#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
ZBTB45	84878	broad.mit.edu	37	19	59028510	59028510	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:59028510C>T	ENST00000594051.1	-	2	1011	c.531G>A	c.(529-531)gcG>gcA	p.A177A	ZBTB45_ENST00000600990.1_Silent_p.A177A|ZBTB45_ENST00000354590.3_Silent_p.A177A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	177	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCTGCAAACGCGCGGGCTGGC	0.711											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(529-531)gcG>gcA		zinc finger and BTB domain containing 45							35.0	41.0	39.0					19																	59028510		2202	4295	6497	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028510C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.531G>A	19.37:g.59028510C>T			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Silent_p.A177A|ZBTB45_ENST00000600990.1_Silent_p.A177A	p.A177A			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1011	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	177			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.531G>A	CCDS12984.1																																																																																				0.711	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		22	24	0	0	0	1	0	22	24				
LHX2	9355	broad.mit.edu	37	9	126777629	126777629	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr9:126777629C>T	ENST00000373615.4	+	3	1291	c.552C>T	c.(550-552)gcC>gcT	p.A184A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	184					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCAACCATGCCGACGTGGCAG	0.692																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(550-552)gcC>gcT		LIM homeobox 2							28.0	28.0	28.0					9																	126777629		2203	4300	6503	SO:0001819	synonymous_variant	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126777629C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.552C>T	9.37:g.126777629C>T							p.A184A	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			3	1291	+			184					O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	c.552C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	2.898	-0.228055	0.06022	.	.	ENSG00000106689	ENST00000446480	.	.	.	4.63	-0.496	0.12027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0173	0.24895	0.0:0.4196:0.2873:0.2931	.	.	.	.	X	190	.	.	R	+	1	2	LHX2	125817450	0.999000	0.42202	0.923000	0.36655	0.083000	0.17756	0.619000	0.24388	-0.587000	0.05890	-1.598000	0.00824	CGA		0.692	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			13	22	0	0	0	1	0	13	22				
PTCHD1	139411	broad.mit.edu	37	X	23411556	23411556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chrX:23411556G>A	ENST00000379361.4	+	3	2781	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	641					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGATGAGGTCGATGTAGTGGC	0.403																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1921-1923)Gat>Aat		patched domain containing 1							63.0	62.0	62.0					X																	23411556		2202	4300	6502	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411556G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1921G>A	X.37:g.23411556G>A	ENSP00000368666:p.Asp641Asn						p.D641N	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2781	+			641					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1921G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186492	0.38609	.	.	ENSG00000165186	ENST00000379361	D	0.85171	-1.95	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	N	0.21194	0.64	0.45930	D	0.998764	P	0.42483	0.781	B	0.25140	0.058	T	0.69555	-0.5114	10	0.15952	T	0.53	.	11.8242	0.52256	0.0822:0.0:0.9178:0.0	.	641	Q96NR3	PTHD1_HUMAN	N	641	ENSP00000368666:D641N	ENSP00000368666:D641N	D	+	1	0	PTCHD1	23321477	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	9.471000	0.97696	2.269000	0.75478	0.600000	0.82982	GAT		0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		17	50	0	0	0	1	0	17	50				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	61	0	0	0	1	0	4	61				
