#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPAG17	200162	broad.mit.edu	37	1	118565931	118565931	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:118565931C>G	ENST00000336338.5	-	28	4130	c.4065G>C	c.(4063-4065)aaG>aaC	p.K1355N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1355						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTACCTTTCTTTGTGTTGG	0.363																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4063-4065)aaG>aaC		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							100.0	95.0	97.0					1																	118565931		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118565931C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4065G>C	1.37:g.118565931C>G	ENSP00000337804:p.Lys1355Asn		Somatic					p.K1355N	NM_206996	NP_996879	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	27	4133	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1355					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4065G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786100	0.49997	.	.	ENSG00000155761	ENST00000336338	T	0.24908	1.83	5.87	3.95	0.45737	.	0.236733	0.41605	D	0.000848	T	0.27594	0.0678	M	0.68952	2.095	0.30123	N	0.805503	D	0.76494	0.999	P	0.59948	0.866	T	0.06481	-1.0824	10	0.54805	T	0.06	.	8.944	0.35747	0.0:0.8211:0.0:0.1789	.	1355	Q6Q759	SPG17_HUMAN	N	1355	ENSP00000337804:K1355N	ENSP00000337804:K1355N	K	-	3	2	SPAG17	118367454	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	0.910000	0.28571	1.427000	0.47276	0.591000	0.81541	AAG		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		23	25	0	0	0	1	0	23	25				
ATP1B4	23439	broad.mit.edu	37	X	119500552	119500552	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:119500552G>A	ENST00000218008.3	+	2	293	c.236G>A	c.(235-237)gGc>gAc	p.G79D	ATP1B4_ENST00000361319.3_Missense_Mutation_p.G79D|ATP1B4_ENST00000539306.1_Missense_Mutation_p.G79D	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	79					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGCCAACAGGCAATGCCTGG	0.527																																						uc004esr.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(235-237)gGc>gAc		Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.							108.0	90.0	96.0					X																	119500552		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500552G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.236G>A	X.37:g.119500552G>A	ENSP00000218008:p.Gly79Asp		Somatic				ATP1B4_uc004esq.3_Missense_Mutation_p.G79D|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Missense_Mutation_p.G79D	p.G79D	NM_001142447	NP_001135919	WXS	Illumina GAIIx	Phase_I	Q9UN42	AT1B4_HUMAN			1	320	+			79					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.236G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020225	0.07634	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.24151	1.96;1.96;1.87	5.08	4.22	0.49857	.	0.647149	0.16749	N	0.201138	T	0.11793	0.0287	N	0.08118	0	0.35179	D	0.772304	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.002	T	0.18335	-1.0340	10	0.19590	T	0.45	-3.5794	7.5441	0.27757	0.2046:0.0:0.7954:0.0	.	79;79;79	B7ZKW0;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	D	79	ENSP00000218008:G79D;ENSP00000355346:G79D;ENSP00000443334:G79D	ENSP00000218008:G79D	G	+	2	0	ATP1B4	119384580	1.000000	0.71417	0.997000	0.53966	0.151000	0.21798	3.323000	0.52014	1.202000	0.43218	0.589000	0.80489	GGC		0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		42	48	0	0	0	1	0	42	48				
FAM13A	10144	broad.mit.edu	37	4	89702434	89702434	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:89702434T>A	ENST00000264344.5	-	11	1547	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	FAM13A_ENST00000395002.2_Missense_Mutation_p.Q121L|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q93L|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q121L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q107L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCGACTTCCTGAGTATTCAA	0.358																																						uc003hse.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1339-1341)cAg>cTg		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.							100.0	100.0	100.0					4																	89702434		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702434T>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1340A>T	4.37:g.89702434T>A	ENSP00000264344:p.Gln447Leu		Somatic				FAM13A_uc003hsb.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsd.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsc.1_Missense_Mutation_p.Q107L|FAM13A_uc011cdq.1_Missense_Mutation_p.Q93L|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q261L|FAM13A_uc010ikr.1_5'UTR	p.Q447L	NM_014883	NP_055698	WXS	Illumina GAIIx	Phase_I	O94988	FA13A_HUMAN			10	1548	-			447					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1340A>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571962	0.45798	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	T;T;T;T;T	0.63417	-0.04;-0.04;1.44;-0.04;1.45	5.23	2.78	0.32641	.	0.549798	0.20015	N	0.101027	T	0.48750	0.1517	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.28128	0.034;0.201;0.034;0.034;0.034	B;B;B;B;B	0.21708	0.036;0.023;0.036;0.036;0.036	T	0.24621	-1.0155	10	0.15066	T	0.55	.	8.0819	0.30750	0.0:0.0702:0.136:0.7938	.	93;447;121;107;121	O94988-6;O94988;O94988-3;O94988-5;O94988-1	.;FA13A_HUMAN;.;.;.	L	121;447;107;121;93	ENSP00000378450:Q121L;ENSP00000264344:Q447L;ENSP00000427189:Q107L;ENSP00000421562:Q121L;ENSP00000423252:Q93L	ENSP00000264344:Q447L	Q	-	2	0	FAM13A	89921457	1.000000	0.71417	0.253000	0.24343	0.356000	0.29392	2.829000	0.48128	0.440000	0.26502	0.528000	0.53228	CAG		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			38	78	0	0	0	1	0	38	78				
