#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
GATA4	2626	broad.mit.edu	37	8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	ENST00000335135.4	+	3	1303	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	249					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(745-747)Ggc>Agc		GATA binding protein 4							69.0	60.0	63.0					8																	11606556		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606556G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.745G>A	8.37:g.11606556G>A	ENSP00000334458:p.Gly249Ser					GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	p.G249S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1303	+	all_epithelial(15;0.0839)		249					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.745G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869422	0.97049	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31	5.61	5.61	0.85477	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.72338	0.897;0.977	D	0.97915	1.0311	10	0.87932	D	0	-10.1498	18.9896	0.92786	0.0:0.0:1.0:0.0	.	250;249	B7ZKZ4;P43694	.;GATA4_HUMAN	S	43;43;249;248;250	ENSP00000435043:G43S;ENSP00000435347:G43S;ENSP00000334458:G249S;ENSP00000435712:G250S	ENSP00000259090:G248S	G	+	1	0	GATA4	11643965	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.515000	0.98015	2.793000	0.96121	0.655000	0.94253	GGC		0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		11	69	0	0	0	1	0	11	69				
GATA2	2624	broad.mit.edu	37	3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	ENST00000341105.2	-	4	1235	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000487848.1_Missense_Mutation_p.A302T|GATA2_ENST00000430265.2_Missense_Mutation_p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	302					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A302S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - Missense(1)	p.A302S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(904-906)Gcc>Acc		GATA binding protein 2							50.0	49.0	49.0					3																	128202816		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128202816C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.904G>A	3.37:g.128202816C>T	ENSP00000345681:p.Ala302Thr					GATA2_ENST00000487848.1_Missense_Mutation_p.A302T|GATA2_ENST00000430265.2_Missense_Mutation_p.A302T	p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	1235	-			302					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.904G>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430356	0.96150	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99413	-5.86;-5.86;-5.86	4.83	4.83	0.62350	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.052578	0.85682	D	0.000000	D	0.96623	0.8898	N	0.02802	-0.49	0.58432	D	0.999997	P;B	0.42296	0.775;0.013	B;B	0.38156	0.266;0.063	D	0.97875	1.0288	10	0.72032	D	0.01	-7.5719	17.9063	0.88919	0.0:1.0:0.0:0.0	.	302;302	P23769-2;P23769	.;GATA2_HUMAN	T	302	ENSP00000345681:A302T;ENSP00000400259:A302T;ENSP00000417074:A302T	ENSP00000345681:A302T	A	-	1	0	GATA2	129685506	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.174000	0.65015	2.205000	0.71048	0.491000	0.48974	GCC		0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		5	88	0	0	0	1	0	5	88				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	15	0	0	0	1	0	7	15				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	184	1	0	8.12818e-05	1	8.12818e-05	6	184				
SMC4	10051	broad.mit.edu	37	3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	ENST00000357388.3	+	5	972	c.521A>C	c.(520-522)gAt>gCt	p.D174A	SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|RP11-432B6.3_ENST00000483754.1_Intron|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	174					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGGGGATGATTATGAAGTC	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(520-522)gAt>gCt		structural maintenance of chromosomes 4							60.0	61.0	60.0					3																	160122126		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160122126A>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.521A>C	3.37:g.160122126A>C	ENSP00000349961:p.Asp174Ala					SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR	p.D174A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	972	+			174					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.521A>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582372	0.86748	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;0.92;-0.18;-0.18	6.16	5.0	0.66597	RecF/RecN/SMC (1);	0.045412	0.85682	D	0.000000	T	0.62829	0.2460	L	0.49455	1.56	0.80722	D	1	P;P;P	0.46859	0.659;0.885;0.683	B;P;B	0.48770	0.266;0.589;0.207	T	0.61888	-0.6970	9	.	.	.	-31.0813	12.6615	0.56815	0.9349:0.0:0.0651:0.0	.	174;149;174	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	A	174;174;174;49;49;149;174;174;174;102;174	ENSP00000349961:D174A;ENSP00000353225:D174A;ENSP00000417999:D49A;ENSP00000419360:D49A;ENSP00000417964:D149A;ENSP00000420121:D174A;ENSP00000420734:D174A;ENSP00000420817:D174A;ENSP00000417612:D102A;ENSP00000341382:D174A	.	D	+	2	0	SMC4	161604820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.367000	0.80283	0.528000	0.53228	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			6	17	0	0	0	1	0	6	17				
SLCO1B3	28234	broad.mit.edu	37	12	21028269	21028269	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	ENST00000381545.3	+	9	1047	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_ENST00000553473.1_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.F276F|LST3_ENST00000540229.1_Silent_p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	276					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCATACCATTTTTTTTCTTGC	0.358																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttT>ttC		solute carrier organic anion transporter family, member 1B3							133.0	130.0	131.0					12																	21028269		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028269T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.828T>C	12.37:g.21028269T>C						LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F276F|LST3_ENST00000540229.1_Silent_p.F276F|SLCO1B3_ENST00000261196.2_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron	p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1047	+	Esophageal squamous(101;0.149)		276					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.828T>C	CCDS8684.1																																																																																				0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		32	65	0	0	0	1	0	32	65				
MUM1L1	139221	broad.mit.edu	37	X	105449981	105449981	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	ENST00000357175.2	+	4	1205	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_ENST00000337685.2_Missense_Mutation_p.S186P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	186						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAACAAAGTCATTACAAAA	0.383																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(556-558)Tca>Cca		melanoma associated antigen (mutated) 1-like 1							66.0	56.0	59.0					X																	105449981		1885	4098	5983	SO:0001583	missense	139221							g.chrX:105449981T>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.556T>C	X.37:g.105449981T>C	ENSP00000349699:p.Ser186Pro					MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S186P	p.S186P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	1341	+			186					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.556T>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596014	0.28445	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25912	1.77;1.77;1.77	4.96	-7.45	0.01374	.	1.275960	0.05669	N	0.588312	T	0.20820	0.0501	L	0.52126	1.63	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26950	-1.0088	10	0.38643	T	0.18	-28.553	9.872	0.41180	0.0:0.5749:0.2512:0.1739	.	186	Q5H9M0	MUML1_HUMAN	P	186	ENSP00000349699:S186P;ENSP00000338641:S186P;ENSP00000361632:S186P	ENSP00000338641:S186P	S	+	1	0	MUM1L1	105336637	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.694000	0.05115	-1.624000	0.01556	-0.323000	0.08544	TCA		0.383	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		11	13	0	0	0	1	0	11	13				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					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)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	66	0	0	0	1	0	4	66				
