#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COA1	55744	broad.mit.edu	37	7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	rs371645573		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:43687182C>T	ENST00000395879.1	-	2	1748	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	23					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.G23S(1)									TAGAACACACCGTGGAAAAGG	0.493																																						ENST00000395879.1																			1	Substitution - Missense(1)	p.G23S(1)	prostate(1)								c.(67-69)Ggt>Agt		cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)							73.0	76.0	75.0					7																	43687182		2203	4300	6503	SO:0001583	missense	55744							g.chr7:43687182C>T	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.67G>A	7.37:g.43687182C>T	ENSP00000379218:p.Gly23Ser					COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000395880.3_Missense_Mutation_p.G23S	p.G23S							2	1748	-								A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	c.67G>A	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560970	0.03939	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.87	-6.87	0.01671	.	1.318910	0.04939	N	0.458307	T	0.13286	0.0322	N	0.04959	-0.14	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.28586	-1.0039	10	0.18276	T	0.48	-11.6053	11.481	0.50326	0.0957:0.5761:0.0:0.3281	.	23	Q9GZY4	CG044_HUMAN	S	23	ENSP00000379218:G23S;ENSP00000312100:G23S;ENSP00000379219:G23S;ENSP00000223336:G23S;ENSP00000405582:G23S;ENSP00000417046:G23S	ENSP00000223336:G23S	G	-	1	0	C7orf44	43653707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-2.495000	0.00514	-3.352000	0.00042	GGT		0.493	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		32	62	0	0	0	1	0	32	62				
ZNF551	90233	broad.mit.edu	37	19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G	rs201814536		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	ENST00000282296.5	+	3	495	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	104					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTCACCTCAGTGAGATTAA	0.478																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(310-312)Agt>Ggt		zinc finger protein 551							124.0	120.0	122.0					19																	58197953		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58197953A>G	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.310A>G	19.37:g.58197953A>G	ENSP00000282296:p.Ser104Gly					ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron	p.S104G	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	495	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	104					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.310A>G	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	A	7.916	0.737574	0.15574	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	-1.66	0.08265	.	.	.	.	.	T	0.15478	0.0373	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	8	0.27082	T	0.32	.	2.3828	0.04358	0.4261:0.1576:0.0:0.4163	.	104	Q7Z340	ZN551_HUMAN	G	104;88	.	ENSP00000282296:S88G	S	+	1	0	ZNF551	62889765	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.726000	0.04936	-0.579000	0.05952	-0.531000	0.04308	AGT		0.478	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		59	51	0	0	0	1	0	59	51				
KIAA1024	23251	broad.mit.edu	37	15	79749239	79749239	+	Silent	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	ENST00000305428.3	+	2	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	250						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(748-750)gtC>gtT		KIAA1024							70.0	74.0	73.0					15																	79749239		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749239C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.750C>T	15.37:g.79749239C>T							p.V250V	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	825	+			250					A7MD43	Silent	SNP	ENST00000305428.3	37	c.750C>T	CCDS32306.1																																																																																				0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		27	76	0	0	0	1	0	27	76				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	7	0	0	0	1	0	3	7				
NMBR	4829	broad.mit.edu	37	6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	ENST00000258042.1	-	3	918	c.778A>T	c.(778-780)Aca>Tca	p.T260S	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	260					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(778-780)Aca>Tca		neuromedin B receptor							57.0	50.0	52.0					6																	142397180		2203	4298	6501	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397180T>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.778A>T	6.37:g.142397180T>A	ENSP00000258042:p.Thr260Ser						p.T260S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	918	-	Breast(32;0.155)		260					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.778A>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	5.675	0.309067	0.10733	.	.	ENSG00000135577	ENST00000258042	T	0.70516	-0.49	5.3	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.088129	0.85682	N	0.000000	T	0.20455	0.0492	N	0.01679	-0.765	0.49687	D	0.999814	B	0.20052	0.041	B	0.31101	0.124	T	0.31138	-0.9954	10	0.02654	T	1	-9.4469	11.7695	0.51949	0.132:0.0:0.0:0.868	.	260	P28336	NMBR_HUMAN	S	260	ENSP00000258042:T260S	ENSP00000258042:T260S	T	-	1	0	NMBR	142438873	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	0.929000	0.37192	-0.336000	0.08194	ACA		0.388	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			25	51	0	0	0	1	0	25	51				
