#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:8115874C>T	ENST00000346208.3	+	6	1675	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.S408L			P23771	GATA3_HUMAN	GATA binding protein 3	407					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		5	Insertion - Frameshift(5)	p.P409fs*>37(5)	breast(5)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1222-1224)tCg>tTg		GATA binding protein 3							94.0	86.0	89.0					10																	8115874		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115874C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1220C>T	10.37:g.8115874C>T	ENSP00000341619:p.Ser407Leu		Somatic				GATA3_ENST00000346208.3_Missense_Mutation_p.S407L|GATA3_ENST00000461472.1_3'UTR	p.S408L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina GAIIx	Phase_I	P23771	GATA3_HUMAN			6	1791	+			407					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1223C>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251642	0.39797	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96365	-3.99;-3.97	5.26	5.26	0.73747	.	0.097993	0.45126	D	0.000383	D	0.88032	0.6328	N	0.03608	-0.345	0.51233	D	0.999911	P;P	0.40602	0.645;0.723	B;B	0.30029	0.054;0.11	D	0.88486	0.3072	10	0.16420	T	0.52	-16.9879	18.8714	0.92317	0.0:1.0:0.0:0.0	.	407;408	P23771;P23771-2	GATA3_HUMAN;.	L	408;407	ENSP00000368632:S408L;ENSP00000341619:S407L	ENSP00000341619:S407L	S	+	2	0	GATA3	8155880	1.000000	0.71417	0.803000	0.32268	0.996000	0.88848	6.040000	0.70980	2.447000	0.82792	0.462000	0.41574	TCG		0.602	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		17	76	0	0	0	0.539581	0	17	76				
SST	6750	broad.mit.edu	37	3	187386909	187386909	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:187386909G>T	ENST00000287641.3	-	2	402	c.295C>A	c.(295-297)Cga>Aga	p.R99R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	99					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)	p.R99R(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TTGCGTTCTCGGGGTGCCATA	0.498																																						ENST00000287641.3																			1	Substitution - coding silent(1)	p.R99R(1)	lung(1)	kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(295-297)Cga>Aga		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						193.0	193.0	193.0					3																	187386909		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386909G>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.295C>A	3.37:g.187386909G>T			Somatic					p.R99R	NM_001048.3	NP_001039.1	WXS	Illumina GAIIx	Phase_I	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	402	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		99					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.295C>A	CCDS3288.1																																																																																				0.498	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		28	274	1	0	3.73988e-18	0.706142	4.48786e-18	28	274				
VEGFC	7424	broad.mit.edu	37	4	177632795	177632795	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:177632795T>G	ENST00000280193.2	-	4	977	c.562A>C	c.(562-564)Att>Ctt	p.I188L	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	188					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACTGTAATTTCAAATAAC	0.368																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(562-564)Att>Ctt		vascular endothelial growth factor C							129.0	122.0	124.0					4																	177632795		1850	4090	5940	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177632795T>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.562A>C	4.37:g.177632795T>G	ENSP00000280193:p.Ile188Leu		Somatic				VEGFC_ENST00000507638.1_5'UTR	p.I188L	NM_005429.2	NP_005420.1	WXS	Illumina GAIIx	Phase_I	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	4	977	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	188					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.562A>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753466	0.89753	.	.	ENSG00000150630	ENST00000280193	.	.	.	6.07	6.07	0.98685	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	D	0.85130	0.997	T	0.77835	-0.2440	9	0.59425	D	0.04	-15.2756	16.635	0.85050	0.0:0.0:0.0:1.0	.	188	P49767	VEGFC_HUMAN	L	188	.	ENSP00000280193:I188L	I	-	1	0	VEGFC	177869789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.330000	0.79161	0.477000	0.44152	ATT		0.368	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		21	119	0	0	0	0.592651	0	21	119				
RHAG	6005	broad.mit.edu	37	6	49604371	49604371	+	Missense_Mutation	SNP	G	G	C	rs387906519		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:49604371G>C	ENST00000371175.4	-	1	181	c.155C>G	c.(154-156)cCt>cGt	p.P52R	RHAG_ENST00000229810.7_Missense_Mutation_p.P52R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTACTCACGAGGATATAACTC	0.373																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(154-156)cCt>cGt		Rh-associated glycoprotein							185.0	178.0	180.0					6																	49604371		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49604371G>C		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.155C>G	6.37:g.49604371G>C	ENSP00000360217:p.Pro52Arg		Somatic				RHAG_ENST00000229810.7_Missense_Mutation_p.P52R	p.P52R	NM_000324.2	NP_000315.2	WXS	Illumina GAIIx	Phase_I	Q02094	RHAG_HUMAN			1	181	-	Lung NSC(77;0.0255)		52					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.155C>G	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388342	0.82902	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23147	1.92;1.92	5.6	5.6	0.85130	Ammonium transporter AmtB-like (3);	0.156891	0.64402	D	0.000016	T	0.47857	0.1468	M	0.86268	2.805	0.80722	D	1	D;P;P	0.58268	0.982;0.941;0.95	D;P;P	0.64321	0.924;0.684;0.684	T	0.54111	-0.8342	10	0.87932	D	0	-0.3925	17.1276	0.86718	0.0:0.0:1.0:0.0	.	52;52;52	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	R	52	ENSP00000360217:P52R;ENSP00000229810:P52R	ENSP00000229810:P52R	P	-	2	0	RHAG	49712330	1.000000	0.71417	0.982000	0.44146	0.946000	0.59487	3.604000	0.54081	2.636000	0.89361	0.591000	0.81541	CCT		0.373	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			30	153	0	0	0	0.750413	0	30	153				
CCDC158	339965	broad.mit.edu	37	4	77274325	77274325	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:77274325T>C	ENST00000388914.3	-	15	2548	c.2396A>G	c.(2395-2397)gAa>gGa	p.E799G		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	799										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAAACGGCGTTCCTGAGATCG	0.353																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2395-2397)gAa>gGa		coiled-coil domain containing 158							120.0	113.0	115.0					4																	77274325		1842	4084	5926	SO:0001583	missense	339965							g.chr4:77274325T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2396A>G	4.37:g.77274325T>C	ENSP00000373566:p.Glu799Gly		Somatic					p.E799G	NM_001042784.1	NP_001036249.1	WXS	Illumina GAIIx	Phase_I	Q5M9N0	CD158_HUMAN			15	2548	-			799					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2396A>G	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149459	0.57151	.	.	ENSG00000163749	ENST00000388914	T	0.35236	1.32	4.95	4.95	0.65309	.	0.000000	0.47455	D	0.000229	T	0.33933	0.0880	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.53861	0.736	T	0.04752	-1.0929	10	0.26408	T	0.33	.	12.2336	0.54503	0.0:0.0:0.0:1.0	.	799	Q5M9N0	CD158_HUMAN	G	799	ENSP00000373566:E799G	ENSP00000373566:E799G	E	-	2	0	CCDC158	77493349	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.878000	0.63093	2.082000	0.62665	0.533000	0.62120	GAA		0.353	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		14	58	0	0	0	0.457914	0	14	58				