GATB	5188	broad.mit.edu	37	4	152682113	152682113	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:152682113A>T	ENST00000515812.1	-	1	38	c.22T>A	c.(22-24)Tgg>Agg	p.W8R	PET112_ENST00000263985.6_Missense_Mutation_p.W8R|PET112_ENST00000512306.1_Missense_Mutation_p.W8R|PET112_ENST00000508611.1_Missense_Mutation_p.W8R																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CGGCAGCCCCAGCGCAGCATG	0.622																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(22-24)Tgg>Agg		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						24.0	28.0	27.0					4																	152682113		2201	4298	6499	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152682113A>T																												ENST00000515812.1:c.22T>A	4.37:g.152682113A>T	ENSP00000426859:p.Trp8Arg					PET112_ENST00000512306.1_Missense_Mutation_p.W8R|PET112_ENST00000508611.1_Missense_Mutation_p.W8R|PET112_ENST00000515812.1_Missense_Mutation_p.W8R	p.W8R	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			1	62	-			8						Missense_Mutation	SNP	ENST00000515812.1	37	c.22T>A		.	.	.	.	.	.	.	.	.	.	A	8.147	0.786568	0.16189	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.42131	1.02;1.01;1.0;0.98	5.45	1.79	0.24919	.	1.461070	0.03848	N	0.271829	T	0.29321	0.0730	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26326	-1.0106	10	0.66056	D	0.02	-19.2034	4.2399	0.10643	0.6307:0.1892:0.1802:0.0	.	8;8	D6RDU9;O75879	.;GATB_HUMAN	R	8	ENSP00000263985:W8R;ENSP00000426859:W8R;ENSP00000420831:W8R;ENSP00000421105:W8R	ENSP00000263985:W8R	W	-	1	0	PET112	152901563	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.417000	0.07088	0.174000	0.19809	0.528000	0.53228	TGG		0.622	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			12	24	0	0	0	1	0	12	24				
ANKLE2	23141	broad.mit.edu	37	12	133324458	133324458	+	Missense_Mutation	SNP	C	C	T	rs376116293		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr12:133324458C>T	ENST00000357997.5	-	5	1279	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R335H|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R397H	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	397					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CACCACGTAACGGATACGCTT	0.527																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1003-1005)cGt>cAt		ankyrin repeat and LEM domain containing 2		C	HIS/ARG	0,4354		0,0,2177	122.0	130.0	128.0		1190	-7.5	0.0	12		128	1,8517		0,1,4258	no	missense	ANKLE2	NM_015114.1	29	0,1,6435	TT,TC,CC		0.0117,0.0,0.0078	benign	397/939	133324458	1,12871	2177	4259	6436	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324458C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1190G>A	12.37:g.133324458C>T	ENSP00000350686:p.Arg397His					ANKLE2_ENST00000337516.5_Missense_Mutation_p.R397H|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R397H	p.R335H			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	4	7688	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	397					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1004G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	7.781	0.709557	0.15239	0.0	1.17E-4	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.55	-7.49	0.01355	Ankyrin repeat-containing domain (2);	0.748873	0.13827	N	0.359961	T	0.23451	0.0567	L	0.38838	1.175	0.09310	N	1	B;B	0.20887	0.038;0.049	B;B	0.17433	0.009;0.018	T	0.15838	-1.0423	10	0.23891	T	0.37	-9.5245	0.9678	0.01409	0.1847:0.259:0.1746:0.3817	.	397;397	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	H	335;397;397;167;43	ENSP00000446268:R335H;ENSP00000350686:R397H;ENSP00000337651:R397H;ENSP00000438515:R167H;ENSP00000445718:R43H	ENSP00000337651:R397H	R	-	2	0	ANKLE2	131834531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.116000	0.10724	-1.646000	0.01513	-0.878000	0.02970	CGT		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			11	27	0	0	0	1	0	11	27				
ABCA9	10350	broad.mit.edu	37	17	67023790	67023790	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:67023790C>T	ENST00000340001.4	-	13	1993	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	ABCA9_ENST00000453985.2_Silent_p.V594V|ABCA9_ENST00000370732.2_Silent_p.V594V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	594	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTTTCTCCACTTCATGTG	0.353																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1780-1782)gtG>gtA		ATP-binding cassette, sub-family A (ABC1), member 9							78.0	72.0	74.0					17																	67023790		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023790C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1782G>A	17.37:g.67023790C>T						ABCA9_ENST00000370732.2_Silent_p.V594V|ABCA9_ENST00000453985.2_Silent_p.V594V	p.V594V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			13	1993	-	Breast(10;1.47e-12)		594			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.1782G>A	CCDS11681.1																																																																																				0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		12	31	0	0	0	1	0	12	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			12	16	0	0	0	1	0	12	16				