ZC3H6	376940	broad.mit.edu	37	2	113089666	113089666	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	ENST00000409871.1	+	12	3572	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1057							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3169-3171)tcA>tcG		zinc finger CCCH-type containing 6							65.0	58.0	60.0					2																	113089666		1903	4127	6030	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113089666A>G	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3171A>G	2.37:g.113089666A>G						ZC3H6_ENST00000343936.4_Silent_p.S1057S	p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3572	+			1057					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.3171A>G	CCDS46393.1																																																																																				0.443	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		16	23	0	0	0	1	0	16	23				
TTN	7273	broad.mit.edu	37	2	179410161	179410161	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	ENST00000591111.1	-	294	90977	c.90753T>C	c.(90751-90753)agT>agC	p.S30251S	TTN_ENST00000342992.6_Silent_p.S29324S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S23019S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.S31892S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30251	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGGGCTCACTGTTACCAG	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95674-95676)agT>agC		titin							143.0	145.0	144.0					2																	179410161		2014	4177	6191	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410161A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90753T>C	2.37:g.179410161A>G						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S30251S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.S29324S|TTN_ENST00000342175.6_Silent_p.S23019S|TTN-AS1_ENST00000586707.1_RNA	p.S31892S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		344	95900	-			30251			Ig-like 141.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.95676T>C																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	90	0	0	0	1	0	50	90				
MYBPC2	4606	broad.mit.edu	37	19	50965235	50965235	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:50965235G>T	ENST00000357701.5	+	26	3221	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1057	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCATAGACCGCGTGGTCGTG	0.592											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357701.5																			0				breast(1)	1						c.(3169-3171)cGc>cTc		myosin binding protein C, fast type							47.0	48.0	47.0					19																	50965235		2033	4173	6206	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50965235G>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.3170G>T	19.37:g.50965235G>T	ENSP00000350332:p.Arg1057Leu		OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973		p.R1057L	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	26	3221	+		all_neural(266;0.057)	1057			Ig-like C2-type 7.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.3170G>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	30	5.055413	0.93793	.	.	ENSG00000086967	ENST00000357701	T	0.63913	-0.07	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.33572	U	0.004775	T	0.67040	0.2851	L	0.31207	0.915	0.47862	D	0.999534	D	0.76494	0.999	D	0.80764	0.994	T	0.60296	-0.7291	10	0.11794	T	0.64	.	17.0118	0.86408	0.0:0.0:1.0:0.0	.	1057	Q14324	MYPC2_HUMAN	L	1057	ENSP00000350332:R1057L	ENSP00000350332:R1057L	R	+	2	0	MYBPC2	55657047	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	8.989000	0.93506	2.382000	0.81193	0.550000	0.68814	CGC		0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		2	0	1	0	1	1	1	2	0				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	123	0	0	0	1	0	4	123				
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44.0	56.0	52.0					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	119	0	0	0	1	0	9	119				
CLDN11	5010	broad.mit.edu	37	3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	ENST00000064724.3	+	2	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602																																						ENST00000064724.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12						c.(337-339)Ggt>Agt		claudin 11							86.0	82.0	84.0					3																	170141061		2203	4300	6503	SO:0001583	missense	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170141061G>A	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.337G>A	3.37:g.170141061G>A	ENSP00000064724:p.Gly113Ser					CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S	p.G113S	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	539	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		113					B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	c.337G>A	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871874	0.51695	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.88201	-2.35;-2.35;-2.35	5.81	5.81	0.92471	.	0.105804	0.64402	D	0.000004	D	0.85932	0.5812	N	0.05414	-0.055	0.45161	D	0.998174	D;B	0.67145	0.996;0.155	P;B	0.57679	0.825;0.041	T	0.82723	-0.0316	10	0.11794	T	0.64	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	113;113	B4DFI2;O75508	.;CLD11_HUMAN	S	113	ENSP00000064724:G113S;ENSP00000417434:G113S;ENSP00000410185:G113S	ENSP00000064724:G113S	G	+	1	0	CLDN11	171623755	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	3.384000	0.52478	2.752000	0.94435	0.557000	0.71058	GGT		0.602	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		52	106	0	0	0	1	0	52	106				