DOK4	55715	broad.mit.edu	37	16	57509512	57509512	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:57509512G>A	ENST00000340099.4	-	4	566	c.195C>T	c.(193-195)gtC>gtT	p.V65V	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.V65V|DOK4_ENST00000566936.1_Silent_p.V65V	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	65	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TAACACACTTGACGTTGCTGA	0.572																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(193-195)gtC>gtT		docking protein 4							73.0	60.0	64.0					16																	57509512		2198	4300	6498	SO:0001819	synonymous_variant	55715						insulin receptor binding	g.chr16:57509512G>A	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.195C>T	16.37:g.57509512G>A			Somatic				DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.V65V|DOK4_ENST00000340099.4_Silent_p.V65V	p.V65V			WXS	Illumina GAIIx	Phase_I	Q8TEW6	DOK4_HUMAN			3	492	-			65			PH.		O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	c.195C>T	CCDS10783.1																																																																																				0.572	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			4	18	0	0	0	0.150653	0	4	18				
TJP3	27134	broad.mit.edu	37	19	3728677	3728677	+	Missense_Mutation	SNP	G	G	A	rs150589606		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:3728677G>A	ENST00000541714.2	+	3	586	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	TJP3_ENST00000262968.9_Missense_Mutation_p.V61M|TJP3_ENST00000589378.1_Missense_Mutation_p.V51M|TJP3_ENST00000587686.1_Missense_Mutation_p.V61M|TJP3_ENST00000382008.3_Missense_Mutation_p.V42M|TJP3_ENST00000539908.2_Missense_Mutation_p.V6M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	42	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTATCTGACGTGGTACCTGG	0.652																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(124-126)Gtg>Atg		tight junction protein 3		G	MET/VAL	0,4406		0,0,2203	37.0	40.0	39.0		181	4.0	0.9	19	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	TJP3	NM_014428.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	61/953	3728677	1,13005	2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3728677G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.124G>A	19.37:g.3728677G>A	ENSP00000439278:p.Val42Met		Somatic				TJP3_ENST00000589378.1_Missense_Mutation_p.V51M|TJP3_ENST00000262968.9_Missense_Mutation_p.V61M|TJP3_ENST00000382008.3_Missense_Mutation_p.V42M|TJP3_ENST00000539908.2_Missense_Mutation_p.V6M|TJP3_ENST00000587686.1_Missense_Mutation_p.V61M	p.V42M	NM_001267560.1	NP_001254489.1	WXS	Illumina GAIIx	Phase_I	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	3	586	+			42			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.124G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092056	0.55968	0.0	1.16E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.60424	0.93;0.19;0.93;1.64	4.02	4.02	0.46733	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.80121	0.4565	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.79108	0.986;0.917;0.992;0.991	D	0.84709	0.0733	10	0.54805	T	0.06	.	15.7177	0.77681	0.0:0.0:1.0:0.0	.	61;61;42;42	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	M	42;6;42;61	ENSP00000439278:V42M;ENSP00000439991:V6M;ENSP00000371438:V42M;ENSP00000262968:V61M	ENSP00000262968:V61M	V	+	1	0	TJP3	3679677	1.000000	0.71417	0.908000	0.35775	0.044000	0.14063	8.821000	0.92009	2.253000	0.74438	0.456000	0.33151	GTG		0.652	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			9	44	0	0	0	0.387290	0	9	44				
PBRM1	55193	broad.mit.edu	37	3	52713603	52713603	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52713603G>A	ENST00000296302.7	-	1	126	c.125C>T	c.(124-126)cCa>cTa	p.P42L	PBRM1_ENST00000410007.1_Missense_Mutation_p.P42L|PBRM1_ENST00000356770.4_Missense_Mutation_p.P42L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P42L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P42L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P42L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P42L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P42L			Q86U86	PB1_HUMAN	polybromo 1	42					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTACAGTTGGAAGATTGGA	0.478			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(124-126)cCa>cTa		polybromo 1							131.0	115.0	121.0					3																	52713603		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52713603G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.125C>T	3.37:g.52713603G>A	ENSP00000296302:p.Pro42Leu		Somatic				PBRM1_ENST00000296302.7_Missense_Mutation_p.P42L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P42L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P42L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P42L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P42L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P42L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P42L	p.P42L			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	127	-			42					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.372749	0.82573	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Bromodomain (2);	0.055164	0.64402	D	0.000001	T	0.30759	0.0775	L	0.48642	1.525	0.80722	D	1	D;P;D;P;D;P;D;P	0.58268	0.977;0.728;0.977;0.944;0.982;0.842;0.977;0.728	P;B;P;P;P;B;P;B	0.53450	0.656;0.272;0.656;0.563;0.726;0.122;0.656;0.272	T	0.00699	-1.1604	10	0.62326	D	0.03	-7.9696	19.7082	0.96082	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42;42;42	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	L	42	ENSP00000349213:P42L;ENSP00000378307:P42L;ENSP00000296302:P42L;ENSP00000338302:P42L;ENSP00000386593:P42L;ENSP00000386529:P42L;ENSP00000386643:P42L;ENSP00000386601:P42L;ENSP00000387775:P42L;ENSP00000409939:P42L;ENSP00000389390:P42L;ENSP00000412401:P42L;ENSP00000416851:P42L	ENSP00000296302:P42L	P	-	2	0	PBRM1	52688643	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.430000	0.97488	2.651000	0.90000	0.585000	0.79938	CCA		0.478	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		18	47	0	0	0	0.539581	0	18	47				
ASB8	140461	broad.mit.edu	37	12	48547183	48547183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:48547183G>A	ENST00000317697.3	-	2	266	c.97C>T	c.(97-99)Cca>Tca	p.P33S	ASB8_ENST00000535055.1_Missense_Mutation_p.P33S|ASB8_ENST00000535988.1_Missense_Mutation_p.P33S|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000536071.1_Missense_Mutation_p.P33S|ASB8_ENST00000536549.1_Missense_Mutation_p.P33S|ASB8_ENST00000540782.1_Missense_Mutation_p.P33S|ASB8_ENST00000536953.1_Missense_Mutation_p.P33S|ASB8_ENST00000539528.1_Missense_Mutation_p.P33S	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	33					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TTATCATGTGGGAAGGAACGG	0.468																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(97-99)Cca>Tca		ankyrin repeat and SOCS box containing 8							206.0	198.0	201.0					12																	48547183		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48547183G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.97C>T	12.37:g.48547183G>A	ENSP00000320893:p.Pro33Ser		Somatic				ASB8_ENST00000535988.1_Missense_Mutation_p.P33S|ASB8_ENST00000540782.1_Missense_Mutation_p.P33S|ASB8_ENST00000539528.1_Missense_Mutation_p.P33S|ASB8_ENST00000535055.1_Missense_Mutation_p.P33S|ASB8_ENST00000536953.1_Missense_Mutation_p.P33S|ASB8_ENST00000536549.1_Missense_Mutation_p.P33S|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000536071.1_Missense_Mutation_p.P33S	p.P33S	NM_024095.3	NP_077000.1	WXS	Illumina GAIIx	Phase_I	Q9H765	ASB8_HUMAN			2	266	-			33					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.97C>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912692	0.52439	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;0.07;0.07;0.07;0.07;-0.16;0.06;0.06;0.07;0.07	5.07	5.07	0.68467	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	N	0.01122	-1.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.54761	-0.8245	10	0.02654	T	1	-8.8654	18.4424	0.90671	0.0:0.0:1.0:0.0	.	33	Q9H765	ASB8_HUMAN	S	33	ENSP00000320893:P33S;ENSP00000445622:P33S;ENSP00000438498:P33S;ENSP00000445540:P33S;ENSP00000440773:P33S;ENSP00000442737:P33S;ENSP00000444093:P33S;ENSP00000437769:P33S;ENSP00000442639:P33S;ENSP00000437530:P33S;ENSP00000443148:P33S	ENSP00000320893:P33S	P	-	1	0	ASB8	46833450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.521000	0.84997	0.650000	0.86243	CCA		0.468	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			11	173	0	0	0	0.387290	0	11	173				