DCAF13	25879	broad.mit.edu	37	8	104444914	104444914	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr8:104444914A>G	ENST00000297579.5	+	7	1463	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	244					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AACAAATACAATCTGTTGGAA	0.323																																						uc003yln.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1186-1188)Atc>Gtc		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.							81.0	89.0	86.0					8																	104444914		2203	4297	6500	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104444914A>G	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1186A>G	8.37:g.104444914A>G	ENSP00000297579:p.Ile396Val		Somatic				DCAF13_uc003ylm.1_Missense_Mutation_p.I129V	p.I396V	NM_015420	NP_056235	WXS	Illumina GAIIx	Phase_I	Q9NV06	DCA13_HUMAN			6	1463	+			244					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1186A>G	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970438	0.34754	.	.	ENSG00000164934	ENST00000297579	T	0.01295	5.04	5.45	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.063310	0.64402	D	0.000006	T	0.01592	0.0051	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.58538	-0.7619	10	0.41790	T	0.15	-18.6581	10.7679	0.46305	0.6121:0.3879:0.0:0.0	.	244	Q9NV06	DCA13_HUMAN	V	396	ENSP00000297579:I396V	ENSP00000297579:I396V	I	+	1	0	DCAF13	104514090	0.982000	0.34865	1.000000	0.80357	0.984000	0.73092	0.798000	0.27014	2.189000	0.69895	0.460000	0.39030	ATC		0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		27	34	0	0	0	1	0	27	34				
COBL	23242	broad.mit.edu	37	7	51092971	51092971	+	Silent	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr7:51092971C>T	ENST00000265136.7	-	12	3768	c.3603G>A	c.(3601-3603)ctG>ctA	p.L1201L	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.L1283L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1201					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGTGGGGACAGAAGACCAA	0.627																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3601-3603)ctG>ctA		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							23.0	26.0	25.0					7																	51092971		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51092971C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3603G>A	7.37:g.51092971C>T			Somatic				COBL_uc003tps.3_Intron|COBL_uc011kcl.2_Intron|COBL_uc003tpp.4_Silent_p.L987L|COBL_uc003tpq.4_Intron|COBL_uc003tpo.4_Silent_p.L743L	p.L1201L	NM_015198	NP_056013	WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			11	3788	-	Glioma(55;0.08)		1201					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3603G>A	CCDS34637.1																																																																																				0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		25	48	0	0	0	1	0	25	48				
ZNF507	22847	broad.mit.edu	37	19	32844893	32844893	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:32844893G>A	ENST00000311921.4	+	2	1349	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	ZNF507_ENST00000355898.5_Missense_Mutation_p.S386N|ZNF507_ENST00000544431.1_Missense_Mutation_p.S386N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATCATCAGCAGCAGCCCC	0.458																																						uc002nte.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1156-1158)aGc>aAc		Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.							56.0	55.0	55.0					19																	32844893		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844893G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1157G>A	19.37:g.32844893G>A	ENSP00000312277:p.Ser386Asn		Somatic				ZNF507_uc002ntc.2_Missense_Mutation_p.S386N|ZNF507_uc010xrn.1_Missense_Mutation_p.S386N|ZNF507_uc002ntd.3_Missense_Mutation_p.S386N	p.S386N	NM_001136156	NP_055725	WXS	Illumina GAIIx	Phase_I	Q8TCN5	ZN507_HUMAN			2	1429	+	Esophageal squamous(110;0.162)		386					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1157G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086407	0.01873	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06294	3.63;3.63;3.32	5.73	3.26	0.37387	.	0.191053	0.64402	N	0.000003	T	0.04407	0.0121	N	0.17474	0.49	0.30175	N	0.800927	B;B	0.12013	0.003;0.005	B;B	0.16722	0.004;0.016	T	0.21245	-1.0251	10	0.21540	T	0.41	-11.4942	12.0498	0.53501	0.2319:0.0:0.7681:0.0	.	386;386	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	N	386	ENSP00000348162:S386N;ENSP00000312277:S386N;ENSP00000441549:S386N	ENSP00000312277:S386N	S	+	2	0	ZNF507	37536733	1.000000	0.71417	0.986000	0.45419	0.189000	0.23516	1.580000	0.36547	1.409000	0.46915	0.655000	0.94253	AGC		0.458	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		3	46	0	0	0	1	0	3	46				
TRHDE	29953	broad.mit.edu	37	12	72667128	72667128	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr12:72667128G>A	ENST00000261180.4	+	1	666	c.570G>A	c.(568-570)gaG>gaA	p.E190E	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	190					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGCGGTGGAGAAAGTGCAGC	0.612																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(568-570)gaG>gaA		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							45.0	49.0	48.0					12																	72667128		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667128G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.570G>A	12.37:g.72667128G>A			Somatic				LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	p.E190E	NM_013381	NP_037513	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			0	600	+			190					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.570G>A	CCDS9004.1																																																																																				0.612	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	105	0	0	0	1	0	4	105				