MIER2	54531	broad.mit.edu	37	19	308922	308922	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:308922G>A	ENST00000264819.4	-	11	998	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	330	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GACCGTGTGCGCACCTGCGGG	0.667																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(988-990)Cgc>Tgc		mesoderm induction early response 1, family member 2							62.0	57.0	59.0					19																	308922		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308922G>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.988C>T	19.37:g.308922G>A	ENSP00000264819:p.Arg330Cys						p.R330C	NM_017550.1	NP_060020.1	Q8N344	MIER2_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)	11	998	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	330			SANT.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.988C>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541265	0.65085	.	.	ENSG00000105556	ENST00000264819	T	0.30182	1.54	4.13	4.13	0.48395	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.288637	0.24846	N	0.035133	T	0.56645	0.1999	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64368	-0.6424	10	0.87932	D	0	-22.6267	15.3972	0.74805	0.0:0.0:1.0:0.0	.	330	Q8N344	MIER2_HUMAN	C	330	ENSP00000264819:R330C	ENSP00000264819:R330C	R	-	1	0	MIER2	259922	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.049000	0.76613	1.830000	0.53286	0.457000	0.33378	CGC		0.667	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		4	98	0	0	0	1	0	4	98				
ANO2	57101	broad.mit.edu	37	12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	ENST00000356134.5	-	22	2239	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000327087.8_Missense_Mutation_p.P722L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	727					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2164-2166)cCa>cTa		anoctamin 2							209.0	212.0	211.0					12																	5708718		2173	4276	6449	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708718G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2168C>T	12.37:g.5708718G>A	ENSP00000348453:p.Pro723Leu					ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000356134.5_Missense_Mutation_p.P723L	p.P722L			Q9NQ90	ANO2_HUMAN			21	2236	-			727					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2165C>T		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612875	0.28712	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.58652	0.32;0.32;0.32	5.55	5.55	0.83447	.	0.059176	0.64402	D	0.000002	T	0.31295	0.0792	N	0.02379	-0.575	0.58432	D	0.999995	B	0.10296	0.003	B	0.17979	0.02	T	0.31251	-0.9950	10	0.06494	T	0.89	.	16.9868	0.86341	0.0:0.0:1.0:0.0	.	722	Q9NQ90-3	.	L	722;723;723;727	ENSP00000314048:P722L;ENSP00000348453:P723L;ENSP00000440981:P723L	ENSP00000314048:P722L	P	-	2	0	ANO2	5578979	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.963000	0.70372	2.611000	0.88343	0.563000	0.77884	CCA		0.473	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		21	115	0	0	0	1	0	21	115				
PRR5	55615	broad.mit.edu	37	22	45132730	45132730	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:45132730C>T	ENST00000336985.6	+	8	1047	c.770C>T	c.(769-771)aCg>aTg	p.T257M	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.T280M|PRR5_ENST00000006251.7_Missense_Mutation_p.T248M	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	257					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCTACAACACGCCTCTGCTG	0.692																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(838-840)aCg>aTg		proline rich 5 (renal)							39.0	47.0	45.0					22																	45132730		2201	4296	6497	SO:0001583	missense	55615							g.chr22:45132730C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.770C>T	22.37:g.45132730C>T	ENSP00000337464:p.Thr257Met					ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Missense_Mutation_p.T257M	p.T280M	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1448	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.839C>T	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.02|17.02	3.281172|3.281172	0.59758|0.59758	.|.	.|.	ENSG00000186654|ENSG00000186654	ENST00000455389|ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	.|T;T;T;T	.|0.31247	.|1.51;1.51;1.5;1.51	5.41|5.41	3.23|3.23	0.37069|0.37069	.|.	.|.	.|.	.|.	.|.	T|T	0.18299|0.18299	0.0439|0.0439	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;P;B;P;P	.|0.48350	.|0.297;0.909;0.421;0.798;0.798	.|B;B;B;B;B	.|0.35312	.|0.015;0.2;0.034;0.132;0.132	T|T	0.03175|0.03175	-1.1064|-1.1064	5|9	.|0.51188	.|T	.|0.08	.|.	6.3086|6.3086	0.21153|0.21153	0.3813:0.5212:0.0:0.0975|0.3813:0.5212:0.0:0.0975	.|.	.|221;280;156;257;257	.|B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.|.;.;.;PRR5_HUMAN;.	C|M	217|248;248;221;280;257	.|ENSP00000400925:T248M;ENSP00000006251:T248M;ENSP00000384848:T280M;ENSP00000337464:T257M	.|ENSP00000006251:T248M	R|T	+|+	1|2	0|0	PRR5|PRR5	43511394|43511394	0.879000|0.879000	0.30193|0.30193	0.998000|0.998000	0.56505|0.56505	0.893000|0.893000	0.52053|0.52053	2.164000|2.164000	0.42387|0.42387	1.290000|1.290000	0.44636|0.44636	0.313000|0.313000	0.20887|0.20887	CGC|ACG		0.692	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		28	112	0	0	0	1	0	28	112				
ZNF117	51351	broad.mit.edu	37	7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	ENST00000282869.6	-	3	1307	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	8					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(22-24)gCt>gTt		zinc finger protein 117							226.0	230.0	229.0					7																	64441776		2203	4300	6503	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64441776G>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.23C>T	7.37:g.64441776G>A	ENSP00000282869:p.Ala8Val						p.A8V	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			3	1307	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	8					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.23C>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246140	0.22796	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.10382	2.88	0.713	-1.29	0.09288	.	.	.	.	.	T	0.10380	0.0254	L	0.59436	1.845	0.09310	N	1	P	0.41313	0.745	B	0.39258	0.295	T	0.16041	-1.0416	9	0.56958	D	0.05	.	4.7789	0.13192	0.0:0.0:0.3413:0.6587	.	8	Q03924	ZN117_HUMAN	V	8	ENSP00000282869:A8V	ENSP00000282869:A8V	A	-	2	0	ZNF117	64079211	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.065000	0.14466	-0.425000	0.07371	0.313000	0.20887	GCT		0.423	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		18	106	0	0	0	1	0	18	106				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	7	23	0	0	0	1	0	7	23				
EMX2	2018	broad.mit.edu	37	10	119303012	119303012	+	Silent	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr10:119303012G>C	ENST00000553456.3	+	1	1058	c.234G>C	c.(232-234)ccG>ccC	p.P78P	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	78					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCTCGCACCCGCCCAACCCCG	0.741																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(232-234)ccG>ccC		empty spiracles homeobox 2							12.0	15.0	14.0					10																	119303012		2175	4228	6403	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303012G>C	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.234G>C	10.37:g.119303012G>C						EMX2_ENST00000442245.4_Silent_p.P78P|EMX2OS_ENST00000551288.1_RNA	p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1058	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	78					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.234G>C	CCDS7601.1																																																																																				0.741	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		10	25	0	0	0	1	0	10	25				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1390-1392)cAt>cGt		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1940	+			464					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			5	76	0	0	0	1	0	5	76				
PTPRB	5787	broad.mit.edu	37	12	70949900	70949900	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	ENST00000261266.5	-	17	4118	c.4089C>T	c.(4087-4089)tgC>tgT	p.C1363C	PTPRB_ENST00000451516.2_Silent_p.C1273C|PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000334414.6_Silent_p.C1581C|PTPRB_ENST00000550857.1_Silent_p.C1273C|PTPRB_ENST00000538708.1_Silent_p.C1273C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1363	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGGCCGGCAATGCAGGT	0.458																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4741-4743)tgC>tgT		protein tyrosine phosphatase, receptor type, B							40.0	37.0	38.0					12																	70949900		1837	4090	5927	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949900G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4089C>T	12.37:g.70949900G>A						PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000538708.1_Silent_p.C1273C|PTPRB_ENST00000550857.1_Silent_p.C1273C|PTPRB_ENST00000261266.5_Silent_p.C1363C|PTPRB_ENST00000451516.2_Silent_p.C1273C	p.C1581C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	4787	-	Renal(347;0.236)		1363					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4743C>T	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	25	0	0	0	1	0	8	25				