ENPP3	5169	broad.mit.edu	37	6	131958572	131958572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:131958572C>T	ENST00000414305.1	+	2	376	c.48C>T	c.(46-48)aaC>aaT	p.N16N	ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000358229.5_Silent_p.N16N|ENPP3_ENST00000357639.3_Silent_p.N16N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	16					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTAAGAAGAACACTCTTAAGA	0.318																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(46-48)aaC>aaT		ectonucleotide pyrophosphatase/phosphodiesterase 3							90.0	90.0	90.0					6																	131958572		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131958572C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.48C>T	6.37:g.131958572C>T			Somatic				ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000358229.5_Silent_p.N16N|ENPP3_ENST00000357639.3_Silent_p.N16N|ENPP3_ENST00000427148.2_5'UTR	p.N16N			WXS	Illumina GAIIx	Phase_I	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	2	376	+	Breast(56;0.0753)		16					Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.48C>T	CCDS5148.1																																																																																				0.318	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			4	42	0	0	0	0.184627	0	4	42				
CSMD3	114788	broad.mit.edu	37	8	113697846	113697846	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:113697846G>T	ENST00000297405.5	-	15	2515	c.2271C>A	c.(2269-2271)agC>agA	p.S757R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S717R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S757R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S653R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	757	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGTATCCGGCTCCCTGGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2269-2271)agC>agA		CUB and Sushi multiple domains 3							98.0	106.0	104.0					8																	113697846		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697846G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2271C>A	8.37:g.113697846G>T	ENSP00000297405:p.Ser757Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.S653R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S757R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S717R	p.S757R	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			15	2515	-			757			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2271C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949752	0.53186	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.96	1.28	0.21552	CUB (5);	0.152775	0.46442	D	0.000281	T	0.65801	0.2726	L	0.53617	1.68	0.27280	N	0.958117	P;D;D	0.76494	0.946;0.981;0.999	P;D;D	0.91635	0.71;0.924;0.999	T	0.59059	-0.7525	10	0.23302	T	0.38	.	10.5713	0.45202	0.4388:0.0:0.5612:0.0	.	653;757;717	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	717;757;97;653;757	ENSP00000345799:S717R;ENSP00000297405:S757R;ENSP00000341558:S97R;ENSP00000412263:S653R;ENSP00000343124:S757R	ENSP00000297405:S757R	S	-	3	2	CSMD3	113767022	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	1.327000	0.33746	-0.060000	0.13132	0.655000	0.94253	AGC		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	154	1	0	5.3912e-06	0.539581	5.88131e-06	17	154				
SEC22C	9117	broad.mit.edu	37	3	42602763	42602763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:42602763C>T	ENST00000264454.3	-	4	515	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SEC22C_ENST00000423701.2_Nonsense_Mutation_p.W124*|SEC22C_ENST00000417572.1_Nonsense_Mutation_p.W124*|SEC22C_ENST00000273156.7_Nonsense_Mutation_p.W124*|SEC22C_ENST00000536332.1_Nonsense_Mutation_p.W54*|SEC22C_ENST00000493107.1_5'UTR			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	124					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGTTAAAATGCCACTTCACTT	0.408																																						ENST00000273156.7																			0				endometrium(1)|large_intestine(2)	3						c.(370-372)tgG>tgA		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)							81.0	80.0	81.0					3																	42602763		2203	4300	6503	SO:0001587	stop_gained	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42602763C>T	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.372G>A	3.37:g.42602763C>T	ENSP00000264454:p.Trp124*		Somatic				SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Nonsense_Mutation_p.W124*|SEC22C_ENST00000423701.2_Nonsense_Mutation_p.W124*|SEC22C_ENST00000264454.3_Nonsense_Mutation_p.W124*|SEC22C_ENST00000536332.1_Nonsense_Mutation_p.W54*	p.W124*	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	WXS	Illumina GAIIx	Phase_I	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	4	581	-			124					O95152|Q68CX3|Q6UW18	Nonsense_Mutation	SNP	ENST00000264454.3	37	c.372G>A	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.284457|7.284457	0.98186|0.98186	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000451653|ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332;ENST00000264454;ENST00000456515;ENST00000450981	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.351137	.|0.33127	.|N	.|0.005244	T|.	0.59715|.	0.2214|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62358|.	-0.6871|.	3|.	.|0.24483	.|T	.|0.36	-6.3107|-6.3107	13.6909|13.6909	0.62544|0.62544	0.0:0.7997:0.2003:0.0|0.0:0.7997:0.2003:0.0	.|.	.|.	.|.	.|.	T|X	46|124;124;124;54;124;124;124	.|.	.|ENSP00000264454:W124X	A|W	-|-	1|3	0|0	SEC22C|SEC22C	42577767|42577767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.017000|1.017000	0.29989|0.29989	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.408	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		4	84	0	0	0	0.150653	0	4	84				
HMGCLL1	54511	broad.mit.edu	37	6	55381307	55381307	+	Splice_Site	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:55381307G>T	ENST00000398661.2	-	5	613	c.482C>A	c.(481-483)gCt>gAt	p.A161D	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Splice_Site_p.A131D|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	161					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACACTTACAGCATGGTGAAA	0.343																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e5+1		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							134.0	128.0	130.0					6																	55381307		1850	4095	5945	SO:0001630	splice_region_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55381307G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.483+1C>A	6.37:g.55381307G>T			Somatic				HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Splice_Site_p.A131_splice|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron	p.A161_splice	NM_019036.2	NP_061909.2	WXS	Illumina GAIIx	Phase_I	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	613	-	Lung NSC(77;0.0875)		161					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Splice_Site	SNP	ENST00000398661.2	37	c.483_splice	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023653	0.75390	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.99014	-5.33;-5.33	5.21	5.21	0.72293	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.114751	0.64402	D	0.000013	D	0.99677	0.9879	H	0.98769	4.325	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.75020	0.945;0.985	D	0.97309	0.9936	10	0.87932	D	0	-31.0236	18.7395	0.91768	0.0:0.0:1.0:0.0	.	131;161	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	D	131;161	ENSP00000274901:A131D;ENSP00000381654:A161D	ENSP00000274901:A131D	A	-	2	0	HMGCLL1	55489266	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.876000	0.87215	2.437000	0.82529	0.313000	0.20887	GCT		0.343	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	Missense_Mutation	9	72	1	0	7.48243e-07	0.335167	8.33095e-07	9	72				