OTUD6A	139562	broad.mit.edu	37	X	69283005	69283005	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:69283005G>T	ENST00000338352.2	+	1	665	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	211	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.V211M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGACAACATCGTGCGCACCAC	0.612																																						uc004dxu.1																			1	Substitution - Missense(1)	p.V211M(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(631-633)Gtg>Ttg		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							71.0	64.0	66.0					X																	69283005		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69283005G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.631G>T	X.37:g.69283005G>T	ENSP00000339389:p.Val211Leu		Somatic					p.V211L	NM_207320	NP_997203	WXS	Illumina GAIIx	Phase_I	Q7L8S5	OTU6A_HUMAN			0	665	+			211			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.631G>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082526	0.55861	.	.	ENSG00000189401	ENST00000338352	T	0.39592	1.07	4.42	3.56	0.40772	Ovarian tumour, otubain (2);	0.187662	0.45867	D	0.000325	T	0.41858	0.1177	L	0.31926	0.97	0.09310	N	1	P	0.48640	0.913	P	0.54590	0.756	T	0.15037	-1.0451	10	0.28530	T	0.3	.	9.5808	0.39486	0.1056:0.0:0.8944:0.0	.	211	Q7L8S5	OTU6A_HUMAN	L	211	ENSP00000339389:V211L	ENSP00000339389:V211L	V	+	1	0	OTUD6A	69199730	0.127000	0.22367	0.002000	0.10522	0.002000	0.02628	1.454000	0.35178	1.220000	0.43490	0.600000	0.82982	GTG		0.612	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		37	55	0	0	0	1	0	37	55				
MARCH1	55016	broad.mit.edu	37	4	164506962	164506962	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:164506962C>T	ENST00000503008.1	-	6	1338	c.362G>A	c.(361-363)cGc>cAc	p.R121H	MARCH1_ENST00000339875.5_Missense_Mutation_p.R104H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377H|MARCH1_ENST00000274056.7_Missense_Mutation_p.R121H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	121					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCACAGCAGCGTGTATCTGA	0.527																																						uc003iqs.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(361-363)cGc>cAc		Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.							123.0	112.0	116.0					4																	164506962		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506962C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.362G>A	4.37:g.164506962C>T	ENSP00000427223:p.Arg121His		Somatic				MARCH1_uc003iqr.2_Missense_Mutation_p.R104H	p.R121H	NM_001166373	NP_001159845	WXS	Illumina GAIIx	Phase_I	Q8TCQ1	MARH1_HUMAN			5	544	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	121					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.362G>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467604	0.96257	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.64402	D	0.000002	T	0.61937	0.2387	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.949	T	0.60239	-0.7302	10	0.51188	T	0.08	-52.0378	19.5557	0.95347	0.0:1.0:0.0:0.0	.	121;104	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	H	121;121;377;104;121	ENSP00000274056:R121H;ENSP00000427223:R121H;ENSP00000421322:R377H;ENSP00000345676:R104H;ENSP00000426731:R121H	ENSP00000274056:R121H	R	-	2	0	MARCH1	164726412	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	7.818000	0.86416	2.628000	0.89032	0.585000	0.79938	CGC		0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		40	118	0	0	0	1	0	40	118				
KIAA1522	57648	broad.mit.edu	37	1	33233411	33233411	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:33233411A>G	ENST00000373480.1	+	2	185	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	KIAA1522_ENST00000401073.2_Missense_Mutation_p.K87E|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K39E|KIAA1522_ENST00000294521.3_Missense_Mutation_p.K28E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	28										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAGAATGACAAACATCTAAG	0.602																																						uc001bvu.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(259-261)Aaa>Gaa		Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.							99.0	101.0	100.0					1																	33233411		1921	4113	6034	SO:0001583	missense	57648							g.chr1:33233411A>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.82A>G	1.37:g.33233411A>G	ENSP00000362579:p.Lys28Glu		Somatic				KIAA1522_uc010ohm.1_Missense_Mutation_p.K39E|KIAA1522_uc001bvv.2_Missense_Mutation_p.K28E|KIAA1522_uc010ohn.1_Missense_Mutation_p.K28E	p.K87E	NM_020888	NP_065939	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			1	303	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	28					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.259A>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779994	0.49891	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.33438	2.65;2.58;1.41;2.62	4.63	3.4	0.38934	.	0.365474	0.22952	N	0.053660	T	0.23492	0.0568	L	0.38175	1.15	0.22796	N	0.998721	B;P;B;B	0.42248	0.206;0.774;0.218;0.218	B;B;B;B	0.39299	0.059;0.296;0.059;0.059	T	0.13575	-1.0504	10	0.54805	T	0.06	0.1694	9.8111	0.40824	0.7332:0.2668:0.0:0.0	.	28;39;28;87	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	E	87;39;28;28	ENSP00000383851:K87E;ENSP00000362580:K39E;ENSP00000294521:K28E;ENSP00000362579:K28E	ENSP00000294521:K28E	K	+	1	0	KIAA1522	33005998	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.777000	0.47717	2.034000	0.60081	0.379000	0.24179	AAA		0.602	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	167	0	0	0	1	0	6	167				
DNMT1	1786	broad.mit.edu	37	19	10249155	10249155	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:10249155C>T	ENST00000340748.4	-	34	4262	c.4027G>A	c.(4027-4029)Gtg>Atg	p.V1343M	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.V1343M|DNMT1_ENST00000359526.4_Missense_Mutation_p.V1359M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1343	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCACCACCACGCTCAGCTGG	0.642																																						uc010xlc.2																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(4075-4077)Gtg>Atg		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						83.0	73.0	77.0					19																	10249155		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249155C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4027G>A	19.37:g.10249155C>T	ENSP00000345739:p.Val1343Met		Somatic				DNMT1_uc002mnf.3_Missense_Mutation_p.V267M|DNMT1_uc002mng.3_Missense_Mutation_p.V1343M|DNMT1_uc002mnh.3_Missense_Mutation_p.V1238M|DNMT1_uc010xld.2_Missense_Mutation_p.V1343M	p.V1359M	NM_001130823	NP_001124295	WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4255	-			1343			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.4075G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934194	0.92458	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85171	-1.95;-1.95;-1.95	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92773	0.7702	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93102	0.6509	10	0.62326	D	0.03	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1343;1359;1343	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	1359;1343;1343;1211	ENSP00000352516:V1359M;ENSP00000440457:V1343M;ENSP00000345739:V1343M	ENSP00000345739:V1343M	V	-	1	0	DNMT1	10110155	0.997000	0.39634	0.970000	0.41538	0.818000	0.46254	5.716000	0.68437	2.607000	0.88179	0.655000	0.94253	GTG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	175	0	0	0	1	0	5	175				