LIMCH1	22998	broad.mit.edu	37	4	41687760	41687760	+	Missense_Mutation	SNP	C	C	T	rs147660035		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:41687760C>T	ENST00000313860.7	+	23	2903	c.2849C>T	c.(2848-2850)aCg>aTg	p.T950M	LIMCH1_ENST00000514096.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T950M|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1334M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T873M|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T962M|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T783M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T803M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T783M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T949M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T795M	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	950					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCAAATCCAACGCACAGTTCA	0.443																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2848-2850)aCg>aTg		LIM and calponin homology domains 1		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	122.0	106.0	112.0		2849,2846,2384,2348,2849	2.8	0.0	4	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	81,81,81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	950/1058,949/1057,795/903,783/891,950/1084	41687760	1,13005	2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41687760C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2849C>T	4.37:g.41687760C>T	ENSP00000316891:p.Thr950Met					LIMCH1_ENST00000512820.1_Missense_Mutation_p.T962M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1334M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T803M|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T783M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T950M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T783M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T873M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T949M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T795M	p.T950M	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			23	2903	+			950					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2849C>T	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.628|6.628	0.484361|0.484361	0.12641|0.12641	2.27E-4|2.27E-4	0.0|0.0	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.47869	.|0.83;1.44;1.44;1.44;0.83;1.41;0.84;0.85;0.85;0.88;0.85;0.85	5.51|5.51	2.79|2.79	0.32731|0.32731	.|.	.|1.937000	.|0.01747	.|N	.|0.029713	T|T	0.31327|0.31327	0.0793|0.0793	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;P;B;B;B;B;B	.|0.37122	.|0.024;0.001;0.001;0.109;0.003;0.003;0.583;0.003;0.011;0.006;0.011;0.006	.|B;B;B;B;B;B;B;B;B;B;B;B	.|0.28553	.|0.006;0.003;0.003;0.029;0.005;0.003;0.091;0.003;0.007;0.003;0.007;0.005	T|T	0.32375|0.32375	-0.9909|-0.9909	5|10	.|0.25106	.|T	.|0.35	1.3369|1.3369	10.8336|10.8336	0.46675|0.46675	0.0:0.8268:0.0:0.1732|0.0:0.8268:0.0:0.1732	.|.	.|790;700;783;873;783;795;1334;803;962;949;950;950	.|E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	C|M	784|803;949;950;950;873;962;1334;790;1333;790;783;795;783;302	.|ENSP00000425222:T803M;ENSP00000424825:T949M;ENSP00000424645:T950M;ENSP00000316891:T950M;ENSP00000427045:T873M;ENSP00000424437:T962M;ENSP00000425631:T1334M;ENSP00000421242:T790M;ENSP00000426334:T790M;ENSP00000422864:T783M;ENSP00000379840:T795M;ENSP00000371172:T783M	.|ENSP00000316891:T950M	R|T	+|+	1|2	0|0	LIMCH1|LIMCH1	41382517|41382517	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.000000|0.000000	0.00434|0.00434	-1.098000|-1.098000	0.03346|0.03346	0.877000|0.877000	0.35895|0.35895	-1.300000|-1.300000	0.01332|0.01332	CGC|ACG		0.443	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		14	31	0	0	0	1	0	14	31				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	54	0	0	0	1	0	4	54				
PTPRZ1	5803	broad.mit.edu	37	7	121671570	121671570	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:121671570T>C	ENST00000393386.2	+	15	5534	c.5123T>C	c.(5122-5124)gTt>gCt	p.V1708A	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V848A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1708					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAAGCATGTTGCAGATTTA	0.279																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5122-5124)gTt>gCt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							103.0	98.0	99.0					7																	121671570		2203	4297	6500	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121671570T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5123T>C	7.37:g.121671570T>C	ENSP00000377047:p.Val1708Ala					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V848A	p.V1708A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			15	5534	+			1708					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5123T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.917131	0.92249	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.14640	2.49;2.49	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000006	T	0.36635	0.0974	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.971;0.998;1.0	P;D;D	0.83275	0.721;0.955;0.996	T	0.06267	-1.0836	10	0.87932	D	0	.	