FLYWCH1	84256	broad.mit.edu	37	16	2983273	2983273	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	ENST00000253928.9	+	5	1344	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_ENST00000399667.2_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	313						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(937-939)cgG>cgA		FLYWCH-type zinc finger 1							20.0	24.0	23.0					16																	2983273		2098	4196	6294	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983273G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.939G>A	16.37:g.2983273G>A						FLYWCH1_ENST00000253928.9_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R	p.R313R			Q4VC44	FWCH1_HUMAN			5	1302	+			313					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.939G>A																																																																																					0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		6	21	0	0	0	1	0	6	21				
BTK	695	broad.mit.edu	37	X	100615678	100615678	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	ENST00000308731.7	-	8	817	c.654G>A	c.(652-654)aaG>aaA	p.K218K	BTK_ENST00000372880.1_Silent_p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	218	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGGCCACAACCTTTTTCAGCT	0.448									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	GRCh37	CX012301	BTK	X		c.(652-654)aaG>aaA		Bruton agammaglobulinemia tyrosine kinase							149.0	130.0	136.0					X																	100615678		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615678C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.654G>A	X.37:g.100615678C>T						BTK_ENST00000372880.1_Silent_p.K218K	p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			8	817	-			218			SH3.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.654G>A	CCDS14482.1																																																																																				0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		17	102	0	0	0	1	0	17	102				
IFT52	51098	broad.mit.edu	37	20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	ENST00000373030.3	+	11	1064	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	312					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(934-936)Cag>Gag		intraflagellar transport 52 homolog (Chlamydomonas)							104.0	93.0	97.0					20																	42264576		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42264576C>G	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.934C>G	20.37:g.42264576C>G	ENSP00000362121:p.Gln312Glu					IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1064	+		Myeloproliferative disorder(115;0.00452)	312					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.934C>G	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321523	0.23994	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.63	4.67	0.58626	.	0.203724	0.50627	N	0.000109	T	0.41026	0.1141	N	0.17723	0.515	0.54753	D	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.24404	-1.0161	9	0.11182	T	0.66	-12.6939	15.4598	0.75346	0.0:0.8554:0.1446:0.0	.	312	Q9Y366	IFT52_HUMAN	E	312	.	ENSP00000362121:Q312E	Q	+	1	0	IFT52	41697990	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.908000	0.56355	1.486000	0.48398	0.655000	0.94253	CAG		0.488	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		9	53	0	0	0	1	0	9	53				
AKAP2	11217	broad.mit.edu	37	9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	ENST00000259318.7	+	3	2642	c.2435A>G	c.(2434-2436)tAt>tGt	p.Y812C	AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Y1043C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000482335.1_Intron	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	812										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATGGAAGACTATGAGACACAC	0.537																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3127-3129)tAt>tGt									97.0	96.0	96.0					9																	112918731		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112918731A>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2435A>G	9.37:g.112918731A>G	ENSP00000259318:p.Tyr812Cys					AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000259318.7_Missense_Mutation_p.Y812C|AKAP2_ENST00000482335.1_Intron	p.Y1043C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			9	3308	+			812					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3128A>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801058	0.70567	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.48	5.48	0.80851	.	0.061929	0.64402	D	0.000003	T	0.49253	0.1546	L	0.47716	1.5	0.50632	D	0.999886	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.991;0.999;0.991;0.994;0.994	T	0.47548	-0.9109	10	0.59425	D	0.04	-14.6639	15.0551	0.71908	1.0:0.0:0.0:0.0	.	812;901;902;1043;1043	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	C	1043;1043;1043;1043;901;901;812	ENSP00000363654:Y1043C;ENSP00000305861:Y1043C;ENSP00000451476:Y1043C;ENSP00000421522:Y1043C;ENSP00000404782:Y901C;ENSP00000363649:Y901C;ENSP00000259318:Y812C	ENSP00000259318:Y812C	Y	+	2	0	PALM2-AKAP2;AKAP2	111958552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.276000	0.65580	2.205000	0.71048	0.533000	0.62120	TAT		0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		13	70	0	0	0	1	0	13	70				
KRTAP10-7	386675	broad.mit.edu	37	21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	ENST00000380102.2	+	1	758	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	245	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(733-735)Gtg>Ttg		keratin associated protein 10-7							152.0	149.0	150.0					21																	46021254		2203	4300	6503	SO:0001583	missense	386675					keratin filament		g.chr21:46021254G>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.733G>T	21.37:g.46021254G>T	ENSP00000369445:p.Val245Leu					TSPEAR_ENST00000323084.4_Intron	p.V245L	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	758	+			245			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.733G>T		.	.	.	.	.	.	.	.	.	.	g	3.359	-0.130825	0.06753	.	.	ENSG00000205441	ENST00000380102	T	0.01414	4.92	3.48	-5.36	0.02689	.	.	.	.	.	T	0.02119	0.0066	M	0.82630	2.6	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39820	-0.9595	9	0.28530	T	0.3	.	5.3661	0.16115	0.5869:0.1549:0.2582:0.0	.	240	P60409-2	.	L	245	ENSP00000369445:V245L	ENSP00000369445:V245L	V	+	1	0	KRTAP10-7	44845682	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.219000	0.02973	-0.701000	0.05063	0.398000	0.26397	GTG		0.652	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		43	211	1	0	4.06502e-11	1	4.33602e-11	43	211				
KRT15	3866	broad.mit.edu	37	17	39673186	39673186	+	Silent	SNP	G	G	A	rs577866815	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	ENST00000254043.3	-	3	4197	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393981.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	204	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18983	0.0		0.0	False		,,,				2504	0.001					ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(610-612)ggC>ggT		keratin 15							75.0	76.0	75.0					17																	39673186		2203	4300	6503	SO:0001819	synonymous_variant	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673186G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.612C>T	17.37:g.39673186G>A						KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G|KRT15_ENST00000393981.3_Silent_p.G39G	p.G204G	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4197	-		Breast(137;0.000286)	204			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	c.612C>T	CCDS11398.1																																																																																				0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		20	109	0	0	0	1	0	20	109				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	83	0	0	0	1	0	5	83				
STT3B	201595	broad.mit.edu	37	3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	ENST00000295770.2	+	4	961	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	251					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(751-753)tGc>tAc		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							135.0	133.0	133.0					3																	31638330		2202	4296	6498	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31638330G>A	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.752G>A	3.37:g.31638330G>A	ENSP00000295770:p.Cys251Tyr					STT3B_ENST00000453168.1_3'UTR	p.C251Y	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			4	961	+			251					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.752G>A	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668638	0.47677	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.62	5.62	0.85841	.	0.049710	0.85682	D	0.000000	T	0.61236	0.2331	L	0.49126	1.545	0.54753	D	0.999984	B	0.24483	0.104	B	0.27380	0.079	T	0.58555	-0.7616	9	0.51188	T	0.08	-4.037	18.4188	0.90582	0.0:0.0:1.0:0.0	.	251	Q8TCJ2	STT3B_HUMAN	Y	251	.	ENSP00000295770:C251Y	C	+	2	0	STT3B	31613334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.133000	0.94460	2.633000	0.89246	0.655000	0.94253	TGC		0.318	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		5	62	0	0	0	1	0	5	62				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>A		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.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	42	0	0	0	1	0	19	42				