GCC2	9648	broad.mit.edu	37	2	109087511	109087511	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr2:109087511A>T	ENST00000309863.6	+	6	2440	c.1726A>T	c.(1726-1728)Agt>Tgt	p.S576C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	576					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAGTCTCAGTCAAAGAGA	0.289																																						uc002tec.3																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1726-1728)Agt>Tgt		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							26.0	28.0	27.0					2																	109087511		2007	4191	6198	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087511A>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1726A>T	2.37:g.109087511A>T	ENSP00000307939:p.Ser576Cys		Somatic				GCC2_uc002ted.3_Missense_Mutation_p.S475C	p.S576C	NM_181453	NP_852118	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			5	1880	+			576					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.1726A>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649241	0.29336	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.34275	1.37	5.62	3.22	0.36961	.	0.542701	0.20920	N	0.083300	T	0.29817	0.0745	L	0.44542	1.39	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.14364	-1.0475	10	0.59425	D	0.04	.	6.8432	0.23975	0.4111:0.4388:0.1501:0.0	.	576	Q8IWJ2	GCC2_HUMAN	C	576;539;321	ENSP00000307939:S576C	ENSP00000307939:S576C	S	+	1	0	GCC2	108453943	0.001000	0.12720	0.971000	0.41717	0.592000	0.36648	0.620000	0.24403	0.484000	0.27630	0.528000	0.53228	AGT		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		14	15	0	0	0	1	0	14	15				
PALM2	114299	broad.mit.edu	37	9	112705375	112705375	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr9:112705375G>A	ENST00000374531.2	+	7	884	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PALM2_ENST00000483909.1_Silent_p.P268P|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000448454.2_Silent_p.P304P|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Silent_p.P302P|PALM2-AKAP2_ENST00000302798.7_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	270					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTGCAGGGCCGGAGGCAAACT	0.502																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(904-906)ccG>ccA		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							74.0	75.0	75.0					9																	112705375		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112705375G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.810G>A	9.37:g.112705375G>A			Somatic				PALM2-AKAP2_uc004beg.3_Silent_p.P270P|PALM2-AKAP2_uc004beh.4_Silent_p.P302P|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.P302P	NM_001136562	NP_001130034	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			6	1098	+			558					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.906G>A	CCDS35099.1																																																																																				0.502	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	58	0	0	0	1	0	3	58				
AMBN	258	broad.mit.edu	37	4	71465351	71465351	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:71465351T>A	ENST00000322937.6	+	5	385	c.282T>A	c.(280-282)caT>caA	p.H94Q	AMBN_ENST00000449493.2_Missense_Mutation_p.H94Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGAGAACATGAAACTCAAC	0.383																																						uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(280-282)caT>caA		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							84.0	81.0	82.0					4																	71465351		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71465351T>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.282T>A	4.37:g.71465351T>A	ENSP00000313809:p.His94Gln		Somatic					p.H94Q	NM_016519	NP_057603	WXS	Illumina GAIIx	Phase_I	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		4	383	+			94					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.282T>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.272791	0.59649	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40225	1.04;1.04	5.72	-3.32	0.04973	.	0.372524	0.26079	N	0.026467	T	0.44350	0.1289	L	0.53249	1.67	0.31947	N	0.610116	D	0.89917	1.0	D	0.87578	0.998	T	0.49890	-0.8891	10	0.30078	T	0.28	-8.3376	1.047	0.01571	0.1361:0.2363:0.2806:0.347	.	94	Q9NP70	AMBN_HUMAN	Q	94	ENSP00000313809:H94Q;ENSP00000391234:H94Q	ENSP00000313809:H94Q	H	+	3	2	AMBN	71499940	0.968000	0.33430	0.988000	0.46212	0.655000	0.38815	-0.023000	0.12456	-0.405000	0.07599	0.482000	0.46254	CAT		0.383	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		5	79	0	0	0	1	0	5	79				
AKT1	207	broad.mit.edu	37	14	105242100	105242100	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:105242100G>A	ENST00000554581.1	-	4	1804	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.D108D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.3		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(322-324)gaC>gaT		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						118.0	78.0	92.0					14																	105242100		2203	4300	6503	SO:0001819	synonymous_variant	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242100G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.324C>T	14.37:g.105242100G>A			Somatic				AKT1_uc001ypl.3_Silent_p.D108D|AKT1_uc010axa.3_Silent_p.D108D|AKT1_uc001ypm.3_Silent_p.D108D|AKT1_uc001ypn.3_Silent_p.D108D|AKT1_uc010tyk.2_Silent_p.D46D	p.D108D	NM_005163	NP_005154	WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	878	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	108			PH.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.324C>T	CCDS9994.1																																																																																				0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		4	117	0	0	0	1	0	4	117				