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(751-753)cGa>cAa		F-box and leucine-rich repeat protein 3							110.0	105.0	107.0					13																	77581815		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581815C>T	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.752G>A	13.37:g.77581815C>T	ENSP00000347834:p.Arg251Gln					FBXL3_ENST00000477982.1_Intron	p.R251Q	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1076	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	251					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.752G>A	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672518	0.47781	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52526	0.66;0.67	6.06	6.06	0.98353	.	0.053607	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.45607	D	0.998544	P	0.37158	0.585	B	0.21917	0.037	T	0.12915	-1.0529	10	0.13470	T	0.59	-8.7962	20.6208	0.99490	0.0:1.0:0.0:0.0	.	251	Q9UKT7	FBXL3_HUMAN	Q	251;203	ENSP00000347834:R251Q;ENSP00000412183:R203Q	ENSP00000347834:R251Q	R	-	2	0	FBXL3	76479816	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.745000	0.68672	2.882000	0.98803	0.655000	0.94253	CGA		0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			23	42	0	0	0	1	0	23	42				
BZRAP1	9256	broad.mit.edu	37	17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	ENST00000343736.4	-	18	3198	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1012S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1012	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGACACCGTTGGATGTGCC	0.602																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3034-3036)aAc>aGc		benzodiazapine receptor (peripheral) associated protein 1							84.0	73.0	77.0					17																	56388978		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388978T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3035A>G	17.37:g.56388978T>C	ENSP00000345824:p.Asn1012Ser					BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1012S	p.N1012S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			18	3905	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1012			Fibronectin type-III 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3035A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850303	0.91277	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.46819	0.86;0.86;0.86	5.38	5.38	0.77491	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.72118	2.19	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.992	T	0.70171	-0.4945	10	0.56958	D	0.05	.	14.8662	0.70419	0.0:0.0:0.0:1.0	.	1012;952;1012	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1012;1012;952	ENSP00000347929:N1012S;ENSP00000345824:N1012S;ENSP00000268893:N952S	ENSP00000268893:N952S	N	-	2	0	BZRAP1	53743977	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.965000	0.87945	2.176000	0.68965	0.455000	0.32223	AAC		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		37	87	0	0	0	1	0	37	87				
KIF4A	24137	broad.mit.edu	37	X	69615591	69615591	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	ENST00000374403.3	+	21	2385	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	768	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2302-2304)cTt>cGt		kinesin family member 4A							73.0	65.0	68.0					X																	69615591		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69615591T>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2303T>G	X.37:g.69615591T>G	ENSP00000363524:p.Leu768Arg					KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			21	2385	+			768			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2303T>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.251002	0.80135	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70986	-0.53;-0.5	5.3	5.3	0.74995	.	0.115243	0.39341	N	0.001393	T	0.79930	0.4531	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81728	-0.0800	10	0.72032	D	0.01	.	13.4384	0.61096	0.0:0.0:0.0:1.0	.	768	O95239	KIF4A_HUMAN	R	768;768;70	ENSP00000363509:L768R;ENSP00000363524:L768R	ENSP00000363509:L768R	L	+	2	0	KIF4A	69532316	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	1.968000	0.57251	0.478000	0.44815	CTT		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		41	55	0	0	0	1	0	41	55				
BOD1L1	259282	broad.mit.edu	37	4	13603085	13603085	+	Silent	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:13603085G>A	ENST00000040738.5	-	10	5574	c.5439C>T	c.(5437-5439)agC>agT	p.S1813S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1813						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAAAGCCTTCGCTGCTATCTT	0.488																																						ENST00000040738.5																			0											c.(5437-5439)agC>agT		biorientation of chromosomes in cell division 1-like 1							139.0	147.0	144.0					4																	13603085		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603085G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5439C>T	4.37:g.13603085G>A							p.S1813S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5574	-			1813					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5439C>T	CCDS3411.2																																																																																				0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		23	174	0	0	0	1	0	23	174				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	48	0	0	0	1	0	15	48				