OR11H12	440153	broad.mit.edu	37	14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	ENST00000550708.1	+	1	203	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(130-132)tCa>tTa		olfactory receptor, family 11, subfamily H, member 12							59.0	62.0	61.0					14																	19377724		2198	4294	6492	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377724C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.131C>T	14.37:g.19377724C>T	ENSP00000449002:p.Ser44Leu						p.S44L	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	203	+	all_cancers(95;0.00108)		44						Missense_Mutation	SNP	ENST00000550708.1	37	c.131C>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.769200	0.00645	.	.	ENSG00000257115	ENST00000550708	T	0.00397	7.57	.	.	.	.	0.573954	0.12919	U	0.428325	T	0.00109	0.0003	N	0.04994	-0.135	0.24539	N	0.994079	B	0.12013	0.005	B	0.11329	0.006	T	0.06991	-1.0796	8	0.08179	T	0.78	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	44	B2RN74	O11HC_HUMAN	L	44	ENSP00000449002:S44L	ENSP00000449002:S44L	S	+	2	0	CR383656.1	18447724	0.000000	0.05858	0.902000	0.35471	0.108000	0.19459	-0.843000	0.04350	0.413000	0.25759	0.064000	0.15345	TCA		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		10	110	0	0	0	1	0	10	110				
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2230-2232)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							178.0	177.0	177.0					3																	10107141		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107141G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2232G>A	3.37:g.10107141G>A						FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q	p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2325	+			744					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2232G>A	CCDS33696.1																																																																																				0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	114	0	0	0	1	0	4	114				
CNGB3	54714	broad.mit.edu	37	8	87641261	87641261	+	Missense_Mutation	SNP	G	G	A	rs544695310		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:87641261G>A	ENST00000320005.5	-	12	1413	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	456					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGCAGGCGCGGAAGTAGTTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18777	0.001		0.0	False		,,,				2504	0.0					ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1366-1368)Cgc>Tgc		cyclic nucleotide gated channel beta 3							240.0	226.0	230.0					8																	87641261		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87641261G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1366C>T	8.37:g.87641261G>A	ENSP00000316605:p.Arg456Cys						p.R456C	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			12	1413	-			456					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1366C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909155	0.72868	.	.	ENSG00000170289	ENST00000320005	D	0.97138	-4.26	5.92	5.92	0.95590	Cyclic nucleotide-binding-like (1);	0.132851	0.51477	D	0.000098	D	0.98754	0.9581	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.99267	1.0892	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	456;456	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	456	ENSP00000316605:R456C	ENSP00000316605:R456C	R	-	1	0	CNGB3	87710377	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.647000	0.67923	2.811000	0.96726	0.555000	0.69702	CGC		0.438	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		4	204	0	0	0	1	0	4	204				
RNF126	55658	broad.mit.edu	37	19	651708	651708	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	ENST00000292363.5	-	4	501	c.346C>G	c.(346-348)Cat>Gat	p.H116D		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CGGGACGGATGGTCTCTCTCC	0.721																																						ENST00000292363.5																			0				lung(1)	1						c.(346-348)Cat>Gat		ring finger protein 126							23.0	21.0	22.0					19																	651708		2197	4296	6493	SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:651708G>C	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.346C>G	19.37:g.651708G>C	ENSP00000292363:p.His116Asp						p.H116D	NM_194460.2	NP_919442.1	Q9BV68	RN126_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)	4	501	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	116						Missense_Mutation	SNP	ENST00000292363.5	37	c.346C>G	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510326	0.27036	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.14391	2.51	4.42	4.42	0.53409	.	0.326241	0.29956	N	0.010766	T	0.15219	0.0367	M	0.64997	1.995	0.40033	D	0.97555	B	0.23249	0.082	B	0.18871	0.023	T	0.06023	-1.0850	10	0.14252	T	0.57	.	14.5408	0.67995	0.0:0.0:1.0:0.0	.	116	Q9BV68-2	.	D	116	ENSP00000292363:H116D	ENSP00000292363:H116D	H	-	1	0	RNF126	602708	1.000000	0.71417	0.151000	0.22473	0.191000	0.23601	5.540000	0.67205	2.158000	0.67659	0.462000	0.41574	CAT		0.721	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		14	22	0	0	0	1	0	14	22				
ZNF430	80264	broad.mit.edu	37	19	21216300	21216300	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	ENST00000261560.5	+	3	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_ENST00000595401.1_Silent_p.S45S|ZNF430_ENST00000599548.1_Silent_p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAATTTTCTCTGGAGGAGT	0.438																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(133-135)tcT>tcC		zinc finger protein 430							113.0	118.0	116.0					19																	21216300		2203	4300	6503	SO:0001819	synonymous_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21216300T>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.135T>C	19.37:g.21216300T>C						ZNF430_ENST00000599548.1_Silent_p.S45S|ZNF430_ENST00000595401.1_Silent_p.S45S	p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			3	316	+			45			KRAB.		Q86V70	Silent	SNP	ENST00000261560.5	37	c.135T>C	CCDS32978.1																																																																																				0.438	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		21	105	0	0	0	1	0	21	105				
PEX5	5830	broad.mit.edu	37	12	7362771	7362771	+	Silent	SNP	C	C	T	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	ENST00000455147.2	+	17	2452	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	PEX5_ENST00000266563.5_Silent_p.D587D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000420616.2_Silent_p.D624D|PEX5_ENST00000434354.2_Silent_p.D639D	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	624					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1759-1761)gaC>gaT		peroxisomal biogenesis factor 5		C	,,,,	4,4402	8.1+/-20.4	0,4,2199	84.0	75.0	78.0		1848,1917,1761,1872,1872	-0.2	1.0	12	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PEX5	NM_000319.4,NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1	,,,,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,,,,	616/632,639/655,587/603,624/640,624/640	7362771	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362771C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1872C>T	12.37:g.7362771C>T						PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000420616.2_Silent_p.D624D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000455147.2_Silent_p.D624D|PEX5_ENST00000434354.2_Silent_p.D639D	p.D587D	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			15	1944	+			624					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1761C>T	CCDS44823.1																																																																																				0.627	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		15	104	0	0	0	1	0	15	104				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	3	1	0	8.24728e-16	1	8.94621e-16	28	3				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	114	0	0	0	1	0	4	114				