ZNF211	10520	broad.mit.edu	37	19	58153415	58153415	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:58153415A>G	ENST00000347302.3	+	3	1740	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G	ZNF211_ENST00000420680.1_Missense_Mutation_p.S525G|ZNF211_ENST00000254182.7_Missense_Mutation_p.S512G|ZNF211_ENST00000391703.3_Missense_Mutation_p.S460G|ZNF211_ENST00000544273.1_Missense_Mutation_p.S533G|ZNF211_ENST00000240731.4_Missense_Mutation_p.S534G|ZNF211_ENST00000299871.5_Missense_Mutation_p.S586G|ZNF211_ENST00000541801.1_Missense_Mutation_p.S512G	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTAGCCAAAGTTCTAGCCT	0.438																																						uc002qpr.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1753-1755)Agt>Ggt		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							109.0	105.0	107.0					19																	58153415		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153415A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1561A>G	19.37:g.58153415A>G	ENSP00000339562:p.Ser521Gly		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.S525G|ZNF211_uc002qpp.2_Missense_Mutation_p.S534G|ZNF211_uc002qpq.2_Missense_Mutation_p.S521G|ZNF211_uc002qpt.2_Missense_Mutation_p.S533G|ZNF211_uc010yhc.1_Missense_Mutation_p.S533G|ZNF211_uc010yhe.1_Missense_Mutation_p.S512G|ZNF211_uc010yhd.1_Missense_Mutation_p.S460G	p.S585G	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	2056	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	521					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1753A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.39|15.39	2.818872|2.818872	0.50633|0.50633	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.01192	.|5.2;5.2;5.2;5.2;5.2;5.2;5.2;5.2	3.23|3.23	0.979|0.979	0.19745|0.19745	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.01222|0.01222	0.0040|0.0040	L|L	0.56396|0.56396	1.775|1.775	0.09310|0.09310	N|N	1|1	.|B;B;P;B;B;B	.|0.44429	.|0.035;0.101;0.835;0.055;0.031;0.031	.|B;B;B;B;B;B	.|0.35813	.|0.01;0.068;0.211;0.02;0.017;0.017	T|T	0.49418|0.49418	-0.8942|-0.8942	5|9	.|0.24483	.|T	.|0.36	.|.	4.8642|4.8642	0.13600|0.13600	0.526:0.3663:0.1077:0.0|0.526:0.3663:0.1077:0.0	.|.	.|525;533;586;512;521;534	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	R|G	524|525;521;512;460;512;586;533;534	.|ENSP00000399193:S525G;ENSP00000339562:S521G;ENSP00000254182:S512G;ENSP00000375584:S460G;ENSP00000442601:S512G;ENSP00000299871:S586G;ENSP00000441386:S533G;ENSP00000240731:S534G	.|ENSP00000240731:S534G	K|S	+|+	2|1	0|0	ZNF211|ZNF211	62845227|62845227	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.950000|0.950000	0.60333|0.60333	-0.310000|-0.310000	0.08135|0.08135	0.016000|0.016000	0.14998|0.14998	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.438	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			6	156	0	0	0	1	0	6	156				
MID2	11043	broad.mit.edu	37	X	107167660	107167660	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:107167660G>A	ENST00000262843.6	+	8	2071	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	MID2_ENST00000443968.2_Missense_Mutation_p.R478H|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	508	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGCGGGACTCGCTACATCTTC	0.458																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1522-1524)cGc>cAc		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							92.0	72.0	79.0					X																	107167660		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107167660G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1523G>A	X.37:g.107167660G>A	ENSP00000262843:p.Arg508His		Somatic				MID2_uc004enk.3_Missense_Mutation_p.R478H	p.R508H	NM_012216	NP_036348	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			7	2096	+			508			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1523G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758522	0.89843	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.57436	1.05;0.4	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.69078	0.997;0.977	P;P	0.56088	0.791;0.651	T	0.56177	-0.8022	10	0.51188	T	0.08	.	16.6313	0.85033	0.0:0.0:1.0:0.0	.	508;478	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	508;478	ENSP00000262843:R508H;ENSP00000413976:R478H	ENSP00000262843:R508H	R	+	2	0	MID2	107054316	0.975000	0.34042	0.998000	0.56505	0.986000	0.74619	3.792000	0.55476	2.536000	0.85505	0.600000	0.82982	CGC		0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	112	0	0	0	1	0	6	112				
NSD1	64324	broad.mit.edu	37	5	176636938	176636938	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176636938A>G	ENST00000439151.2	+	5	1583	c.1538A>G	c.(1537-1539)aAg>aGg	p.K513R	NSD1_ENST00000354179.4_Missense_Mutation_p.K244R|NSD1_ENST00000347982.4_Missense_Mutation_p.K244R|NSD1_ENST00000361032.4_Missense_Mutation_p.K410R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	513					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGTGAAAAAGGGCCACATA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1537-1539)aAg>aGg		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.							62.0	69.0	67.0					5																	176636938		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636938A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1538A>G	5.37:g.176636938A>G	ENSP00000395929:p.Lys513Arg	HNSCC(47;0.14)	Somatic				NSD1_uc003mft.4_Missense_Mutation_p.K244R|NSD1_uc003mfs.1_Missense_Mutation_p.K410R|NSD1_uc011dfx.2_Missense_Mutation_p.K161R	p.K513R	NM_022455	NP_071900	WXS	Illumina GAIIx	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	4	1676	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	513					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1538A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735030	0.69189	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96459	-3.89;-3.93;-3.89;-4.02	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000002	D	0.96237	0.8773	L	0.29908	0.895	0.31828	N	0.625073	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	D	0.95541	0.8612	9	.	.	.	.	14.0611	0.64800	1.0:0.0:0.0:0.0	.	244;410;513	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	244;244;513;244;410	ENSP00000346111:K244R;ENSP00000395929:K513R;ENSP00000343209:K244R;ENSP00000354310:K410R	.	K	+	2	0	NSD1	176569544	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.046000	0.71029	2.139000	0.66308	0.482000	0.46254	AAG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		3	87	0	0	0	1	0	3	87				
