0.0:1.0:0.0:0.0	.	131	P31391	SSR4_HUMAN	L	131	ENSP00000255008:F131L	ENSP00000255008:F131L	F	+	3	2	SSTR4	22964513	1.000000	0.71417	0.686000	0.30086	0.994000	0.84299	2.104000	0.41815	1.911000	0.55334	0.655000	0.94253	TTC		0.711	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			34	60	0	0	0	1	0	34	60				
TADA2A	6871	broad.mit.edu	37	17	35783699	35783699	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:35783699T>C	ENST00000394395.2	+	3	289	c.116T>C	c.(115-117)tTt>tCt	p.F39S	TADA2A_ENST00000225396.6_Missense_Mutation_p.F39S|TADA2A_ENST00000417170.1_Missense_Mutation_p.F39S|TADA2A_ENST00000586023.1_Missense_Mutation_p.F39S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	39	Cys-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCACCTCCTTTTTTCCTCTGC	0.443																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(115-117)tTt>tCt		transcriptional adaptor 2A							214.0	186.0	195.0					17																	35783699		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35783699T>C	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.116T>C	17.37:g.35783699T>C	ENSP00000377918:p.Phe39Ser					TADA2A_ENST00000225396.6_Missense_Mutation_p.F39S|TADA2A_ENST00000586023.1_Missense_Mutation_p.F39S|TADA2A_ENST00000417170.1_Missense_Mutation_p.F39S	p.F39S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			3	289	+			39			Cys-rich.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.116T>C	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361466	0.82353	.	.	ENSG00000108264	ENST00000394395;ENST00000225396;ENST00000417170	D;D;D	0.91521	-2.86;-2.86;-2.86	6.06	4.99	0.66335	Zinc finger, ZZ-type (1);	0.087903	0.85682	D	0.000000	D	0.91270	0.7248	M	0.84433	2.695	0.58432	D	0.999998	P;D	0.54601	0.919;0.967	B;B	0.44044	0.434;0.439	D	0.92273	0.5827	10	0.72032	D	0.01	-12.7508	11.3892	0.49804	0.0:0.0706:0.0:0.9294	.	39;39	O75478-2;O75478	.;TAD2A_HUMAN	S	39	ENSP00000377918:F39S;ENSP00000225396:F39S;ENSP00000406699:F39S	ENSP00000225396:F39S	F	+	2	0	TADA2A	32857812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.724000	0.68500	2.324000	0.78689	0.533000	0.62120	TTT		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		9	53	0	0	0	1	0	9	53				
MAGEB16	139604	broad.mit.edu	37	X	35820265	35820265	+	5'UTR	SNP	C	C	T	rs5928990	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:35820265C>T	ENST00000399989.1	+	0	231				MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399992.1_Silent_p.C16C|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16											breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTTCATTGCCTGCCCTCCT	0.522													C|||	1991	0.527417	0.1967	0.3847	3775	,	,		16399	0.5694		0.4185	False		,,,				2504	0.4796					ENST00000399992.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(46-48)tgC>tgT		melanoma antigen family B, 16		C		1096,2550		156,620,164,764,402	29.0	30.0	29.0			-3.3	0.0	X	dbSNP_114	29	3425,3154		665,1161,934,565,863	no	utr-5	MAGEB16	NM_001099921.1		821,1781,1098,1329,1265	TT,TC,T,CC,C		47.9404,30.0603,44.2152			35820265	4521,5704	2106	4188	6294	SO:0001623	5_prime_UTR_variant	139604							g.chrX:35820265C>T		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.-49C>T	X.37:g.35820265C>T						MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR	p.C16C			A2A368	MAGBG_HUMAN			3	147	+			0					A8MU30	Silent	SNP	ENST00000399989.1	37	c.48C>T	CCDS43927.1																																																																																				0.522	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			3	15	0	0	0	1	0	3	15				
S100A9	6280	broad.mit.edu	37	1	153333307	153333307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:153333307delC	ENST00000368738.3	+	3	381	c.338delC	c.(337-339)accfs	p.T113fs		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	113					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGAGGGCACCCCCTAAGAC	0.652																																						ENST00000368738.3																			0				breast(1)|endometrium(1)|large_intestine(2)	4						c.(337-339)acfs		S100 calcium binding protein A9							30.0	26.0	28.0					1																	153333307		2203	4300	6503	SO:0001589	frameshift_variant	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153333307delC	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.338delC	1.37:g.153333307delC	ENSP00000357727:p.Thr113fs						p.T113fs	NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	381	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		113					D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Frame_Shift_Del	DEL	ENST00000368738.3	37	c.338delC	CCDS1036.1																																																																																				0.652	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		2	4						2	4	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		8	32						8	32	---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96116772	96116775	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:96116772_96116775delGTTT	ENST00000443439.2	-	17	2641_2644	c.2575_2578delAAAC	c.(2575-2580)aaacttfs	p.KL859fs	ERAP1_ENST00000296754.3_Frame_Shift_Del_p.KL859fs|ERAP1_ENST00000514604.1_5'Flank	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	859					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTTTGTACAAGTTTGTTCCAGTTT	0.387																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(2575-2580)ttfs		endoplasmic reticulum aminopeptidase 1																																				SO:0001589	frameshift_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96116772_96116775delGTTT	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2575_2578delAAAC	5.37:g.96116772_96116775delGTTT	ENSP00000406304:p.Lys859fs					ERAP1_ENST00000443439.2_Frame_Shift_Del_p.KL859fs	p.KL859fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	17	2832_2835	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	859					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	c.2575_2578delAAAC	CCDS47250.1																																																																																				0.387	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		10	22						10	22	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352461	5352461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr7:5352461delG	ENST00000430969.1	-	27	8409	c.8061delC	c.(8059-8061)cccfs	p.P2687fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P2687fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2687							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTGGGGGCGGGGGCTGCCT	0.687																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8059-8061)ccfs		trinucleotide repeat containing 18							6.0	7.0	7.0					7																	5352461		1535	3508	5043	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5352461delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8061delC	7.37:g.5352461delG	ENSP00000395538:p.Pro2687fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P2687fs	p.P2687fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8409	-		Ovarian(82;0.142)	2687					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.8061delC	CCDS47534.1																																																																																				0.687	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35563239	35563241	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr9:35563239_35563241delAGG	ENST00000399742.2	-	2	278_280	c.208_210delCCT	c.