ERBB4	2066	broad.mit.edu	37	2	212615417	212615417	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:212615417T>C	ENST00000342788.4	-	5	879	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ERBB4_ENST00000402597.1_Missense_Mutation_p.H190R|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.H190R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	190	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAGGACTTATGGCAACGTCC	0.463										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(568-570)cAt>cGt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							128.0	111.0	117.0					2																	212615417		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212615417T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.569A>G	2.37:g.212615417T>C	ENSP00000342235:p.His190Arg	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000402597.1_Missense_Mutation_p.H190R|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.H190R	p.H190R	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	5	879	-		Renal(323;0.06)|Lung NSC(271;0.197)	190			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.569A>G	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.41|14.41	2.527899|2.527899	0.44969|0.44969	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.82803|.	-1.65;-1.65;-1.65|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.189822|.	0.56097|.	D|.	0.000029|.	T|T	0.70718|0.70718	0.3256|0.3256	M|M	0.79693|0.79693	2.465|2.465	0.34910|0.34910	D|D	0.747359|0.747359	P;B;B;P;P|.	0.38167|.	0.567;0.427;0.319;0.567;0.621|.	B;B;B;B;B|.	0.37015|.	0.067;0.029;0.239;0.067;0.11|.	T|T	0.80317|0.80317	-0.1433|-0.1433	10|5	0.40728|.	T|.	0.16|.	.|.	11.7493|11.7493	0.51839|0.51839	0.0:0.0:0.1471:0.8529|0.0:0.0:0.1471:0.8529	.|.	190;190;49;190;190|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	R|V	190|190	ENSP00000342235:H190R;ENSP00000403204:H190R;ENSP00000385565:H190R|.	ENSP00000342235:H190R|.	H|I	-|-	2|1	0|0	ERBB4|ERBB4	212323662|212323662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.122000|4.122000	0.57910|0.57910	2.121000|2.121000	0.65114|0.65114	0.529000|0.529000	0.55759|0.55759	CAT|ATA		0.463	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		19	55	0	0	0	0.592651	0	19	55				
TMPRSS9	360200	broad.mit.edu	37	19	2424138	2424138	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:2424138C>T	ENST00000332578.3	+	14	2498	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	833	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGCAGCGCAGCGGGCCGTGGG	0.761																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2497-2499)gCg>gTg		transmembrane protease, serine 9							9.0	13.0	11.0					19																	2424138		2105	4056	6161	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2424138C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2498C>T	19.37:g.2424138C>T	ENSP00000330264:p.Ala833Val		Somatic					p.A833V	NM_182973.1	NP_892018.1	WXS	Illumina GAIIx	Phase_I	Q7Z410	TMPS9_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)	14	2498	+			833			Peptidase S1 3.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2498C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681540	0.47991	.	.	ENSG00000178297	ENST00000332578	D	0.94417	-3.42	4.35	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000023	D	0.96371	0.8816	M	0.67625	2.065	0.34561	D	0.712363	D	0.89917	1.0	D	0.75020	0.985	D	0.99863	1.1086	10	0.56958	D	0.05	.	14.3702	0.66833	0.0:1.0:0.0:0.0	.	833	Q7Z410	TMPS9_HUMAN	V	833	ENSP00000330264:A833V	ENSP00000330264:A833V	A	+	2	0	TMPRSS9	2375138	0.986000	0.35501	0.029000	0.17559	0.005000	0.04900	2.959000	0.49153	1.976000	0.57569	0.561000	0.74099	GCG		0.761	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		3	5	0	0	0	0.150653	0	3	5				
PRG4	10216	broad.mit.edu	37	1	186276959	186276959	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:186276959A>G	ENST00000445192.2	+	7	2153	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	703	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGAGACTGCTCCA	0.592																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2107-2109)gAg>gGg		proteoglycan 4							129.0	145.0	139.0					1																	186276959		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276959A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2108A>G	1.37:g.186276959A>G	ENSP00000399679:p.Glu703Gly		Somatic				PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G	p.E703G	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	Q92954	PRG4_HUMAN			7	2153	+			703			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2108A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.907	0.351387	0.11182	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.42;3.54;3.41;3.54	2.63	-4.85	0.03142	.	0.358279	0.20051	U	0.100294	T	0.04182	0.0116	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27732	0.187;0.187;0.118;0.187	B;B;B;B	0.22386	0.039;0.039;0.017;0.039	T	0.36432	-0.9748	9	.	.	.	.	5.8386	0.18621	0.3724:0.4907:0.0:0.1368	.	569;610;703;662	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	660;569;662;610;703	ENSP00000356456:E660G;ENSP00000356453:E662G;ENSP00000356455:E610G;ENSP00000399679:E703G	.	E	+	2	0	PRG4	184543582	0.039000	0.19947	0.000000	0.03702	0.047000	0.14425	-0.123000	0.10611	-0.335000	0.08451	0.156000	0.16432	GAG		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	138	0	0	0	0.150653	0	4	138				
MUC2	4583	broad.mit.edu	37	11	1097728	1097728	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:1097728C>G	ENST00000441003.2	+	36	6848	c.6821C>G	c.(6820-6822)cCc>cGc	p.P2274R	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4636					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P2274H(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCATTCTGCCCAGCGGGGAG	0.627																																						ENST00000441003.2																			1	Substitution - Missense(1)	p.P2274H(1)	endometrium(1)	NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6820-6822)cCc>cGc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						62.0	67.0	65.0					11																	1097728		2152	4255	6407	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1097728C>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6821C>G	11.37:g.1097728C>G	ENSP00000415183:p.Pro2274Arg		Somatic				MUC2_ENST00000361558.6_3'UTR	p.P2274R	NM_002457.2	NP_002448.2	WXS	Illumina GAIIx	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	36	6848	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4636					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6821C>G		.	.	.	.	.	.	.	.	.	.	C	8.150	0.787204	0.16189	.	.	ENSG00000198788	ENST00000441003	T	0.65732	-0.17	3.9	3.9	0.45041	.	.	.	.	.	T	0.63663	0.2530	L	0.53780	1.695	0.28444	N	0.91664	P	0.46784	0.884	P	0.50490	0.642	T	0.54761	-0.8245	9	0.21540	T	0.41	.	11.1645	0.48535	0.0:0.8132:0.1868:0.0	.	2274	E7EUV1	.	R	2274	ENSP00000415183:P2274R	ENSP00000415183:P2274R	P	+	2	0	MUC2	1087728	0.999000	0.42202	0.123000	0.21794	0.010000	0.07245	4.077000	0.57598	1.978000	0.57642	0.556000	0.70494	CCC		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	37	0	0	0	0.217242	0	6	37				