WIPI2	26100	broad.mit.edu	37	7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	ENST00000288828.4	+	6	794	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N|WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	188					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(562-564)Gat>Aat		WD repeat domain, phosphoinositide interacting 2							171.0	135.0	147.0					7																	5256804		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5256804G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.562G>A	7.37:g.5256804G>A	ENSP00000288828:p.Asp188Asn					WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N|WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N	p.D188N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	6	794	+		Ovarian(82;0.0175)	188					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.562G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128242	0.94473	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.73363	0.09;0.09;0.09;0.09;-0.74	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045241	0.85682	D	0.000000	D	0.87513	0.6196	M	0.82132	2.575	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.917;1.0;0.999;0.999;0.998	D;P;D;D;D;P	0.97110	1.0;0.565;1.0;0.923;0.923;0.84	D	0.86656	0.1901	10	0.46703	T	0.11	-38.1141	20.0114	0.97452	0.0:0.0:1.0:0.0	.	182;129;170;170;188;188	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	N	188;170;188;170;129;182	ENSP00000288828:D188N;ENSP00000384945:D170N;ENSP00000385297:D188N;ENSP00000371821:D170N;ENSP00000429654:D129N	ENSP00000288828:D188N	D	+	1	0	WIPI2	5223330	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.476000	0.97823	2.724000	0.93272	0.555000	0.69702	GAT		0.527	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		17	34	0	0	0	1	0	17	34				
FOXP2	93986	broad.mit.edu	37	7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	ENST00000393494.2	+	10	1542	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000393500.3_Missense_Mutation_p.K346N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|MIR3666_ENST00000607845.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1036-1038)aaA>aaT		forkhead box P2							164.0	151.0	156.0					7																	114294061		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114294061A>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1263A>T	7.37:g.114294061A>T	ENSP00000377132:p.Lys421Asn					FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393494.2_Missense_Mutation_p.K421N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N	p.K346N			O15409	FOXP2_HUMAN			16	1858	+			421					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1038A>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583102	0.65992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.65732	-0.17;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.34521	1.04	0.80722	D	1	P;P;B;D;D;P;D	0.61697	0.948;0.948;0.237;0.969;0.99;0.948;0.969	P;P;B;P;P;P;P	0.53313	0.533;0.533;0.143;0.634;0.723;0.533;0.723	T	0.66563	-0.5892	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	420;438;329;421;445;421;446	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	346;421;446;438;421;398;329;421;445;329	ENSP00000377137:K346N;ENSP00000377132:K421N;ENSP00000386200:K446N;ENSP00000385069:K438N;ENSP00000265436:K421N;ENSP00000377129:K329N;ENSP00000353367:K421N;ENSP00000375084:K445N;ENSP00000377130:K329N	ENSP00000265436:K421N	K	+	3	2	FOXP2	114081297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	AAA		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		29	73	0	0	0	1	0	29	73				
KEL	3792	broad.mit.edu	37	7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A	rs565926203		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	ENST00000355265.2	-	19	2572	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	700					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTGGACTCGGAGGTGTGGA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17138	0.0		0.0	False		,,,				2504	0.0					ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(2098-2100)Cga>Tga		Kell blood group, metallo-endopeptidase							101.0	106.0	104.0					7																	142638440		2203	4300	6503	SO:0001587	stop_gained	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638440G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2098C>T	7.37:g.142638440G>A	ENSP00000347409:p.Arg700*						p.R700*	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			19	2572	-	Melanoma(164;0.059)		700					B2RBV4|Q96RS8|Q99885	Nonsense_Mutation	SNP	ENST00000355265.2	37	c.2098C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	40	7.946756	0.98577	.	.	ENSG00000197993	ENST00000355265	.	.	.	4.77	4.77	0.60923	.	0.000000	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0291	13.1516	0.59492	0.0:0.0:1.0:0.0	.	.	.	.	X	700	.	ENSP00000347409:R700X	R	-	1	2	KEL	142348562	0.907000	0.30839	0.770000	0.31555	0.154000	0.21943	5.129000	0.64739	2.475000	0.83589	0.651000	0.88453	CGA		0.622	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		57	133	0	0	0	1	0	57	133				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	126	0	0	0	1	0	4	126				