(208-210)cctdel	p.P70del	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	70										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGGGAACCTCAGGAGATCTTGGA	0.601																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(208-210)del		family with sequence similarity 166, member B																																				SO:0001651	inframe_deletion	730112							g.chr9:35563239_35563241delAGG	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.208_210delCCT	9.37:g.35563239_35563241delAGG	ENSP00000382646:p.Pro70del					FAM166B_ENST00000492890.1_5'UTR	p.P70del	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			2	278_280	-			70					A1L3B2|B7ZBJ0	In_Frame_Del	DEL	ENST00000399742.2	37	c.208_210delCCT	CCDS56572.1																																																																																				0.601	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		17	139						17	139	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58899174	58899177	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:58899174_58899177delAAGT	ENST00000556134.1	+	5	638_639	c.364_365delAAGT	c.(364-366)aag>g	p.K122fs	KIAA0586_ENST00000354386.6_Splice_Site_p.K149fs|KIAA0586_ENST00000423743.3_Splice_Site_p.K52fs|KIAA0586_ENST00000261244.5_Splice_Site_p.K137fs	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	122					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTAAAGCAAAAGTAAGTTTCATT	0.279																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e4+1		KIAA0586																																				SO:0001630	splice_region_variant	9786							g.chr14:58899174_58899177delAAGT	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.365+1AAGT>-	14.37:g.58899178_58899181delAAGT						KIAA0586_ENST00000354386.6_Splice_Site_p.149_splice|KIAA0586_ENST00000261244.5_Splice_Site_p.137_splice|KIAA0586_ENST00000556134.1_Splice_Site_p.122_splice	p.52_splice	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			4	412_413	+			136					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	DEL	ENST00000556134.1	37	c.155_splice	CCDS58321.1																																																																																				0.279	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Frame_Shift_Del	4	5						4	5	---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3108981	3108981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:3108981delC	ENST00000336577.4	+	10	1808	c.1571delC	c.(1570-1572)accfs	p.T524fs	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	0					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CCCAAAGCGACCCCCGTGTCC	0.711																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(1570-1572)acfs		matrix metallopeptidase 25							8.0	8.0	8.0					16																	3108981		2086	4132	6218	SO:0001589	frameshift_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3108981delC	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1571delC	16.37:g.3108981delC	ENSP00000337816:p.Thr524fs					RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	p.T524fs	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			10	1808	+			524					Q96F04|Q96TE2	Frame_Shift_Del	DEL	ENST00000336577.4	37	c.1571delC	CCDS10492.1																																																																																				0.711	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		2	4						2	4	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589320	58589323	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:58589320_58589323delTCTT	ENST00000317147.5	-	21	3055_3058	c.2723_2726delAAGA	c.(2722-2727)aaagagfs	p.KE908fs	CNOT1_ENST00000441024.2_Frame_Shift_Del_p.KE908fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.KE903fs|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	908	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATGTAACTCTTTATCAGGATA	0.373																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2722-2727)agfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589320_58589323delTCTT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2723_2726delAAGA	16.37:g.58589320_58589323delTCTT	ENSP00000320949:p.Lys908fs					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.KE908fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.KE903fs	p.KE908fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3055_3058	-			908					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.2723_2726delAAGA	CCDS10799.1																																																																																				0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		15	71						15	71	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72843447	72843449	+	Splice_Site	DEL	CTT	CTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:72843447_72843449delCTT	ENST00000293190.5	-	9	2145_2147	c.1999_2001delAAG	c.(1999-2001)aagdel	p.K667del	GRIN2C_ENST00000347612.4_Splice_Site_p.K667del	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	667					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCCCACAACCTTCTTGTCACTG	0.611																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.e9+1		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)																																			SO:0001630	splice_region_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843447_72843449delCTT		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2001+1AAG>-	17.37:g.72843450_72843452delCTT						GRIN2C_ENST00000347612.4_Splice_Site_p.K667_splice	p.K667_splice	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	2145_2147	-	all_lung(278;0.172)|Lung NSC(278;0.207)		667					B2RTT1	Splice_Site	DEL	ENST00000293190.5	37	c.2001_splice	CCDS32724.1																																																																																				0.611	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		In_Frame_Del	9	66						9	66	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E886fs*18(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(1)|Deletion - Frameshift(1)	p.E886fs*18(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2656-2661)ctfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938089_76938092delTCTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2656_2659delGAGA	X.37:g.76938093_76938096delTCTC	ENSP00000362441:p.Glu886fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	p.ET886fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2870_2873	-			886					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2656_2659delGAGA	CCDS14434.1																																																																																				0.412	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		46	26						46	26	---	---	---	---