PRDM11	56981	broad.mit.edu	37	11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	ENST00000530656.1	+	1	10	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	PRDM11_ENST00000263765.4_Missense_Mutation_p.M4V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	4							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(10-12)Atg>Gtg		PR domain containing 11							164.0	131.0	142.0					11																	45117366		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45117366A>G	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.10A>G	11.37:g.45117366A>G	ENSP00000435976:p.Met4Val					PRDM11_ENST00000530656.1_Missense_Mutation_p.M4V	p.M4V			Q9NQV5	PRD11_HUMAN			2	259	+			4					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.10A>G		.	.	.	.	.	.	.	.	.	.	A	9.235	1.036838	0.19669	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.20069	2.1;2.1	2.93	2.93	0.34026	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16247	-1.0409	9	0.87932	D	0	.	7.6587	0.28389	1.0:0.0:0.0:0.0	.	4	Q9NQV5	PRD11_HUMAN	V	4	ENSP00000263765:M4V;ENSP00000435976:M4V	ENSP00000263765:M4V	M	+	1	0	PRDM11	45073942	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.130000	0.15850	1.577000	0.49804	0.459000	0.35465	ATG		0.507	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		27	51	0	0	0	1	0	27	51				
LARGE	9215	broad.mit.edu	37	22	33670458	33670458	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	ENST00000354992.2	-	16	2797	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_ENST00000437602.2_Silent_p.Y693Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000452586.2_Silent_p.Y541Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	742					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2224-2226)taC>taT		like-glycosyltransferase							137.0	123.0	128.0					22																	33670458		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33670458G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2226C>T	22.37:g.33670458G>A			OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	LARGE_ENST00000452586.2_Silent_p.Y541Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000437602.2_Silent_p.Y693Y	p.Y742Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			16	2797	-		Lung NSC(1;0.219)	742					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.2226C>T	CCDS13912.1																																																																																				0.542	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		14	109	0	0	0	1	0	14	109				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	33	0	0	0	1	0	8	33				
PKP3	11187	broad.mit.edu	37	11	397651	397651	+	Missense_Mutation	SNP	G	G	A	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	ENST00000331563.2	+	4	1133	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	353					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATGCAGCCGCCAAGAAGCA	0.637																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1057-1059)Gcc>Acc		plakophilin 3			THR/ALA	3,4393	6.2+/-15.9	0,3,2195	61.0	49.0	53.0		1057	4.4	0.5	11	dbSNP_134	53	0,8586		0,0,4293	no	missense	PKP3	NM_007183.2	58	0,3,6488	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	353/798	397651	3,12979	2198	4293	6491	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:397651G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1057G>A	11.37:g.397651G>A	ENSP00000331678:p.Ala353Thr						p.A353T	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1133	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	353					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1057G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	19.26	3.793789	0.70452	6.82E-4	0.0	ENSG00000184363	ENST00000533249;ENST00000331563	T	0.47528	0.84	4.45	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.060946	0.64402	D	0.000004	T	0.66626	0.2808	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.66893	-0.5808	10	0.36615	T	0.2	-20.8877	17.1025	0.86653	0.0:0.0:1.0:0.0	.	353	Q9Y446	PKP3_HUMAN	T	197;353	ENSP00000331678:A353T	ENSP00000331678:A353T	A	+	1	0	PKP3	387651	1.000000	0.71417	0.482000	0.27366	0.071000	0.16799	4.017000	0.57167	2.219000	0.72066	0.556000	0.70494	GCC		0.637	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		7	55	0	0	0	1	0	7	55				
KRT73	319101	broad.mit.edu	37	12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	ENST00000305748.3	-	2	638	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	202	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(604-606)Gtg>Ctg		keratin 73							172.0	155.0	161.0					12																	53010008		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53010008C>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.604G>C	12.37:g.53010008C>G	ENSP00000307014:p.Val202Leu						p.V202L	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	638	-			202			Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.604G>C	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271660	0.23221	.	.	ENSG00000186049	ENST00000305748	D	0.91407	-2.84	5.07	4.18	0.49190	Filament (1);	0.000000	0.47455	D	0.000227	T	0.77598	0.4154	N	0.02275	-0.615	0.27063	N	0.963514	B	0.20052	0.041	B	0.26864	0.074	T	0.68671	-0.5347	10	0.34782	T	0.22	.	11.4977	0.50419	0.0:0.8041:0.1253:0.0706	.	202	Q86Y46	K2C73_HUMAN	L	202	ENSP00000307014:V202L	ENSP00000307014:V202L	V	-	1	0	KRT73	51296275	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.059000	0.14322	1.453000	0.47775	0.655000	0.94253	GTG		0.612	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		25	110	0	0	0	1	0	25	110				
PRDM1	639	broad.mit.edu	37	6	106553787	106553787	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr6:106553787C>T	ENST00000369096.4	+	5	1986	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PRDM1_ENST00000369089.3_Silent_p.F450F|PRDM1_ENST00000369091.2_Silent_p.F548F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	584					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAAGACTTTCGGCCAGCTCT	0.493			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1750-1752)ttC>ttT		PR domain containing 1, with ZNF domain							51.0	46.0	48.0					6																	106553787		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553787C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1752C>T	6.37:g.106553787C>T						PRDM1_ENST00000369091.2_Silent_p.F548F|PRDM1_ENST00000369089.3_Silent_p.F450F	p.F584F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1986	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	584					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.1752C>T	CCDS5054.2																																																																																				0.493	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			4	57	0	0	0	1	0	4	57				
KLB	152831	broad.mit.edu	37	4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGGGGGGTGCGCAAGCTGCTG	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2608-2610)cGc>cAc		klotho beta							63.0	68.0	67.0					4																	39448955		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448955G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2609G>A	4.37:g.39448955G>A	ENSP00000257408:p.Arg870His						p.R870H	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2706	+			870			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2609G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912354	0.92178	.	.	ENSG00000134962	ENST00000257408	T	0.36699	1.24	5.23	4.39	0.52855	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119942	0.56097	D	0.000040	T	0.62146	0.2404	M	0.83312	2.635	0.43471	D	0.99568	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.979	T	0.68796	-0.5314	10	0.87932	D	0	-7.3766	14.0442	0.64695	0.0737:0.0:0.9263:0.0	.	861;870	B7ZL50;Q86Z14	.;KLOTB_HUMAN	H	870	ENSP00000257408:R870H	ENSP00000257408:R870H	R	+	2	0	KLB	39125350	1.000000	0.71417	0.010000	0.14722	0.261000	0.26267	6.650000	0.74368	1.200000	0.43188	0.313000	0.20887	CGC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		5	162	0	0	0	1	0	5	162				
ZNF48	197407	broad.mit.edu	37	16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	586					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(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCTGCCCGCATCAAGCAC	0.592																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1756-1758)cGc>cAc		zinc finger protein 48							105.0	108.0	107.0					16																	30410328		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410328G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1757G>A	16.37:g.30410328G>A	ENSP00000324056:p.Arg586His						p.R586H	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	2133	+			586					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1757G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709960	0.30322	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34507	N	0.003901	T	0.19765	0.0475	N	0.24115	0.695	0.27017	N	0.964547	B	0.26363	0.147	B	0.13407	0.009	T	0.14896	-1.0456	10	0.87932	D	0	-16.7957	10.3576	0.43974	0.0:0.0:0.8042:0.1958	.	586	Q96MX3	ZNF48_HUMAN	H	711;586	ENSP00000324056:R586H	ENSP00000324056:R586H	R	+	2	0	ZNF48	30317829	0.193000	0.23313	0.954000	0.39281	0.780000	0.44128	1.880000	0.39628	2.556000	0.86216	0.557000	0.71058	CGC		0.592	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		4	156	0	0	0	1	0	4	156				