16.3469	0.83138	0.0:0.0:0.0:1.0	.	847;848;1708	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	A	1708;848	ENSP00000377047:V1708A;ENSP00000410000:V848A	ENSP00000377047:V1708A	V	+	2	0	PTPRZ1	121458806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.872000	0.69636	2.263000	0.75096	0.528000	0.53228	GTT		0.279	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		13	34	0	0	0	1	0	13	34				
LDB3	11155	broad.mit.edu	37	10	88439245	88439245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr10:88439245C>T	ENST00000361373.4	+	2	236	c.215C>T	c.(214-216)gCc>gTc	p.A72V	LDB3_ENST00000352360.5_Missense_Mutation_p.A72V|LDB3_ENST00000310944.6_Missense_Mutation_p.A72V|LDB3_ENST00000372066.3_Missense_Mutation_p.A72V|LDB3_ENST00000429277.2_Missense_Mutation_p.A72V|LDB3_ENST00000263066.6_Missense_Mutation_p.A72V|LDB3_ENST00000542786.1_Missense_Mutation_p.A72V|LDB3_ENST00000458213.2_Missense_Mutation_p.A72V|LDB3_ENST00000372056.4_Missense_Mutation_p.A72V	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ATCAAGTCTGCCAGCTACAAC	0.617																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(214-216)gCc>gTc		LIM domain binding 3							104.0	86.0	92.0					10																	88439245		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88439245C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.215C>T	10.37:g.88439245C>T	ENSP00000355296:p.Ala72Val					LDB3_ENST00000458213.2_Missense_Mutation_p.A72V|LDB3_ENST00000372056.4_Missense_Mutation_p.A72V|LDB3_ENST00000361373.4_Missense_Mutation_p.A72V|LDB3_ENST00000263066.6_Missense_Mutation_p.A72V|LDB3_ENST00000372066.3_Missense_Mutation_p.A72V|LDB3_ENST00000352360.5_Missense_Mutation_p.A72V|LDB3_ENST00000310944.6_Missense_Mutation_p.A72V|LDB3_ENST00000542786.1_Missense_Mutation_p.A72V	p.A72V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			3	360	+			72			PDZ.			Missense_Mutation	SNP	ENST00000361373.4	37	c.215C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081001	0.94050	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.32372	N	0.006199	T	0.58235	0.2108	M	0.70903	2.155	0.80722	D	1	D;P;P;D;D;D;D	0.89917	0.999;0.914;0.84;0.999;0.997;1.0;1.0	D;P;P;D;D;D;D	0.91635	0.977;0.861;0.776;0.984;0.942;0.996;0.999	T	0.58978	-0.7540	10	0.66056	D	0.02	.	19.7261	0.96164	0.0:1.0:0.0:0.0	.	72;72;72;72;72;72;72	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	V	72	ENSP00000401437:A72V;ENSP00000409148:A72V;ENSP00000263067:A72V;ENSP00000361136:A72V;ENSP00000263066:A72V;ENSP00000361126:A72V;ENSP00000311913:A72V;ENSP00000355296:A72V;ENSP00000438866:A72V	ENSP00000263066:A72V	A	+	2	0	LDB3	88429225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.667000	0.90743	0.561000	0.74099	GCC		0.617	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			3	46	0	0	0	1	0	3	46				
UBBP4	23666	broad.mit.edu	37	17	21730852	21730852	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:21730852G>C	ENST00000578713.1	+	1	158	c.154G>C	c.(154-156)Gat>Cat	p.D52H	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.D52H|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GCAGCGGGAAGATGGCCGCAG	0.522																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(154-156)Gat>Cat																																						SO:0001583	missense	0							g.chr17:21730852G>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.154G>C	17.37:g.21730852G>C	ENSP00000464265:p.Asp52His					UBBP4_ENST00000578713.1_Missense_Mutation_p.D52H|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.D52H							2	551	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.154G>C																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	21	0	0	0	1	0	7	21				