YME1L1	10730	broad.mit.edu	37	10	27420862	27420862	+	Missense_Mutation	SNP	G	G	A	rs199774208		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:27420862G>A	ENST00000326799.3	-	9	1103	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	YME1L1_ENST00000375972.3_Missense_Mutation_p.R229W|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262W|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGTTGTCCGGAAGCGGACT	0.368																																						uc001iti.3																			0		p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(955-957)Cgg>Tgg		Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							108.0	104.0	105.0					10																	27420862		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27420862G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.955C>T	10.37:g.27420862G>A	ENSP00000318480:p.Arg319Trp		Somatic				YME1L1_uc001itj.3_Missense_Mutation_p.R262W|YME1L1_uc010qdl.2_Missense_Mutation_p.R229W	p.R319W	NM_139312	NP_647473	WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			8	1165	-			319					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.955C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239288	0.58995	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93763	-3.26;-3.28;-3.21	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	M	0.74467	2.265	0.80722	D	1	P;D;B	0.89917	0.635;1.0;0.087	B;D;B	0.67103	0.049;0.949;0.039	D	0.95964	0.8964	10	0.87932	D	0	-4.4474	13.8619	0.63566	0.0:0.0:0.7325:0.2675	.	229;262;319	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	W	262;319;319;229;65;229	ENSP00000365184:R262W;ENSP00000318480:R319W;ENSP00000365139:R229W	ENSP00000318480:R319W	R	-	1	2	YME1L1	27460868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.406000	0.59748	2.744000	0.94065	0.650000	0.86243	CGG		0.368	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	85	0	0	0	1	0	3	85				
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		63	Substitution - Missense(63)	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61K	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		73	118	0	0	0	1	0	73	118				
CREB3L3	84699	broad.mit.edu	37	19	4157169	4157169	+	Missense_Mutation	SNP	G	G	A	rs145839480	byFrequency	TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:4157169G>A	ENST00000078445.2	+	3	481	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CREB3L3_ENST00000595923.1_Missense_Mutation_p.G111S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G102S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	112					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCCGCCGGCTGCCATCC	0.657													G|||	5	0.000998403	0.0038	0.0	5008	,	,		14040	0.0		0.0	False		,,,				2504	0.0					uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(334-336)Ggc>Agc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		G	SER/GLY	46,4360	49.6+/-84.7	0,46,2157	54.0	56.0	55.0		334	-2.5	0.0	19	dbSNP_134	55	0,8600		0,0,4300	yes	missense	CREB3L3	NM_032607.1	56	0,46,6457	AA,AG,GG		0.0,1.044,0.3537	benign	112/462	4157169	46,12960	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4157169G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.334G>A	19.37:g.4157169G>A	ENSP00000078445:p.Gly112Ser		Somatic				CREB3L3_uc002lzm.3_Missense_Mutation_p.G102S|CREB3L3_uc010xib.2_Missense_Mutation_p.G103S|CREB3L3_uc010xic.2_Missense_Mutation_p.G103S	p.G112S	NM_032607	NP_115996	WXS	Illumina GAIIx	Phase_I	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	450	+			112					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.334G>A	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.388	0.439782	0.12104	0.01044	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.85773	-2.03;-2.03	4.87	-2.5	0.06384	.	0.490824	0.22419	N	0.060311	T	0.59918	0.2229	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.32350	0.366;0.326;0.265;0.173	B;B;B;B	0.21708	0.036;0.022;0.03;0.013	T	0.57808	-0.7747	10	0.08599	T	0.76	-19.8742	8.6355	0.33945	0.5578:0.0:0.4422:0.0	.	112;112;111;112	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	112;112;102	ENSP00000078445:G112S;ENSP00000252587:G102S	ENSP00000078445:G112S	G	+	1	0	CREB3L3	4108169	0.000000	0.05858	0.009000	0.14445	0.010000	0.07245	-0.738000	0.04871	-0.381000	0.07882	0.430000	0.28490	GGC		0.657	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		6	124	0	0	0	1	0	6	124				
KIF6	221458	broad.mit.edu	37	6	39512314	39512314	+	Intron	SNP	C	C	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr6:39512314C>G	ENST00000287152.7	-	12	1521				KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373213.4_Intron|KIF6_ENST00000538893.1_Silent_p.V481V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTTTCTTCATCACTTCAGAAA	0.408																																						uc010jxb.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1441-1443)gtG>gtC		Homo sapiens kinesin family member 6 (KIF6), mRNA.							134.0	124.0	128.0					6																	39512314		2203	4299	6502	SO:0001627	intron_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39512314C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1426+16G>C	6.37:g.39512314C>G			Somatic				KIF6_uc010jxa.1_Intron|KIF6_uc003oot.2_Intron|KIF6_uc011dua.1_Intron	p.V481V	NM_145027	NP_659464	WXS	Illumina GAIIx	Phase_I	Q6ZMV9	KIF6_HUMAN			11	1538	-			481					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1443G>C	CCDS4844.1																																																																																				0.408	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		4	49	0	0	0	1	0	4	49				