ITGA5	3678	broad.mit.edu	37	12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	ENST00000293379.4	-	20	2365	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	702					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2104-2106)Gag>Cag		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							85.0	80.0	81.0					12																	54795993		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795993C>G		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2104G>C	12.37:g.54795993C>G	ENSP00000293379:p.Glu702Gln					RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.E702Q	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			20	2365	-			702					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2104G>C	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949985	0.92660	.	.	ENSG00000161638	ENST00000293379	T	0.44881	0.91	5.18	5.18	0.71444	Integrin alpha-2 (1);	0.047372	0.85682	D	0.000000	T	0.55337	0.1914	L	0.43152	1.355	0.58432	D	0.999996	D	0.63880	0.993	D	0.63488	0.915	T	0.55224	-0.8174	10	0.56958	D	0.05	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	702	P08648	ITA5_HUMAN	Q	702	ENSP00000293379:E702Q	ENSP00000293379:E702Q	E	-	1	0	ITGA5	53082260	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	5.663000	0.68038	2.599000	0.87857	0.561000	0.74099	GAG		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			19	56	0	0	0	1	0	19	56				
ARID4A	5926	broad.mit.edu	37	14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	ENST00000355431.3	+	20	3549	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1059					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACCTGTAGTATAATTGTA	0.378																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3175-3177)aGt>aCt		AT rich interactive domain 4A (RBP1-like)							64.0	65.0	65.0					14																	58831983		2201	4290	6491	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831983G>C	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3176G>C	14.37:g.58831983G>C	ENSP00000347602:p.Ser1059Thr					ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3549	+			1059					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3176G>C	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086608	0.20390	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.22743	2.22;2.39;2.39;2.39;1.94	5.46	3.65	0.41850	.	0.482702	0.24666	N	0.036585	T	0.19208	0.0461	L	0.54323	1.7	0.21822	N	0.999527	P;B;B	0.35272	0.493;0.061;0.05	B;B;B	0.27380	0.079;0.016;0.033	T	0.09684	-1.0663	10	0.66056	D	0.02	-1.5191	11.8766	0.52550	0.1409:0.0:0.8591:0.0	.	1059;1059;1059	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1059;1059;1059;1059;737	ENSP00000347602:S1059T;ENSP00000344556:S1059T;ENSP00000378597:S1059T;ENSP00000397368:S1059T;ENSP00000416053:S737T	ENSP00000344556:S1059T	S	+	2	0	ARID4A	57901736	1.000000	0.71417	0.053000	0.19242	0.894000	0.52154	4.108000	0.57817	0.702000	0.31825	0.557000	0.71058	AGT		0.378	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		23	47	0	0	0	1	0	23	47				
OR5D18	219438	broad.mit.edu	37	11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	ENST00000333976.4	+	1	367	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(346-348)tTa>tGa		olfactory receptor, family 5, subfamily D, member 18							157.0	157.0	157.0					11																	55587452		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587452T>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.347T>G	11.37:g.55587452T>G	ENSP00000335025:p.Leu116*						p.L116*	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	367	+		all_epithelial(135;0.208)	116					Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.347T>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779221	0.31502	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.84	2.4	0.29515	.	0.000000	0.30869	N	0.008714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7796	9.4221	0.38557	0.2833:0.0:0.0:0.7167	.	.	.	.	X	116	.	ENSP00000335025:L116X	L	+	2	0	OR5D18	55344028	0.971000	0.33674	0.001000	0.08648	0.333000	0.28666	7.682000	0.84083	0.288000	0.22398	0.457000	0.33378	TTA		0.443	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		70	114	0	0	0	1	0	70	114				
ZKSCAN1	7586	broad.mit.edu	37	7	99631511	99631511	+	Silent	SNP	T	T	C	rs200041966		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	ENST00000324306.6	+	6	1617	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y|ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		20500	0.0		0.001	False		,,,				2504	0.0					ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1381-1383)taT>taC		zinc finger with KRAB and SCAN domains 1							140.0	145.0	143.0					7																	99631511		2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631511T>C	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1383T>C	7.37:g.99631511T>C						ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y|ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y	p.Y461Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1617	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		461					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1383T>C	CCDS34698.1																																																																																				0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		104	153	0	0	0	1	0	104	153				
NUP210L	91181	broad.mit.edu	37	1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)cGa>cAa		nucleoporin 210kDa-like							77.0	77.0	77.0					1																	154062057		1892	4122	6014	SO:0001583	missense	91181					integral to membrane		g.chr1:154062057C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2201G>A	1.37:g.154062057C>T	ENSP00000357547:p.Arg734Gln					NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2201G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244852	0.22796	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.22945	1.93;1.93	4.57	1.51	0.23008	.	0.150747	0.30752	N	0.008943	T	0.07098	0.0180	L	0.47716	1.5	0.38637	D	0.951515	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.19976	-1.0289	10	0.14656	T	0.56	-27.8864	7.693	0.28579	0.0:0.6275:0.0:0.3725	.	734;734	E7EP56;Q5VU65	.;P210L_HUMAN	Q	734	ENSP00000357547:R734Q;ENSP00000271854:R734Q	ENSP00000271854:R734Q	R	-	2	0	NUP210L	152328681	0.635000	0.27199	0.958000	0.39756	0.942000	0.58702	-0.037000	0.12164	0.129000	0.18514	-0.444000	0.05651	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	73	0	0	0	1	0	5	73				
ERICH5	203111	broad.mit.edu	37	8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A	rs575526227		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	ENST00000318528.3	+	2	1363	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21967	0.001		0.0	False		,,,				2504	0.0					ENST00000318528.3																			0				kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13						c.(1003-1005)cGc>cAc		chromosome 8 open reading frame 47							84.0	69.0	74.0					8																	99102249		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99102249G>A																												ENST00000318528.3:c.1004G>A	8.37:g.99102249G>A	ENSP00000315614:p.Arg335His					C8orf47_ENST00000545282.1_Intron	p.R335H	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	1363	+	Breast(36;2.31e-06)		335			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.1004G>A	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	G	2.446	-0.327596	0.05314	.	.	ENSG00000177459	ENST00000318528	T	0.21734	1.99	5.13	-1.58	0.08479	.	0.899599	0.09476	N	0.796989	T	0.04588	0.0125	N	0.00972	-1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40701	-0.9549	10	0.02654	T	1	-22.9883	5.122	0.14865	0.4479:0.1787:0.3733:0.0	.	335	Q6P6B1	CH047_HUMAN	H	335	ENSP00000315614:R335H	ENSP00000315614:R335H	R	+	2	0	C8orf47	99171425	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	0.379000	0.20585	-0.102000	0.12197	-1.004000	0.02495	CGC		0.483	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			24	60	0	0	0	1	0	24	60				
PDE2A	5138	broad.mit.edu	37	11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	ENST00000334456.5	-	22	2152	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F|PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	636	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CAGGGTCGGGCAGTCAATTTT	0.577																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1906-1908)tGc>tTc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						76.0	77.0	77.0					11																	72292936		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292936C>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1907G>T	11.37:g.72292936C>A	ENSP00000334910:p.Cys636Phe					PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F	p.C636F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		22	2152	-			636			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1907G>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858480	0.17178	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.71	5.71	0.89125	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.296062	0.33496	N	0.004854	T	0.60637	0.2284	N	0.22421	0.69	0.43522	D	0.995798	B;B;B;B;B;B	0.25809	0.064;0.026;0.047;0.131;0.026;0.135	B;B;B;B;B;B	0.24006	0.041;0.023;0.023;0.05;0.023;0.004	T	0.56836	-0.7913	10	0.10902	T	0.67	.	16.5862	0.84727	0.0:1.0:0.0:0.0	.	521;636;627;629;636;380	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	F	636;380;627;705;629;521;627;15;177;67	ENSP00000334910:C636F;ENSP00000365633:C380F;ENSP00000411657:C627F;ENSP00000442256:C629F;ENSP00000410310:C521F;ENSP00000446399:C627F;ENSP00000388997:C15F;ENSP00000392457:C177F;ENSP00000440834:C67F	ENSP00000334910:C636F	C	-	2	0	PDE2A	71970584	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.564000	0.67359	2.711000	0.92665	0.563000	0.77884	TGC		0.577	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		9	63	1	0	2.74318e-10	1	2.87809e-10	9	63				