CROT	54677	broad.mit.edu	37	7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	ENST00000331536.3	+	9	973	c.788T>C	c.(787-789)tTg>tCg	p.L263S	CROT_ENST00000442291.1_Missense_Mutation_p.L263S|CROT_ENST00000419147.2_Missense_Mutation_p.L291S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	263					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(787-789)tTg>tCg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						84.0	83.0	83.0					7																	87005181		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87005181T>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.788T>C	7.37:g.87005181T>C	ENSP00000331981:p.Leu263Ser					CROT_ENST00000419147.2_Missense_Mutation_p.L291S|CROT_ENST00000442291.1_Missense_Mutation_p.L263S	p.L263S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			9	973	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		263					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.788T>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	0.344	-0.948888	0.02304	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88509	-2.39;-2.39;-2.39	5.48	5.48	0.80851	.	0.469748	0.23303	N	0.049644	D	0.82829	0.5122	L	0.46157	1.445	0.28044	N	0.933617	B;B	0.31290	0.097;0.318	B;B	0.24006	0.05;0.034	T	0.74503	-0.3644	10	0.27785	T	0.31	-6.4414	10.2563	0.43399	0.0:0.0742:0.0:0.9258	.	291;263	E7EQF2;Q9UKG9	.;OCTC_HUMAN	S	291;263;263	ENSP00000413575:L291S;ENSP00000331981:L263S;ENSP00000411983:L263S	ENSP00000331981:L263S	L	+	2	0	CROT	86843117	0.998000	0.40836	0.912000	0.35992	0.050000	0.14768	3.054000	0.49908	2.197000	0.70478	0.533000	0.62120	TTG		0.368	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		11	39	0	0	0	1	0	11	39				
TPH1	7166	broad.mit.edu	37	11	18050813	18050813	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:18050813G>C	ENST00000250018.2	-	5	1128	c.566C>G	c.(565-567)gCt>gGt	p.A189G	TPH1_ENST00000341556.2_Missense_Mutation_p.A189G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	189					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CTCTCTGCAAGCATGGGTTGG	0.403																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(565-567)gCt>gGt		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						238.0	245.0	243.0					11																	18050813		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18050813G>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.566C>G	11.37:g.18050813G>C	ENSP00000250018:p.Ala189Gly					TPH1_ENST00000341556.2_Missense_Mutation_p.A189G	p.A189G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			5	1128	-			189					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.566C>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472023	0.96274	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99822	-6.94;-6.94	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96472	0.9349	10	0.87932	D	0	-18.312	20.0942	0.97832	0.0:0.0:1.0:0.0	.	189	P17752	TPH1_HUMAN	G	189	ENSP00000250018:A189G;ENSP00000343550:A189G	ENSP00000250018:A189G	A	-	2	0	TPH1	18007389	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.765000	0.98953	2.756000	0.94617	0.650000	0.86243	GCT		0.403	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	325	0	0	0	1	0	5	325				
ZNF24	7572	broad.mit.edu	37	18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr18:32917323C>A	ENST00000261332.6	-	4	1159	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	327					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R327I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			1	Substitution - Missense(1)	p.R327I(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(979-981)aGa>aTa		zinc finger protein 24							109.0	110.0	110.0					18																	32917323		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917323C>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.980G>T	18.37:g.32917323C>A	ENSP00000261332:p.Arg327Ile					ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I	p.R327I	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	1159	-			327					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.980G>T	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532919	0.64972	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.24908	1.83;1.83	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000010	T	0.47395	0.1443	M	0.72479	2.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.68353	0.957	T	0.45804	-0.9236	10	0.87932	D	0	.	11.7701	0.51953	0.0:0.823:0.177:0.0	.	327	P17028	ZNF24_HUMAN	I	327	ENSP00000261332:R327I;ENSP00000382015:R327I	ENSP00000261332:R327I	R	-	2	0	ZNF24	31171321	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.184000	0.50926	2.679000	0.91253	0.655000	0.94253	AGA		0.413	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		4	50	1	0	0.184627	1	0.188641	4	50				
PRX	57716	broad.mit.edu	37	19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587																																						ENST00000324001.7																			1	Substitution - Missense(1)	p.A823V(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2467-2469)gCg>gTg		periaxin							92.0	82.0	85.0					19																	40901791		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901791G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2468C>T	19.37:g.40901791G>A	ENSP00000326018:p.Ala823Val					PRX_ENST00000291825.7_3'UTR	p.A823V	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2738	-			823					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2468C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303864	0.10678	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01192	5.2	5.15	1.49	0.22878	.	0.297914	0.24107	N	0.041497	T	0.00784	0.0026	N	0.17082	0.46	0.09310	N	0.999999	B	0.23316	0.083	B	0.23018	0.043	T	0.49969	-0.8882	10	0.20519	T	0.43	-13.0857	5.0452	0.14480	0.2711:0.1659:0.5629:0.0	.	823	Q9BXM0	PRAX_HUMAN	V	823	ENSP00000326018:A823V	ENSP00000326018:A823V	A	-	2	0	PRX	45593631	0.061000	0.20836	0.784000	0.31847	0.310000	0.27922	0.457000	0.21875	1.165000	0.42670	0.655000	0.94253	GCG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	79	0	0	0	1	0	9	79				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	45	0	0	0	1	0	4	45				