ZNF319	57567	broad.mit.edu	37	16	58030711	58030711	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:58030711T>G	ENST00000299237.2	-	2	2081	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCTGGGCACTTGAGTGGCTTC	0.637																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1459-1461)Aag>Cag		zinc finger protein 319							48.0	42.0	44.0					16																	58030711		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030711T>G	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1459A>C	16.37:g.58030711T>G	ENSP00000299237:p.Lys487Gln		Somatic					p.K487Q	NM_020807.1	NP_065858.1	WXS	Illumina GAIIx	Phase_I	Q9P2F9	ZN319_HUMAN			2	2081	-			487					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1459A>C	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676650	0.29783	.	.	ENSG00000166188	ENST00000299237	T	0.57752	0.38	5.21	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	N	0.20574	0.59	0.46044	D	0.99883	D	0.89917	1.0	D	0.68483	0.958	T	0.52162	-0.8612	10	0.42905	T	0.14	-22.8032	10.1122	0.42570	0.0:0.0789:0.0:0.9211	.	487	Q9P2F9	ZN319_HUMAN	Q	487	ENSP00000299237:K487Q	ENSP00000299237:K487Q	K	-	1	0	ZNF319	56588212	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	6.280000	0.72626	0.828000	0.34709	-0.250000	0.11733	AAG		0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			7	17	0	0	0	0.248553	0	7	17				
PIKFYVE	200576	broad.mit.edu	37	2	209190731	209190731	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:209190731T>G	ENST00000264380.4	+	20	3354	c.3196T>G	c.(3196-3198)Ttt>Gtt	p.F1066V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1066					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCGAGAACCCTTTCTTTTAAC	0.398																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3196-3198)Ttt>Gtt		phosphoinositide kinase, FYVE finger containing							77.0	82.0	80.0					2																	209190731		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190731T>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3196T>G	2.37:g.209190731T>G	ENSP00000264380:p.Phe1066Val		Somatic					p.F1066V	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			20	3354	+			1066					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3196T>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283924	0.80803	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.35973	1.28;1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.78314	0.968;0.991	T	0.63431	-0.6639	10	0.72032	D	0.01	-16.7321	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1066;1010	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	1066;642;1010	ENSP00000264380:F1066V;ENSP00000405736:F1010V	ENSP00000264380:F1066V	F	+	1	0	PIKFYVE	208898976	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.950000	0.87804	2.371000	0.80710	0.533000	0.62120	TTT		0.398	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	120	0	0	0	0.248553	0	4	120				
SRPK1	6732	broad.mit.edu	37	6	35856615	35856615	+	Silent	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:35856615T>C	ENST00000373825.2	-	4	564	c.279A>G	c.(277-279)acA>acG	p.T93T	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR|SRPK1_ENST00000423325.2_Silent_p.T77T					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATAACCATACTGTTGAAAAGT	0.388																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(277-279)acA>acG		SRSF protein kinase 1							148.0	139.0	142.0					6																	35856615		1875	4104	5979	SO:0001819	synonymous_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35856615T>C	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.279A>G	6.37:g.35856615T>C			Somatic				SRPK1_ENST00000423325.2_Silent_p.T77T|SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR	p.T93T			WXS	Illumina GAIIx	Phase_I	Q96SB4	SRPK1_HUMAN			4	564	-			93			Protein kinase.			Silent	SNP	ENST00000373825.2	37	c.279A>G	CCDS47415.1																																																																																				0.388	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		3	126	0	0	0	0.150653	0	3	126				
SETD2	29072	broad.mit.edu	37	3	47143034	47143034	+	Silent	SNP	G	G	A	rs139879059		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:47143034G>A	ENST00000409792.3	-	8	4971	c.4929C>T	c.(4927-4929)aaC>aaT	p.N1643N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1643	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGTTGTCCGTTCACAGTCC	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		14162	0.0		0.001	False		,,,				2504	0.0					ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4927-4929)aaC>aaT		SET domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	126.0	125.0	125.0		4929	0.8	1.0	3	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	SETD2	NM_014159.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1643/2565	47143034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47143034G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4929C>T	3.37:g.47143034G>A			Somatic					p.N1643N	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	8	4971	-		Acute lymphoblastic leukemia(5;0.0169)	1643			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.4929C>T	CCDS2749.2																																																																																				0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		4	124	0	0	0	0.184627	0	4	124				
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs375280428	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657													G|||	2063	0.411941	0.469	0.4352	5008	,	,		13020	0.3234		0.4453	False		,,,				2504	0.3753					ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(193-195)tgT>tgC		keratin associated protein 4-8							6.0	9.0	8.0					17																	39254142		633	1475	2108	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39254142A>G	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.195T>C	17.37:g.39254142A>G			Somatic					p.C65C	NM_031960.2	NP_114166.1	WXS	Illumina GAIIx	Phase_I	Q9BYQ9	KRA48_HUMAN			1	251	-			65			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Silent	SNP	ENST00000333822.4	37	c.195T>C	CCDS45674.1																																																																																				0.657	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		9	28	0	0	0	0.387290	0	9	28				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C			Somatic					p.L354L	NM_006465.2	NP_006456.1	WXS	Illumina GAIIx	Phase_I	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		3	101	0	0	0	0.248553	0	3	101				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G			Somatic						NR_026903.1		WXS	Illumina GAIIx	Phase_I					0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		4	189	0	0	0	0.150653	0	4	189				
PRSS37	136242	broad.mit.edu	37	7	141536260	141536260	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:141536260C>T	ENST00000350549.3	-	5	1014	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	PRSS37_ENST00000438520.1_Missense_Mutation_p.V215I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TAGATGCCGACGTCCCCTCCC	0.517																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.(643-645)Gtc>Atc		protease, serine, 37							201.0	167.0	178.0					7																	141536260		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536260C>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.643G>A	7.37:g.141536260C>T	ENSP00000297767:p.Val215Ile		Somatic				PRSS37_ENST00000438520.1_Missense_Mutation_p.V215I	p.V215I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	WXS	Illumina GAIIx	Phase_I	A4D1T9	PRS37_HUMAN			5	1014	-			215			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.643G>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.297018	0.23650	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.87729	-2.29;-2.29	5.28	4.33	0.51752	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.124579	0.36665	N	0.002474	T	0.76083	0.3938	N	0.25426	0.745	0.09310	N	0.999999	B;B	0.33807	0.426;0.426	B;B	0.31442	0.09;0.13	T	0.69308	-0.5179	10	0.87932	D	0	.	5.9741	0.19369	0.0:0.7009:0.1956:0.1034	.	214;215	B7ZMK3;A4D1T9	.;PRS37_HUMAN	I	215	ENSP00000297767:V215I;ENSP00000414461:V215I	ENSP00000297767:V215I	V	-	1	0	PRSS37	141182729	0.999000	0.42202	0.563000	0.28383	0.266000	0.26442	3.755000	0.55197	2.761000	0.94854	0.585000	0.79938	GTC		0.517	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		7	92	0	0	0	0.278610	0	7	92				