PLCB4	5332	broad.mit.edu	37	20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	ENST00000378493.1	+	19	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_ENST00000378501.2_Missense_Mutation_p.K605E|PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	605	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1813-1815)Aag>Gag		phospholipase C, beta 4							93.0	87.0	89.0					20																	9389339		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389339A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1813A>G	20.37:g.9389339A>G	ENSP00000367754:p.Lys605Glu					PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000378493.1_Missense_Mutation_p.K605E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E	p.K605E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			19	1828	+			605			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1813A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123420	0.94429	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.87	5.87	0.94306	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.045133	0.85682	D	0.000000	T	0.79470	0.4451	L	0.60904	1.88	0.80722	D	1	D;B;P;D	0.71674	0.998;0.057;0.869;0.989	D;B;P;P	0.74674	0.984;0.051;0.724;0.878	T	0.81138	-0.1069	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	617;452;605;605	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	605;617;605;605;605;453	ENSP00000334105:K605E;ENSP00000367734:K617E;ENSP00000278655:K605E;ENSP00000367754:K605E;ENSP00000367762:K605E;ENSP00000390616:K453E	ENSP00000278655:K605E	K	+	1	0	PLCB4	9337339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	AAG		0.373	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			6	11	0	0	0	1	0	6	11				
SLC12A5	57468	broad.mit.edu	37	20	44672351	44672351	+	Silent	SNP	C	C	T	rs10460627		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:44672351C>T	ENST00000454036.2	+	10	1435	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	SLC12A5_ENST00000243964.3_Silent_p.I439I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	462					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.I439I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTGGCCATCGCCACCACCT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.001		0.0	False		,,,				2504	0.0					ENST00000454036.1																			1	Substitution - coding silent(1)	p.I439I(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1384-1386)atC>atT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						94.0	86.0	89.0					20																	44672351		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672351C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1386C>T	20.37:g.44672351C>T						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.I439I	p.I462I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			10	1462	+		Myeloproliferative disorder(115;0.0122)	462					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1386C>T	CCDS46610.1																																																																																				0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			4	106	0	0	0	1	0	4	106				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	28	0	0	0	1	0	3	28				
GBA3	57733	broad.mit.edu	37	4	22749309	22749309	+	RNA	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:22749309C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCACTTTTTGCGGTCTGGTTG	0.433																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							160.0	156.0	157.0					4																	22749309		1883	4097	5980			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749309C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749309C>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			4	179	0	0	0	1	0	4	179				
AP2A2	161	broad.mit.edu	37	11	986944	986944	+	Silent	SNP	C	C	T	rs376964234		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	ENST00000448903.2	+	9	1263	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.N375N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	374					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGTCATCAACGCCCTGAAGG	0.617																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1120-1122)aaC>aaT		adaptor-related protein complex 2, alpha 2 subunit		C	,	2,4334		0,2,2166	48.0	55.0	53.0		1125,1122	-6.6	0.4	11		53	0,8508		0,0,4254	no	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	0,2,6420	TT,TC,CC		0.0,0.0461,0.0156	,	375/941,374/940	986944	2,12842	2168	4254	6422	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:986944C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1122C>T	11.37:g.986944C>T						AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.N375N	p.N374N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	9	1263	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	374					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1122C>T	CCDS44512.1																																																																																				0.617	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		3	12	0	0	0	1	0	3	12				
DHRSX	207063	broad.mit.edu	37	X	2161263	2161263	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	ENST00000334651.5	-	6	657	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	202							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGGGTGAGTAGCAGGCACT	0.642																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(604-606)tAc>tGc		dehydrogenase/reductase (SDR family) X-linked							118.0	100.0	106.0					X																	2161263		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161263T>C	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.605A>G	X.37:g.2161263T>C	ENSP00000334113:p.Tyr202Cys						p.Y202C	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	657	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	202					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.605A>G	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405952	0.42715	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.95918	-3.85;-3.85	1.45	1.45	0.22620	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.163700	0.41823	U	0.000811	D	0.97337	0.9129	M	0.89214	3.015	0.29501	N	0.854926	D	0.89917	1.0	D	0.91635	0.999	D	0.93514	0.6855	10	0.87932	D	0	.	8.589	0.33674	0.0:0.0:0.0:1.0	.	202	Q8N5I4	DHRSX_HUMAN	C	202;179	ENSP00000334113:Y202C;ENSP00000391778:Y179C	ENSP00000334113:Y202C	Y	-	2	0	DHRSX	2171263	1.000000	0.71417	0.477000	0.27303	0.314000	0.28054	6.025000	0.70864	0.357000	0.24183	0.046000	0.15203	TAC		0.642	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		8	28	0	0	0	1	0	8	28				
KLHL7	55975	broad.mit.edu	37	7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	ENST00000339077.5	+	11	1970	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S|KLHL7_ENST00000322231.7_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	576					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTCGATACTTGTGGAGCA	0.408																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1660-1662)aCt>aGt		kelch-like family member 7							131.0	130.0	130.0					7																	23213883		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213883C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1727C>G	7.37:g.23213883C>G	ENSP00000343273:p.Thr576Ser					AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.T576S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S	p.T554S			Q8IXQ5	KLHL7_HUMAN			12	2151	+			576					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1661C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432954	0.62844	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72505	-0.53;-0.53;-0.49;-0.66;-0.52;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.29908	0.895	0.58432	D	0.999998	B;B;B	0.34290	0.036;0.319;0.447	B;P;P	0.52514	0.014;0.506;0.701	T	0.70414	-0.4878	10	0.28530	T	0.3	.	19.3302	0.94283	0.0:1.0:0.0:0.0	.	351;576;554	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	S	417;554;576;500;351;528;554	ENSP00000322958:T554S;ENSP00000343273:T576S;ENSP00000441136:T500S;ENSP00000442367:T351S;ENSP00000386263:T528S;ENSP00000442366:T554S	ENSP00000322958:T554S	T	+	2	0	KLHL7	23180408	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.294000	0.78760	2.566000	0.86566	0.655000	0.94253	ACT		0.408	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		15	66	0	0	0	1	0	15	66				