MAGEB1	4112	broad.mit.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	ENST00000378981.3	+	4	1294	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527																																						ENST00000378981.3																			1	Substitution - Missense(1)	p.R325C(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(973-975)Cgt>Tgt		melanoma antigen family B, 1							89.0	78.0	82.0					X																	30269583		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269583C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.973C>T	X.37:g.30269583C>T	ENSP00000368264:p.Arg325Cys					MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C	p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	1294	+			325					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.973C>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155363	0.21454	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01613	4.73;4.73;4.73	3.55	-1.44	0.08856	.	2.591500	0.02042	N	0.049376	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.47724	-0.9095	10	0.54805	T	0.06	.	5.491	0.16777	0.0:0.3987:0.2058:0.3955	.	325	P43366	MAGB1_HUMAN	C	325	ENSP00000368264:R325C;ENSP00000380683:R325C;ENSP00000380681:R325C	ENSP00000368264:R325C	R	+	1	0	MAGEB1	30179504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.869000	0.01643	-0.535000	0.06307	-0.322000	0.08575	CGT		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		41	89	0	0	0	1	0	41	89				
BRWD3	254065	broad.mit.edu	37	X	79942476	79942476	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	ENST00000373275.4	-	35	4107	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1297					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACACTTTAAAGACTGTCTTC	0.383																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3889-3891)tcT>tcC		bromodomain and WD repeat domain containing 3							129.0	112.0	118.0					X																	79942476		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79942476A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3891T>C	X.37:g.79942476A>G						BRWD3_ENST00000473691.1_5'UTR	p.S1297S	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			35	4107	-			1297					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3891T>C	CCDS14447.1																																																																																				0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	38	0	0	0	1	0	12	38				
BARX1	56033	broad.mit.edu	37	9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	ENST00000253968.6	-	4	947	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	241					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682																																						ENST00000253968.6																			0				endometrium(1)	1						c.(721-723)gCg>gTg		BARX homeobox 1							31.0	29.0	29.0					9																	96714489		2203	4300	6503	SO:0001583	missense	56033					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:96714489G>A		CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"""Homeoboxes / ANTP class : NKL subclass"""	955	protein-coding gene	gene with protein product		603260	"""BarH-like homeobox 1"""				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.722C>T	9.37:g.96714489G>A	ENSP00000253968:p.Ala241Val					BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	p.A241V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN			4	947	-			241					Q6P2R4|Q96GH8	Missense_Mutation	SNP	ENST00000253968.6	37	c.722C>T	CCDS35070.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772949	0.31411	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	D;D	0.96365	-3.05;-3.99	5.67	4.78	0.61160	.	0.450566	0.24027	N	0.042238	D	0.88020	0.6325	N	0.08118	0	0.32023	N	0.600566	P	0.39404	0.672	B	0.23018	0.043	D	0.88281	0.2936	10	0.31617	T	0.26	.	13.7572	0.62943	0.0735:0.0:0.9265:0.0	.	241	Q9HBU1	BARX1_HUMAN	V	241;87	ENSP00000253968:A241V;ENSP00000385613:A87V	ENSP00000253968:A241V	A	-	2	0	BARX1	95754310	0.013000	0.17824	0.936000	0.37596	0.053000	0.15095	0.892000	0.28322	1.409000	0.46915	0.561000	0.74099	GCG		0.682	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053164.4			15	28	0	0	0	1	0	15	28				
SOGA1	140710	broad.mit.edu	37	20	35445831	35445831	+	Silent	SNP	G	G	T	rs373774469		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr20:35445831G>T	ENST00000357779.3	-	4	725	c.399C>A	c.(397-399)gcC>gcA	p.A133A	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Silent_p.A133A|SOGA1_ENST00000237536.4_Silent_p.A371A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	133					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTTCTTATCGGCCTTCCCCA	0.458																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1111-1113)gcC>gcA		suppressor of glucose, autophagy associated 1							38.0	38.0	38.0					20																	35445831		1818	4070	5888	SO:0001819	synonymous_variant	140710							g.chr20:35445831G>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.399C>A	20.37:g.35445831G>T						SOGA1_ENST00000357779.3_Silent_p.A133A|SOGA1_ENST00000279034.5_Silent_p.A133A	p.A371A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			4	1454	-			133					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1113C>A																																																																																					0.458	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	4	1	0	0.000157383	1	0.000164378	7	4				