MROH7	374977	broad.mit.edu	37	1	55119457	55119457	+	Silent	SNP	T	T	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:55119457T>A	ENST00000421030.2	+	3	1143	c.858T>A	c.(856-858)tcT>tcA	p.S286S	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Silent_p.S286S|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.S286S|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7-TTC4_ENST00000414150.2_Silent_p.S286S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	286	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACTCCAGATCTGATTTGAGCG	0.502																																						ENST00000414150.2																			0											c.(856-858)tcT>tcA		maestro heat-like repeat family member 7							75.0	75.0	75.0					1																	55119457		2065	4210	6275	SO:0001819	synonymous_variant	374977							g.chr1:55119457T>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.858T>A	1.37:g.55119457T>A			Somatic				MROH7_ENST00000421030.2_Silent_p.S286S|MROH7_ENST00000395690.2_Silent_p.S286S|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.S286S|MROH7_ENST00000545244.1_Intron	p.S286S			WXS	Illumina GAIIx	Phase_I					3	1136	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.858T>A	CCDS41342.2																																																																																				0.502	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		15	50	0	0	0	0.500413	0	15	50				
GABRA2	2555	broad.mit.edu	37	4	46314597	46314597	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:46314597C>A	ENST00000510861.1	-	5	565	c.392G>T	c.(391-393)gGg>gTg	p.G131V	GABRA2_ENST00000356504.1_Missense_Mutation_p.G131V|GABRA2_ENST00000381620.4_Missense_Mutation_p.G131V|GABRA2_ENST00000515082.1_Missense_Mutation_p.G131V|GABRA2_ENST00000514090.1_Missense_Mutation_p.G131V|GABRA2_ENST00000540012.1_Missense_Mutation_p.G76V|GABRA2_ENST00000507069.1_Missense_Mutation_p.G131V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	131					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGATTTTTTCCCATTGTGAAA	0.343																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(391-393)gGg>gTg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	113.0	112.0					4																	46314597		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314597C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.392G>T	4.37:g.46314597C>A	ENSP00000421828:p.Gly131Val		Somatic				GABRA2_ENST00000540012.1_Missense_Mutation_p.G76V|GABRA2_ENST00000356504.1_Missense_Mutation_p.G131V|GABRA2_ENST00000381620.4_Missense_Mutation_p.G131V|GABRA2_ENST00000514090.1_Missense_Mutation_p.G131V|GABRA2_ENST00000507069.1_Missense_Mutation_p.G131V|GABRA2_ENST00000515082.1_Missense_Mutation_p.G131V	p.G131V			WXS	Illumina GAIIx	Phase_I	P47869	GBRA2_HUMAN			5	565	-			131					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.392G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951829	0.92660	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.050554	0.85682	D	0.000000	D	0.88187	0.6369	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88171	0.2864	10	0.72032	D	0.01	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	76;131;131	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	V	131;131;131;131;76;131;131;131;131	ENSP00000421828:G131V;ENSP00000421300:G131V;ENSP00000371033:G131V;ENSP00000348897:G131V;ENSP00000444409:G76V;ENSP00000427603:G131V;ENSP00000423840:G131V;ENSP00000424362:G131V;ENSP00000424093:G131V	ENSP00000348897:G131V	G	-	2	0	GABRA2	46009354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	GGG		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			11	127	1	0	3.86212e-05	0.361761	4.12979e-05	11	127				
BSN	8927	broad.mit.edu	37	3	49699740	49699740	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:49699740A>G	ENST00000296452.4	+	6	10576	c.10462A>G	c.(10462-10464)Atg>Gtg	p.M3488V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3488					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCCCTAAGTATGGCCCACAG	0.667																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10462-10464)Atg>Gtg		bassoon presynaptic cytomatrix protein							36.0	40.0	38.0					3																	49699740		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699740A>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10462A>G	3.37:g.49699740A>G	ENSP00000296452:p.Met3488Val		Somatic					p.M3488V	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10576	+			3488					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10462A>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446164	0.25987	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.81	5.81	0.92471	.	0.067697	0.64402	D	0.000016	T	0.17450	0.0419	L	0.47716	1.5	0.40891	D	0.984073	B	0.31485	0.325	B	0.25405	0.06	T	0.02184	-1.1199	10	0.41790	T	0.15	-10.6899	16.1519	0.81629	1.0:0.0:0.0:0.0	.	3488	Q9UPA5	BSN_HUMAN	V	3488	ENSP00000296452:M3488V	ENSP00000296452:M3488V	M	+	1	0	BSN	49674744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.858000	0.75461	2.216000	0.71823	0.533000	0.62120	ATG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		15	25	0	0	0	0.479597	0	15	25				
IGSF10	285313	broad.mit.edu	37	3	151171562	151171562	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:151171562C>T	ENST00000282466.3	-	3	324	c.325G>A	c.(325-327)Gtc>Atc	p.V109I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTTTAAGACCTATGAATTA	0.308																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.e3-1		immunoglobulin superfamily, member 10							59.0	64.0	62.0					3																	151171562		2058	4249	6307	SO:0001630	splice_region_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171562C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.325-1G>A	3.37:g.151171562C>T			Somatic					p.V109_splice	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	324	-			109					Q86YJ9|Q8N772|Q8NA84	Splice_Site	SNP	ENST00000282466.3	37	c.324_splice	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076701	0.76415	.	.	ENSG00000152580	ENST00000282466	T	0.57595	0.39	5.53	5.53	0.82687	.	0.000000	0.43260	D	0.000598	T	0.56247	0.1972	L	0.28649	0.875	0.47547	D	0.99945	D	0.61080	0.989	P	0.60345	0.873	T	0.52358	-0.8586	10	0.34782	T	0.22	.	13.7313	0.62789	0.0:0.9267:0.0:0.0733	.	109	Q6WRI0	IGS10_HUMAN	I	109	ENSP00000282466:V109I	ENSP00000282466:V109I	V	-	1	0	IGSF10	152654252	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.670000	0.61583	2.602000	0.87976	0.650000	0.86243	GTC		0.308	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	Missense_Mutation	12	117	0	0	0	0.387290	0	12	117				
C12orf50	160419	broad.mit.edu	37	12	88390202	88390202	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:88390202C>G	ENST00000298699.2	-	6	610	c.430G>C	c.(430-432)Gca>Cca	p.A144P	C12orf50_ENST00000550553.1_Missense_Mutation_p.A144P	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	144										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTTTTTCTGCTGTAGGTGTC	0.338																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(430-432)Gca>Cca		chromosome 12 open reading frame 50							161.0	154.0	156.0					12																	88390202		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88390202C>G	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.430G>C	12.37:g.88390202C>G	ENSP00000298699:p.Ala144Pro		Somatic				C12orf50_ENST00000550553.1_Missense_Mutation_p.A144P	p.A144P	NM_152589.1	NP_689802.1	WXS	Illumina GAIIx	Phase_I	Q8NA57	CL050_HUMAN			6	610	-			144					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.430G>C	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	6.213	0.407410	0.11754	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.30981	1.52;1.51	5.33	3.44	0.39384	.	0.872749	0.09793	N	0.755184	T	0.28001	0.0690	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.26815	-1.0092	10	0.26408	T	0.33	.	8.9897	0.36017	0.158:0.5359:0.3061:0.0	.	198;144	G3V208;Q8NA57	.;CL050_HUMAN	P	144;144;198	ENSP00000298699:A144P;ENSP00000448344:A144P	ENSP00000298699:A144P	A	-	1	0	C12orf50	86914333	0.019000	0.18553	0.013000	0.15412	0.653000	0.38743	0.608000	0.24223	0.568000	0.29311	-0.311000	0.09066	GCA		0.338	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		5	110	0	0	0	0.248553	0	5	110				