ZNF33B	7582	broad.mit.edu	37	10	43089114	43089114	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:43089114G>A	ENST00000359467.3	-	5	1398	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTTTAGTGAGGTCAGATT	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1282-1284)ctC>ctT		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							108.0	108.0	108.0					10																	43089114		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089114G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1284C>T	10.37:g.43089114G>A			Somatic				ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L316L|ZNF33B_uc001jad.3_Intron	p.L428L	NM_006955	NP_008886	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			4	1399	-			428					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1284C>T	CCDS7198.1																																																																																				0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		65	96	0	0	0	1	0	65	96				
ZNF692	55657	broad.mit.edu	37	1	249151529	249151529	+	Missense_Mutation	SNP	T	T	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:249151529T>G	ENST00000306601.4	-	4	545	c.379A>C	c.(379-381)Agc>Cgc	p.S127R	ZNF692_ENST00000366469.5_Missense_Mutation_p.S127R|ZNF692_ENST00000427146.1_Missense_Mutation_p.S127R|ZNF692_ENST00000451251.1_Missense_Mutation_p.S132R|ZNF692_ENST00000366471.3_Missense_Mutation_p.S127R|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTGTAGGGCTCAAAGAGGGT	0.637																																						uc010pzr.2																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(394-396)Agc>Cgc		Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 1, mRNA.							95.0	97.0	96.0					1																	249151529		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151529T>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.379A>C	1.37:g.249151529T>G	ENSP00000305483:p.Ser127Arg		Somatic				ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc001ifc.2_Missense_Mutation_p.S127R|ZNF692_uc001iff.2_Missense_Mutation_p.S127R	p.S132R	NM_001136036	NP_060335	WXS	Illumina GAIIx	Phase_I	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	806	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	127					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.394A>C	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995091	0.35226	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251;ENST00000496231	T;T;T;T;T	0.08282	3.16;3.14;3.14;3.11;3.13	4.12	0.908	0.19326	.	0.666587	0.14389	N	0.322631	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.45308	-0.9270	10	0.15499	T	0.54	-0.0631	2.4558	0.04529	0.23:0.4915:0.0:0.2786	.	132;127;127	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	R	127;127;127;127;132;127	ENSP00000305483:S127R;ENSP00000390044:S127R;ENSP00000355427:S127R;ENSP00000355425:S127R;ENSP00000391200:S132R	ENSP00000305483:S127R	S	-	1	0	ZNF692	247118152	0.001000	0.12720	0.007000	0.13788	0.409000	0.31022	-0.031000	0.12287	0.188000	0.20168	0.519000	0.50382	AGC		0.637	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		54	81	0	0	0	1	0	54	81				
KLHL35	283212	broad.mit.edu	37	11	75134897	75134897	+	Missense_Mutation	SNP	G	G	A	rs373616347		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:75134897G>A	ENST00000539798.1	-	5	1401	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	KLHL35_ENST00000376292.4_Missense_Mutation_p.R248W	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	468										lung(2)|stomach(1)	3						AGGCTCCACCGGTCCTCCTTG	0.612																																					Colon(77;683 1691 18820 23811)	uc001owm.2																			0				lung(2)|stomach(1)	3						c.(1402-1404)Cgg>Tgg		Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.		G	TRP/ARG	1,4059		0,1,2029	42.0	49.0	46.0		1402	3.0	0.9	11		46	0,8382		0,0,4191	no	missense	KLHL35	NM_001039548.2	101	0,1,6220	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	468/584	75134897	1,12441	2030	4191	6221	SO:0001583	missense	283212							g.chr11:75134897G>A		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1402C>T	11.37:g.75134897G>A	ENSP00000438526:p.Arg468Trp		Somatic					p.R468W	NM_001039548	NP_001034637	WXS	Illumina GAIIx	Phase_I	Q6PF15	KLH35_HUMAN			4	1402	-			248					A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	c.1402C>T	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979734	0.74360	2.46E-4	0.0	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.78481	-1.18;-1.18	5.05	3.0	0.34707	Kelch-type beta propeller (1);	1.363190	0.04929	N	0.456394	D	0.84088	0.5395	M	0.73430	2.235	0.25828	N	0.984205	P	0.50066	0.931	P	0.51453	0.67	T	0.69269	-0.5189	10	0.87932	D	0	.	10.376	0.44081	0.0:0.0:0.5192:0.4808	.	248	Q6PF15	KLH35_HUMAN	W	248;468	ENSP00000365469:R248W;ENSP00000438526:R468W	ENSP00000365469:R248W	R	-	1	2	KLHL35	74812545	0.801000	0.28930	0.931000	0.37212	0.953000	0.61014	1.136000	0.31467	1.328000	0.45358	0.603000	0.83216	CGG		0.612	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		3	28	0	0	0	1	0	3	28				
FAM76B	143684	broad.mit.edu	37	11	95522617	95522617	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:95522617C>G	ENST00000358780.5	-	1	338	c.26G>C	c.(25-27)tGc>tCc	p.C9S	CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000538047.1_5'Flank|CEP57_ENST00000538658.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C9S|CEP57_ENST00000325486.5_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	9						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACACTTGGTGCAGGCGTACAG	0.711																																						uc001pfn.2																			0				breast(1)|kidney(1)|lung(1)	3						c.(25-27)tGc>tCc		Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.							21.0	30.0	27.0					11																	95522617		1964	4175	6139	SO:0001583	missense	143684							g.chr11:95522617C>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.26G>C	11.37:g.95522617C>G	ENSP00000351631:p.Cys9Ser		Somatic				CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript	p.C9S	NM_144664	NP_653265	WXS	Illumina GAIIx	Phase_I	Q5HYJ3	FA76B_HUMAN			0	338	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	9					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.26G>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102929	0.94245	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82024	-0.0662	9	0.87932	D	0	-0.2189	18.1911	0.89807	0.0:1.0:0.0:0.0	.	9	Q5HYJ3	FA76B_HUMAN	S	9	.	ENSP00000351631:C9S	C	-	2	0	FAM76B	95162265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.309000	0.78937	2.294000	0.77228	0.561000	0.74099	TGC		0.711	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		5	24	0	0	0	1	0	5	24				