OR2A25	392138	broad.mit.edu	37	7	143771878	143771878	+	Missense_Mutation	SNP	C	C	T	rs374373324		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:143771878C>T	ENST00000408898.2	+	1	604	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A189E(1)|p.A189V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTGCCTGTGCGGATACCCAC	0.433																																						ENST00000408898.2																			2	Substitution - Missense(2)	p.A189E(1)|p.A189V(1)	large_intestine(1)|pancreas(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(565-567)gCg>gTg		olfactory receptor, family 2, subfamily A, member 25		C	VAL/ALA	2,4116		0,2,2057	147.0	150.0	149.0		566	3.0	0.8	7		149	0,8490		0,0,4245	no	missense	OR2A25	NM_001004488.1	64	0,2,6302	TT,TC,CC		0.0,0.0486,0.0159	benign	189/311	143771878	2,12606	2059	4245	6304	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771878C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.566C>T	7.37:g.143771878C>T	ENSP00000386167:p.Ala189Val						p.A189V	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	604	+	Melanoma(164;0.0783)		189					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.566C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375797	0.05034	4.86E-4	0.0	ENSG00000221933	ENST00000408898	T	0.00137	8.68	4.84	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.06427	-1.0827	9	0.12766	T	0.61	-0.7916	5.8907	0.18911	0.1375:0.6467:0.1341:0.0817	.	189	A4D2G3	O2A25_HUMAN	V	189	ENSP00000386167:A189V	ENSP00000386167:A189V	A	+	2	0	OR2A25	143402811	0.000000	0.05858	0.849000	0.33467	0.223000	0.24884	0.041000	0.13927	0.241000	0.21283	-1.119000	0.02030	GCG		0.433	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			26	77	0	0	0	1	0	26	77				
IBSP	3381	broad.mit.edu	37	4	88731862	88731862	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:88731862C>T	ENST00000226284.5	+	6	418	c.351C>T	c.(349-351)gaC>gaT	p.D117D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	117	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATGGAGAGGACGCCACGCCTG	0.423																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(349-351)gaC>gaT		integrin-binding sialoprotein							119.0	120.0	120.0					4																	88731862		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88731862C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.351C>T	4.37:g.88731862C>T							p.D117D	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	6	418	+		Hepatocellular(203;0.114)	117			Asp/Glu-rich (acidic).			Silent	SNP	ENST00000226284.5	37	c.351C>T	CCDS3624.1																																																																																				0.423	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			15	50	0	0	0	1	0	15	50				
RPS6KA5	9252	broad.mit.edu	37	14	91338462	91338462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr14:91338462T>C	ENST00000261991.3	-	17	2538	c.2365A>G	c.(2365-2367)Aat>Gat	p.N789D	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N710D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	789					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCCGGGTTATTGCTGTCGGCA	0.512																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2365-2367)Aat>Gat		ribosomal protein S6 kinase, 90kDa, polypeptide 5							139.0	129.0	133.0					14																	91338462		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338462T>C	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2365A>G	14.37:g.91338462T>C	ENSP00000261991:p.Asn789Asp					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N710D	p.N789D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2538	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	789					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2365A>G	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404780	0.25378	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.67171	-0.24;-0.25	5.25	0.0853	0.14441	Protein kinase-like domain (1);	0.915844	0.09523	N	0.790647	T	0.49915	0.1585	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.26815	-1.0092	10	0.32370	T	0.25	.	6.0389	0.19722	0.0:0.197:0.127:0.676	.	789	O75582	KS6A5_HUMAN	D	789;710	ENSP00000261991:N789D;ENSP00000442803:N710D	ENSP00000261991:N789D	N	-	1	0	RPS6KA5	90408215	0.978000	0.34361	0.003000	0.11579	0.186000	0.23388	1.828000	0.39111	-0.145000	0.11294	0.533000	0.62120	AAT		0.512	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		13	43	0	0	0	1	0	13	43				