CFTR	1080	broad.mit.edu	37	7	117254766	117254766	+	Splice_Site	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:117254766T>G	ENST00000003084.6	+	21	3599	c.3467T>G	c.(3466-3468)tTg>tGg	p.L1156W	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Splice_Site_p.L1095W	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1156					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTGGATAGCTTGGTAAGTCTT	0.358									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.e21+1		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						143.0	130.0	134.0					7																	117254766		2203	4300	6503	SO:0001630	splice_region_variant	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117254766T>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3468+1T>G	7.37:g.117254766T>G			Somatic				AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Splice_Site_p.L1095_splice	p.L1156_splice	NM_000492.3	NP_000483.3	WXS	Illumina GAIIx	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		21	3599	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1156					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	c.3468_splice	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.768001|4.768001	0.90020|0.90020	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.94723|.	-3.5;-3.5;-3.5|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ABC transporter, transmembrane domain, type 1 (1);|.	0.064020|.	0.64402|.	D|.	0.000004|.	T|.	0.73513|.	0.3596|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70935|.	0.971|.	T|.	0.72747|.	-0.4200|.	10|.	0.66056|.	D|.	0.02|.	-15.58|-15.58	16.3232|16.3232	0.82961|0.82961	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1156|.	P13569|.	CFTR_HUMAN|.	W|G	1156;1095;1126|98	ENSP00000003084:L1156W;ENSP00000403677:L1095W;ENSP00000389119:L1126W|.	ENSP00000003084:L1156W|.	L|X	+|+	2|1	0|0	CFTR|CFTR	117042002|117042002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.860000|7.860000	0.86993|0.86993	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	TTG|TGA		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Missense_Mutation	29	96	0	0	0	0.740014	0	29	96				
ALS2CR11	151254	broad.mit.edu	37	2	202438995	202438995	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:202438995G>T	ENST00000286195.3	-	7	734	c.690C>A	c.(688-690)gtC>gtA	p.V230V	ALS2CR11_ENST00000439140.1_Silent_p.V230V|ALS2CR11_ENST00000439802.1_Silent_p.V230V|ALS2CR11_ENST00000450242.1_Silent_p.V230V	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	230										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCAGCCTGCAGACAAACTAAA	0.318																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(688-690)gtC>gtA		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							75.0	75.0	75.0					2																	202438995		2203	4300	6503	SO:0001819	synonymous_variant	151254							g.chr2:202438995G>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.690C>A	2.37:g.202438995G>T			Somatic				ALS2CR11_ENST00000450242.1_Silent_p.V230V|ALS2CR11_ENST00000439802.1_Silent_p.V230V|ALS2CR11_ENST00000286195.3_Silent_p.V230V	p.V230V	NM_001168221.1	NP_001161693.1	WXS	Illumina GAIIx	Phase_I	Q53TS8	AL2SA_HUMAN			7	734	-			230					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.690C>A	CCDS2349.1																																																																																				0.318	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		11	59	1	0	1.08611e-07	0.387290	1.24787e-07	11	59				
NXPH1	30010	broad.mit.edu	37	7	8790743	8790743	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:8790743T>C	ENST00000405863.1	+	3	1071	c.160T>C	c.(160-162)Tct>Cct	p.S54P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	54	II.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAAAGACTTGTCTATCAGCCG	0.438																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(160-162)Tct>Cct		neurexophilin 1							74.0	73.0	73.0					7																	8790743		1975	4173	6148	SO:0001583	missense	30010					extracellular region		g.chr7:8790743T>C	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.160T>C	7.37:g.8790743T>C	ENSP00000384551:p.Ser54Pro		Somatic				NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	p.S54P	NM_152745.2	NP_689958.1	WXS	Illumina GAIIx	Phase_I	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1071	+		Ovarian(82;0.0628)	54			II.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.160T>C	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744211	0.49151	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.61618	-0.7026	9	0.27082	T	0.32	-14.3302	16.6407	0.85098	0.0:0.0:0.0:1.0	.	54	P58417	NXPH1_HUMAN	P	54	.	ENSP00000384551:S54P	S	+	1	0	NXPH1	8757268	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	7.671000	0.83941	2.326000	0.78906	0.533000	0.62120	TCT		0.438	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		8	82	0	0	0	0.278610	0	8	82				
NUP160	23279	broad.mit.edu	37	11	47819982	47819982	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:47819982C>T	ENST00000378460.2	-	24	2975	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	NUP160_ENST00000530326.1_Missense_Mutation_p.E863K|NUP160_ENST00000528071.1_Missense_Mutation_p.E863K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	977					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATAACCAGTTCAGGCAAACCA	0.348																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(2929-2931)Gaa>Aaa		nucleoporin 160kDa							111.0	108.0	109.0					11																	47819982		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47819982C>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2929G>A	11.37:g.47819982C>T	ENSP00000367721:p.Glu977Lys		Somatic				NUP160_ENST00000530326.1_Missense_Mutation_p.E863K|NUP160_ENST00000528071.1_Missense_Mutation_p.E863K	p.E977K	NM_015231.1	NP_056046.1	WXS	Illumina GAIIx	Phase_I	Q12769	NU160_HUMAN			24	2975	-			977					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2929G>A	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241171	0.95272	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.50548	1.29;0.74;0.74	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.60301	-0.7290	10	0.27785	T	0.31	.	18.1721	0.89749	0.0:1.0:0.0:0.0	.	977	Q12769	NU160_HUMAN	K	977;863;863	ENSP00000367721:E977K;ENSP00000433590:E863K;ENSP00000432367:E863K	ENSP00000367721:E977K	E	-	1	0	NUP160	47776558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.547000	0.85894	0.655000	0.94253	GAA		0.348	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		22	147	0	0	0	0.608945	0	22	147				
PTPN14	5784	broad.mit.edu	37	1	214557324	214557324	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:214557324C>A	ENST00000366956.5	-	13	2068	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	625					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGGGGCTCGCTCACCTCCTG	0.637																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1873-1875)aGc>aTc		protein tyrosine phosphatase, non-receptor type 14							44.0	41.0	42.0					1																	214557324		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557324C>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1874G>T	1.37:g.214557324C>A	ENSP00000355923:p.Ser625Ile		Somatic				PTPN14_ENST00000543945.1_3'UTR	p.S625I	NM_005401.4	NP_005392.2	WXS	Illumina GAIIx	Phase_I	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2068	-			625					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1874G>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997500	0.74818	.	.	ENSG00000152104	ENST00000366956	T	0.74106	-0.81	5.66	5.66	0.87406	.	0.040960	0.85682	D	0.000000	D	0.86748	0.6007	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.87474	0.2416	10	0.87932	D	0	.	19.7425	0.96238	0.0:1.0:0.0:0.0	.	625	Q15678	PTN14_HUMAN	I	625	ENSP00000355923:S625I	ENSP00000355923:S625I	S	-	2	0	PTPN14	212623947	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.622000	0.61240	2.676000	0.91093	0.557000	0.71058	AGC		0.637	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		8	41	1	0	0.000157383	0.278610	0.000166641	8	41				