CHD3	1107	broad.mit.edu	37	17	7796794	7796794	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:7796794A>C	ENST00000330494.7	+	5	850	c.700A>C	c.(700-702)Ata>Cta	p.I234L	CHD3_ENST00000380358.4_Missense_Mutation_p.I293L|CHD3_ENST00000358181.4_Missense_Mutation_p.I234L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	234					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCCACCCCCATAGCACCCTC	0.657																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(877-879)Ata>Cta		chromodomain helicase DNA binding protein 3							17.0	19.0	18.0					17																	7796794		2201	4295	6496	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796794A>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.700A>C	17.37:g.7796794A>C	ENSP00000332628:p.Ile234Leu					CHD3_ENST00000358181.4_Missense_Mutation_p.I234L|CHD3_ENST00000330494.7_Missense_Mutation_p.I234L	p.I293L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	878	+		Prostate(122;0.202)	234					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.877A>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.126|8.126	0.781961|0.781961	0.16189|0.16189	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.89681	.|-2.55;-2.48;-2.49	4.82|4.82	2.56|2.56	0.30785|0.30785	.|.	.|0.265497	.|0.26574	.|N	.|0.023613	T|T	0.74366|0.74366	0.3707|0.3707	N|N	0.12569|0.12569	0.235|0.235	0.27264|0.27264	N|N	0.958547|0.958547	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.60239|0.60239	-0.7302|-0.7302	5|10	.|0.30078	.|T	.|0.28	-5.5046|-5.5046	4.7364|4.7364	0.12989|0.12989	0.6287:0.0:0.2401:0.1313|0.6287:0.0:0.2401:0.1313	.|.	.|234;234;293	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	P|L	108|293;234;234	.|ENSP00000369716:I293L;ENSP00000350907:I234L;ENSP00000332628:I234L	.|ENSP00000332628:I234L	H|I	+|+	2|1	0|0	CHD3|CHD3	7737519|7737519	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	.|.	.|.	0.338000|0.338000	0.23692|0.23692	-0.388000|-0.388000	0.06559|0.06559	CAT|ATA		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	8	0	0	0	1	0	4	8				
AHNAK2	113146	broad.mit.edu	37	14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	rs373634735		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5410-5412)Cgg>Tgg		AHNAK nucleoprotein 2		G	TRP/ARG	1,4013		0,1,2006	146.0	174.0	165.0		5410	-4.1	0.0	14		165	0,8296		0,0,4148	no	missense	AHNAK2	NM_138420.2	101	0,1,6154	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	1804/5796	105416378	1,12309	2007	4148	6155	SO:0001583	missense	113146					nucleus		g.chr14:105416378G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5410C>T	14.37:g.105416378G>A	ENSP00000353114:p.Arg1804Trp					AHNAK2_ENST00000557457.1_Intron	p.R1804W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5529	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1804					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5410C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097490	0.37048	2.49E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54772	0.968	B	0.33042	0.157	T	0.50372	-0.8836	9	0.66056	D	0.02	.	6.3633	0.21441	0.0:0.0:0.544:0.456	.	1804	Q8IVF2	AHNK2_HUMAN	W	1804	ENSP00000353114:R1804W	ENSP00000353114:R1804W	R	-	1	2	AHNAK2	104487423	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	0.456000	0.33151	CGG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	356	0	0	0	1	0	6	356				
NUP98	4928	broad.mit.edu	37	11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	ENST00000324932.7	-	33	5761	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5341-5343)Atg>Gtg		nucleoporin 98kDa							90.0	85.0	87.0					11																	3697451		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697451T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5341A>G	11.37:g.3697451T>C	ENSP00000316032:p.Met1781Val					NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	p.M1781V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5761	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1798					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5341A>G	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.23|10.23	1.292001|1.292001	0.23564|0.23564	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000355260	.|.	.|.	.|.	5.66|5.66	3.34|3.34	0.38264|0.38264	.|.	.|0.552996	.|0.15320	.|N	.|0.268582	T|T	0.30070|0.30070	0.0753|0.0753	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.002;0.002;0.002	.|B;B;B	.|0.08055	.|0.003;0.003;0.003	T|T	0.07233|0.07233	-1.0783|-1.0783	5|9	.|0.33940	.|T	.|0.23	-2.3861|-2.3861	3.5967|3.5967	0.08009|0.08009	0.6027:0.0:0.235:0.1623|0.6027:0.0:0.235:0.1623	.|.	.|1707;1781;1695	.|P52948-2;P52948-5;P52948-6	.|.;.;.	R|V	733|1781;1707	.|.	.|ENSP00000316032:M1781V	H|M	-|-	2|1	0|0	NUP98|NUP98	3654027|3654027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.376000|2.376000	0.44292|0.44292	0.422000|0.422000	0.26005|0.26005	-0.527000|-0.527000	0.04329|0.04329	CAT|ATG		0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	124	0	0	0	1	0	11	124				