PDLIM7	9260	broad.mit.edu	37	5	176919616	176919616	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176919616G>A	ENST00000355841.2	-	3	225	c.159C>T	c.(157-159)atC>atT	p.I53I	PDLIM7_ENST00000356618.4_Silent_p.I53I|PDLIM7_ENST00000359895.2_Silent_p.I53I|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000393551.1_Silent_p.I53I|PDLIM7_ENST00000355572.2_Silent_p.I53I	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	53	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCGCCATCGATGCTCAGCA	0.652																																						uc003mhc.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(157-159)atC>atT		Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA.							57.0	57.0	57.0					5																	176919616		2203	4300	6503	SO:0001819	synonymous_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176919616G>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.159C>T	5.37:g.176919616G>A			Somatic				PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.I53I|PDLIM7_uc003mhf.3_Silent_p.I53I|PDLIM7_uc003mhg.1_Silent_p.I53I	p.I53I	NM_005451	NP_005442	WXS	Illumina GAIIx	Phase_I	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	244	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	53			PDZ.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	c.159C>T	CCDS4422.1																																																																																				0.652	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		4	141	0	0	0	1	0	4	141				
ZNF839	55778	broad.mit.edu	37	14	102807889	102807890	+	Frame_Shift_Del	DEL	GG	GG	-	rs567097366		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:102807889_102807890delGG	ENST00000558850.1	+	8	2159_2160	c.1809_1810delGG	c.(1807-1812)caggtgfs	p.QV603fs	ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.QV603fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.QV719fs|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.QV605fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	603							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGGCACAGGTGGCAGCGTT	0.589																																						uc010awk.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(2155-2160)caggtgfs		Homo sapiens zinc finger protein 839 (ZNF839), mRNA.																																				SO:0001589	frameshift_variant	55778					intracellular	zinc ion binding	g.chr14:102807889_102807890delGG	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1809_1810delGG	14.37:g.102807889_102807890delGG	ENSP00000453363:p.Gln603fs		Somatic				ZNF839_uc001ylo.2_Frame_Shift_Del_p.Q603fs|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Frame_Shift_Del_p.Q528fs|ZNF839_uc001yls.2_Frame_Shift_Del_p.Q220fs|ZNF839_uc001ylt.2_Frame_Shift_Del_p.Q193fs	p.Q719fs	NM_018335	NP_060805	WXS	Illumina GAIIx	Phase_I	A8K0R7	ZN839_HUMAN			7	2164_2165	+			603					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	c.2157_2158delGG	CCDS58336.1																																																																																				0.589	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		7	11						7	11	---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43446993	43446995	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:43446993_43446995delCAG	ENST00000260403.2	+	9	1425_1427	c.1146_1148delCAG	c.(1144-1149)tacagt>tat	p.S384del		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	384						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTAGAAACTACAGTAGTGGGACA	0.379																																						uc001zqr.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1144-1149)tacagt>tat		Homo sapiens transmembrane protein 62 (TMEM62), mRNA.																																				SO:0001651	inframe_deletion	80021					integral to membrane		g.chr15:43446993_43446995delCAG	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1146_1148delCAG	15.37:g.43446993_43446995delCAG	ENSP00000260403:p.Ser384del		Somatic				TMEM62_uc010bda.3_In_Frame_Del_p.S254del	p.S384del	NM_024956	NP_079232	WXS	Illumina GAIIx	Phase_I	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1425_1427	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	384					Q6I9Y5|Q9H5J6	In_Frame_Del	DEL	ENST00000260403.2	37	c.1146_1148delCAG	CCDS32210.1																																																																																				0.379	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		15	29						15	29	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63901361	63901361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:63901361delG	ENST00000443617.2	-	78	14592	c.14505delC	c.(14503-14505)aacfs	p.N4836fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4836	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCGGCAGTTGTTGATGGCAT	0.602																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14503-14505)aacfs		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							68.0	74.0	72.0					15																	63901361		2133	4226	6359	SO:0001589	frameshift_variant	8925				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	g.chr15:63901361delG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14505delC	15.37:g.63901361delG	ENSP00000390158:p.Asn4836fs		Somatic				HERC1_uc002amo.3_Non-coding_Transcript	p.N4835fs	NM_003922	NP_003913	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			77	14653	-			4835			HECT.		Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	c.14505delC	CCDS45277.1																																																																																				0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	24						20	24	---	---	---	---