SCARB2	950	broad.mit.edu	37	4	77100703	77100703	+	Silent	SNP	G	G	T	rs148029250		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:77100703G>T	ENST00000264896.2	-	4	928	c.579C>A	c.(577-579)ccC>ccA	p.P193P	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	193					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GAGAGATATCGGGCCTGAAAA	0.443																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(577-579)ccC>ccA		scavenger receptor class B, member 2							129.0	129.0	129.0					4																	77100703		2203	4300	6503	SO:0001819	synonymous_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77100703G>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.579C>A	4.37:g.77100703G>T						SCARB2_ENST00000452464.2_Intron	p.P193P	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		4	928	-			193					B4DKD8|E7EM68|Q53Y63	Silent	SNP	ENST00000264896.2	37	c.579C>A	CCDS3577.1																																																																																				0.443	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		3	65	1	0	6.4e-05	1	6.4e-05	3	65				
TMEM95	339168	broad.mit.edu	37	17	7258606	7258606	+	Missense_Mutation	SNP	C	C	T	rs150578277		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:7258606C>T	ENST00000576060.1	+	1	110	c.83C>T	c.(82-84)tCa>tTa	p.S28L	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.S28L|TMEM95_ENST00000389982.4_Missense_Mutation_p.S28L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	28						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CACGACTTGTCAGGCCGCCTG	0.637																																						ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(82-84)tCa>tTa		transmembrane protein 95							31.0	33.0	32.0					17																	7258606		2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7258606C>T		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.83C>T	17.37:g.7258606C>T	ENSP00000460828:p.Ser28Leu					TMEM95_ENST00000330767.4_Missense_Mutation_p.S28L|TMEM95_ENST00000576060.1_Missense_Mutation_p.S28L	p.S28L			Q3KNT9	TMM95_HUMAN			1	165	+		Prostate(122;0.173)	28					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.83C>T		.	.	.	.	.	.	.	.	.	.	C	12.45	1.940294	0.34283	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	2.74	0.32292	.	0.793543	0.10359	N	0.684230	T	0.29190	0.0726	L	0.27053	0.805	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.25537	-1.0129	9	0.72032	D	0.01	.	6.2791	0.20997	0.0:0.7119:0.1873:0.1008	.	28;28;28	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	L	28	.	ENSP00000331466:S28L	S	+	2	0	TMEM95	7199330	0.002000	0.14202	0.022000	0.16811	0.975000	0.68041	1.493000	0.35605	0.609000	0.30018	0.561000	0.74099	TCA		0.637	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		12	23	0	0	0	1	0	12	23				
THEG	51298	broad.mit.edu	37	19	375793	375793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:375793G>A	ENST00000342640.4	-	1	220	c.178C>T	c.(178-180)Cca>Tca	p.P60S	THEG_ENST00000346878.2_Missense_Mutation_p.P60S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	60					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCTTCTGGGTCTTCTGGT	0.642																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(178-180)Cca>Tca		theg spermatid protein							61.0	70.0	67.0					19																	375793		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375793G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.178C>T	19.37:g.375793G>A	ENSP00000340088:p.Pro60Ser					THEG_ENST00000346878.2_Missense_Mutation_p.P60S	p.P60S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	220	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	60					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.178C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	4.420	0.077724	0.08485	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19669	2.24;2.13	3.34	-0.328	0.12690	.	0.675714	0.13028	N	0.419527	T	0.11879	0.0289	L	0.36672	1.1	0.09310	N	1	B;B	0.32829	0.386;0.386	B;B	0.28139	0.086;0.086	T	0.20538	-1.0272	10	0.51188	T	0.08	-21.7178	1.838	0.03143	0.1097:0.1749:0.3585:0.3569	.	60;60	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	S	60	ENSP00000340088:P60S;ENSP00000264820:P60S	ENSP00000340088:P60S	P	-	1	0	THEG	326793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.186000	0.16978	0.046000	0.15833	0.561000	0.74099	CCA		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			20	36	0	0	0	1	0	20	36				
CIC	23152	broad.mit.edu	37	19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:42791721C>T	ENST00000575354.2	+	5	647	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	CIC_ENST00000572681.2_Missense_Mutation_p.P1112S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3334-3336)Ccc>Tcc		capicua transcriptional repressor							64.0	68.0	67.0					19																	42791721		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791721C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.607C>T	19.37:g.42791721C>T	ENSP00000458663:p.Pro203Ser					CIC_ENST00000160740.3_Missense_Mutation_p.P203S|CIC_ENST00000575354.2_Missense_Mutation_p.P203S	p.P1112S			Q96RK0	CIC_HUMAN			6	3402	+		Prostate(69;0.00682)	203			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3334C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476088	0.63737	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.2603	14.5138	0.67807	0.0:1.0:0.0:0.0	.	203	Q96RK0	CIC_HUMAN	S	203	.	ENSP00000160740:P203S	P	+	1	0	CIC	47483561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.284000	0.76573	0.555000	0.69702	CCC		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	15	0	0	0	1	0	17	15				