CYLC1	1538	broad.mit.edu	37	X	83116196	83116196	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	ENST00000329312.4	+	1	43	c.6T>C	c.(4-6)tcT>tcC	p.S2S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAAATGTCTCTTCCAAGGT	0.313																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(4-6)tcT>tcC		cylicin, basic protein of sperm head cytoskeleton 1							98.0	88.0	92.0					X																	83116196		2202	4300	6502	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83116196T>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.6T>C	X.37:g.83116196T>C							p.S2S	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			1	43	+			2					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.6T>C	CCDS35341.1																																																																																				0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		10	35	0	0	0	1	0	10	35				
TMC8	147138	broad.mit.edu	37	17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	rs149327841		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	ENST00000318430.5	+	12	1770	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	466					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGGCTGGAACGGGAGGAGTT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19045	0.0		0.001	False		,,,				2504	0.0					ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1396-1398)Cgg>Tgg		transmembrane channel-like 8							80.0	84.0	83.0					17																	76134132		2203	4300	6503	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76134132C>T	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1396C>T	17.37:g.76134132C>T	ENSP00000325561:p.Arg466Trp					TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	p.R466W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		12	1770	+			466					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.1396C>T	CCDS32749.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.58	3.654970	0.67472	.	.	ENSG00000167895	ENST00000318430	T	0.64803	-0.12	4.43	3.38	0.38709	.	0.251977	0.39146	N	0.001445	T	0.72518	0.3470	L	0.59436	1.845	0.36627	D	0.876065	D	0.89917	1.0	D	0.78314	0.991	T	0.75836	-0.3177	10	0.38643	T	0.18	-29.0134	12.3085	0.54915	0.2411:0.7589:0.0:0.0	.	466	Q8IU68	TMC8_HUMAN	W	466	ENSP00000325561:R466W	ENSP00000325561:R466W	R	+	1	2	TMC8	73645727	0.172000	0.23043	0.993000	0.49108	0.945000	0.59286	0.766000	0.26560	2.176000	0.68965	0.563000	0.77884	CGG		0.647	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			16	117	0	0	0	1	0	16	117				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	64	0	0	0	1	0	4	64				
DQX1	165545	broad.mit.edu	37	2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	ENST00000404568.3	-	7	1484	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_ENST00000393951.2_Missense_Mutation_p.I422T|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	422	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1264-1266)aTt>aCt		DEAQ box RNA-dependent ATPase 1							103.0	98.0	100.0					2																	74750021		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750021A>G	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1265T>C	2.37:g.74750021A>G	ENSP00000384621:p.Ile422Thr					DQX1_ENST00000393951.2_Missense_Mutation_p.I422T	p.I422T	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			7	1484	-			422			Helicase C-terminal.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1265T>C	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597518	0.66332	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.05319	3.46;3.46	4.99	4.99	0.66335	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27241	0.0668	M	0.89163	3.01	0.46874	D	0.999231	D	0.76494	0.999	D	0.64144	0.922	T	0.07790	-1.0754	10	0.72032	D	0.01	-27.8683	12.6346	0.56677	1.0:0.0:0.0:0.0	.	422	Q8TE96	DQX1_HUMAN	T	422	ENSP00000377523:I422T;ENSP00000384621:I422T	ENSP00000377523:I422T	I	-	2	0	DQX1	74603529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.510000	0.90532	1.879000	0.54435	0.454000	0.30748	ATT		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		53	79	0	0	0	1	0	53	79				
GPR162	27239	broad.mit.edu	37	12	6933811	6933811	+	Silent	SNP	C	C	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6933811C>A	ENST00000311268.3	+	2	1534	c.747C>A	c.(745-747)gcC>gcA	p.A249A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGAGGATGCCCGAGGGAAGC	0.642																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(745-747)gcC>gcA		G protein-coupled receptor 162							47.0	49.0	48.0					12																	6933811		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933811C>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.747C>A	12.37:g.6933811C>A						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.A249A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1534	+			249					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.747C>A	CCDS8563.1																																																																																				0.642	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		4	93	1	0	2.56e-06	1	2.60063e-06	4	93				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	9						4	9	---	---	---	---
LAG3	3902	broad.mit.edu	37	12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	ENST00000203629.2	+	3	618_619	c.285_286insC	c.(286-288)cccfs	p.P96fs	LAG3_ENST00000441671.2_Frame_Shift_Ins_p.P96fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	96	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(283-288)agcccgfs		lymphocyte-activation gene 3																																				SO:0001589	frameshift_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6882941_6882942insC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.289dupC	12.37:g.6882945_6882945dupC	ENSP00000203629:p.Pro96fs					LAG3_ENST00000441671.2_Frame_Shift_Ins_p.SP95fs	p.SP95fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			3	618_619	+			95			Ig-like V-type.		A8K7T9|Q7Z643	Frame_Shift_Ins	INS	ENST00000203629.2	37	c.285_286insC	CCDS8561.1																																																																																				0.792	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			3	5						3	5	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	ENST00000360184.4	+	13	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.E1101fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1101	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACCAAGAAAGAGTTTGGACC	0.436																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(3298-3303)aaagfs		dynein, cytoplasmic 1, heavy chain 1																																				SO:0001589	frameshift_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102461153_102461154delAG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3300_3301delAG	14.37:g.102461155_102461156delAG	ENSP00000348965:p.Glu1101fs						p.KE1100fs	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			13	3464_3465	+			1100			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	c.3300_3301delAG	CCDS9966.1																																																																																				0.436	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	51						8	51	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	ENST00000398485.2	+	4	1220_1221	c.1166_1167insG	c.(1165-1170)ccgggcfs	p.PG389fs	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Frame_Shift_Ins_p.PG365fs	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	389					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCTCGCCCCGGGCCCGCCGT	0.748																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1165-1167)cggfs		paired box 1																																				SO:0001589	frameshift_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689966_21689967insG		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1169dupG	20.37:g.21689969_21689969dupG	ENSP00000381499:p.Pro389fs					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Frame_Shift_Ins_p.R365fs	p.R389fs	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1220_1221	+			389					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Frame_Shift_Ins	INS	ENST00000398485.2	37	c.1166_1167insG	CCDS13146.2																																																																																				0.748	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			12	80						12	80	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	3						5	3	---	---	---	---