TRIM48	79097	broad.mit.edu	37	11	55032585	55032585	+	Missense_Mutation	SNP	G	G	A	rs199871070	byFrequency	TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:55032585G>A	ENST00000417545.2	+	2	340	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACTAACATTCGATTGAAGAAG	0.448																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(253-255)cGa>cAa		tripartite motif containing 48							171.0	159.0	163.0					11																	55032585		2188	4257	6445	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032585G>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.254G>A	11.37:g.55032585G>A	ENSP00000402414:p.Arg85Gln						p.R85Q	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	340	+			69					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.254G>A	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	2.285	-0.363863	0.05103	.	.	ENSG00000150244	ENST00000417545	D	0.84516	-1.86	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.68613	0.3020	N	0.17594	0.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.51442	-0.8705	9	0.28530	T	0.3	.	4.5706	0.12208	0.0:0.0:0.3693:0.6307	.	69	Q8IWZ4	TRI48_HUMAN	Q	85	ENSP00000402414:R85Q	ENSP00000402414:R85Q	R	+	2	0	TRIM48	54789161	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.129000	0.15830	-0.361000	0.08125	0.413000	0.27773	CGA		0.448	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			4	108	0	0	0	1	0	4	108				
TENM1	10178	broad.mit.edu	37	X	123519691	123519691	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:123519691G>C	ENST00000371130.3	-	28	5954	c.5891C>G	c.(5890-5892)aCa>aGa	p.T1964R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.T1971R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1964					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTGCGCCCTGTCCCCAGATG	0.483																																						ENST00000422452.2																			0											c.(5911-5913)aCa>aGa		teneurin transmembrane protein 1							175.0	146.0	156.0					X																	123519691		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519691G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5891C>G	X.37:g.123519691G>C	ENSP00000360171:p.Thr1964Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T1964R	p.T1971R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					29	5975	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5912C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171469	0.78452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86164	-2.08;-2.05	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.941;0.958	D	0.91610	0.5302	10	0.49607	T	0.09	.	18.8683	0.92301	0.0:0.0:1.0:0.0	.	1970;1971;1964	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1964;1971	ENSP00000360171:T1964R;ENSP00000403954:T1971R	ENSP00000360171:T1964R	T	-	2	0	ODZ1	123347372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.403000	0.81681	0.594000	0.82650	ACA		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		62	115	0	0	0	1	0	62	115				
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	69						9	69	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-	rs71180116|rs374076986	byFrequency	TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704														1892	0.377796	0.0741	0.3343	5008	,	,		6929	0.7421		0.327	False		,,,				2504	0.4959					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-57)del		huntingtin				33,28,149		16,0,1,14,0,74						2.6	1.0		dbSNP_119	4	239,82,669		114,3,8,38,3,329	no	codingComplex	HTT	NM_002111.6		130,3,9,52,3,403	A1A1,A1A2,A1R,A2A2,A2R,RR		32.4242,29.0476,31.8333				272,110,818				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076609delCAGCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_57delCAGCAG	4.37:g.3076610_3076615delCAGCAG	ENSP00000347184:p.Gln36_Gln37del						p.QQ36del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_202	+		all_epithelial(65;0.18)	36			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_57delCAGCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	3						3	3	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	ENST00000297591.5	-	7	808_810	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	245	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ctccttcttcttgttgttcctct	0.438																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(733-735)del		KIAA1429																																				SO:0001651	inframe_deletion	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95541443_95541445delTTG	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.733_735delCAA	8.37:g.95541446_95541448delTTG	ENSP00000297591:p.Gln245del					KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		7	808_810	-	Breast(36;3.29e-05)		245			Glu-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	In_Frame_Del	DEL	ENST00000297591.5	37	c.733_735delCAA	CCDS34923.1																																																																																				0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		10	28						10	28	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		23	254						23	254	---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	ENST00000341712.4	+	9	1051_1052	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000395811.5_Frame_Shift_Ins_p.A351fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1051-1053)cccfs		myosin phosphatase Rho interacting protein																																				SO:0001589	frameshift_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17046885_17046886insC	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1058dupC	17.37:g.17046892_17046892dupC	ENSP00000342379:p.Ala351fs					MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.P351fs|MPRIP_ENST00000341712.4_Frame_Shift_Ins_p.P351fs|MPRIP_ENST00000444976.1_Intron	p.P351fs	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			9	1140_1141	+			351			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Ins	INS	ENST00000341712.4	37	c.1051_1052insC	CCDS32578.1																																																																																				0.649	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		18	52						18	52	---	---	---	---