USP24	23358	broad.mit.edu	37	1	55569612	55569612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:55569612delA	ENST00000294383.6	-	42	4961	c.4962delT	c.(4960-4962)attfs	p.I1656fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.I1496fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1656					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTTTATAATAATTTGAAGAT	0.383																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4960-4962)atfs		ubiquitin specific peptidase 24							56.0	54.0	55.0					1																	55569612		1834	4085	5919	SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55569612delA	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4962delT	1.37:g.55569612delA	ENSP00000294383:p.Ile1656fs					USP24_ENST00000407756.1_Frame_Shift_Del_p.I1496fs	p.I1656fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			42	4961	-			1656					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.4962delT	CCDS44154.2																																																																																				0.383	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			2	4						2	4	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78430388	78430389	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:78430388_78430389insAG	ENST00000370768.2	-	10	860_861	c.779_780insCT	c.(778-780)ggtfs	p.G260fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.G260fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.G281fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	260					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTCTCTGAAACCGCCTTGATC	0.347			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(778-780)gttfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430388_78430389insAG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.779_780insCT	1.37:g.78430388_78430389insAG	ENSP00000359804:p.Gly260fs					FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V281fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V260fs	p.V260fs			Q96AE4	FUBP1_HUMAN			10	866_867	-			260					Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.779_780insCT	CCDS683.1																																																																																				0.347	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		31	62						31	62	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363978	204363979	+	RNA	INS	-	-	AA			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:204363978_204363979insAA	ENST00000443515.1	+	0	146																											gatttgtttttcaaaaaaaaaa	0.302																																						ENST00000443515.1																			0																																																			0							g.chr1:204363978_204363979insAA																													1.37:g.204363978_204363979insAA														0	146	+									RNA	INS	ENST00000443515.1	37																																																																																						0.302	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			2	4						2	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		2	4						2	4	---	---	---	---
MAST3	23031	broad.mit.edu	37	19	18234405	18234405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:18234405delG	ENST00000262811.6	+	7	486	c.486delG	c.(484-486)acgfs	p.T162fs	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	162							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGTGCAACGGGGACCTTCG	0.607																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(484-486)acfs		microtubule associated serine/threonine kinase 3							41.0	42.0	42.0					19																	18234405		1940	4122	6062	SO:0001589	frameshift_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18234405delG	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.486delG	19.37:g.18234405delG	ENSP00000262811:p.Thr162fs						p.T162fs	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			7	486	+			162					Q7LDZ8|Q9UPI0	Frame_Shift_Del	DEL	ENST00000262811.6	37	c.486delG	CCDS46014.1																																																																																				0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		2	4						2	4	---	---	---	---