SLC7A3	84889	broad.mit.edu	37	X	70147194	70147194	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:70147194G>A	ENST00000374299.3	-	8	1368	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	SLC7A3_ENST00000298085.4_Silent_p.D408D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	408					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGACATGAGGTCCACAAGAT	0.423																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1222-1224)gaC>gaT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						141.0	113.0	123.0					X																	70147194		2203	4300	6503	SO:0001819	synonymous_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147194G>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1224C>T	X.37:g.70147194G>A			Somatic				SLC7A3_ENST00000298085.4_Silent_p.D408D	p.D408D			WXS	Illumina GAIIx	Phase_I	Q8WY07	CTR3_HUMAN			8	1368	-	Renal(35;0.156)		408					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	c.1224C>T	CCDS14404.1																																																																																				0.423	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		3	7	0	0	0	0.115264	0	3	7				
MAP3K3	4215	broad.mit.edu	37	17	61767721	61767721	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:61767721A>C	ENST00000361733.3	+	12	1481	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	MAP3K3_ENST00000577395.1_Missense_Mutation_p.E383D|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E414D|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E418D|MAP3K3_ENST00000361357.3_Missense_Mutation_p.E418D	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGACGTGAACTTGCTTCCA	0.542																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1252-1254)gaA>gaC		mitogen-activated protein kinase kinase kinase 3							106.0	88.0	94.0					17																	61767721		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61767721A>C	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1161A>C	17.37:g.61767721A>C	ENSP00000354485:p.Glu387Asp		Somatic				MAP3K3_ENST00000577395.1_Missense_Mutation_p.E383D|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E387D|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E418D|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E414D	p.E418D	NM_203351.1	NP_976226.1	WXS	Illumina GAIIx	Phase_I	Q99759	M3K3_HUMAN			13	1572	+			387			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1254A>C	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435683	0.83885	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66280	-0.2;-0.2	5.23	3.0	0.34707	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.26042	0.785	0.58432	D	0.999997	D;D;P;P	0.54601	0.967;0.967;0.885;0.863	P;P;P;P	0.61132	0.838;0.884;0.803;0.703	T	0.62553	-0.6830	10	0.72032	D	0.01	.	8.4844	0.33063	0.7733:0.0:0.2267:0.0	.	383;355;387;418	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	D	418;387	ENSP00000354927:E418D;ENSP00000354485:E387D	ENSP00000354927:E418D	E	+	3	2	MAP3K3	59121453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.756000	0.26419	0.934000	0.37316	0.459000	0.35465	GAA		0.542	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		5	75	0	0	0	0.184627	0	5	75				
SLC22A20	440044	broad.mit.edu	37	11	64991021	64991021	+	RNA	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64991021G>A	ENST00000525437.1	+	0	1051							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGCCATCCGCAAGGTCACA	0.532																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															76.0	79.0	78.0					11																	64991021		1961	4158	6119			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64991021G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64991021G>A			Somatic								WXS	Illumina GAIIx	Phase_I	A6NK97	S22AK_HUMAN			0	1051	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.532	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		3	52	0	0	0	0.115264	0	3	52				
CYP11B1	1584	broad.mit.edu	37	8	143960507	143960507	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:143960507G>A	ENST00000292427.4	-	2	368	c.336C>T	c.(334-336)agC>agT	p.S112S	CYP11B1_ENST00000517471.1_Silent_p.S112S|CYP11B1_ENST00000377675.3_Silent_p.S157S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	112					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGGCTCCAGGCTCATCCTGT	0.612									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(334-336)agC>agT		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						198.0	144.0	162.0					8																	143960507		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960507G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.336C>T	8.37:g.143960507G>A			Somatic				CYP11B1_ENST00000517471.1_Silent_p.S112S|CYP11B1_ENST00000377675.3_Silent_p.S157S	p.S112S	NM_000497.3	NP_000488.3	WXS	Illumina GAIIx	Phase_I	P15538	C11B1_HUMAN			2	368	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		112					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.336C>T	CCDS6392.1																																																																																				0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			25	46	0	0	0	0.717897	0	25	46				
SH2D1B	117157	broad.mit.edu	37	1	162381707	162381707	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:162381707C>T	ENST00000367929.2	-	1	209	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SH2D1B_ENST00000359567.3_Missense_Mutation_p.E34K|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	34	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGTATCGACTCGCTGTCTCTT	0.507																																						ENST00000367929.2																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(100-102)Gag>Aag		SH2 domain containing 1B							156.0	131.0	140.0					1																	162381707		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381707C>T	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.100G>A	1.37:g.162381707C>T	ENSP00000356906:p.Glu34Lys		Somatic				SH2D1B_ENST00000359567.3_Missense_Mutation_p.E34K|SH2D1B_ENST00000493550.1_5'UTR	p.E34K	NM_053282.4	NP_444512.2	WXS	Illumina GAIIx	Phase_I	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	209	-	all_hematologic(112;0.115)		34			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.100G>A	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071471	0.93950	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.89875	-2.58;-2.58	5.36	5.36	0.76844	SH2 motif (5);	0.066350	0.64402	D	0.000019	D	0.93822	0.8024	M	0.82823	2.61	0.27932	N	0.937843	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.94323	0.7555	9	0.87932	D	0	-31.5474	14.461	0.67450	0.0:1.0:0.0:0.0	.	34;34	O14796-2;O14796	.;SH21B_HUMAN	K	34	ENSP00000356906:E34K;ENSP00000352571:E34K	ENSP00000352571:E34K	E	-	1	0	SH2D1B	160648331	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.398000	0.52579	2.763000	0.94921	0.655000	0.94253	GAG		0.507	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		7	64	0	0	0	0.248553	0	7	64				
TACC3	10460	broad.mit.edu	37	4	1729915	1729915	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:1729915A>G	ENST00000313288.4	+	4	892	c.786A>G	c.(784-786)ggA>ggG	p.G262G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	262					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCTGCGGAGGAGCACCCCTGC	0.682																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(784-786)ggA>ggG		transforming, acidic coiled-coil containing protein 3							13.0	14.0	13.0					4																	1729915		2192	4269	6461	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729915A>G	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.786A>G	4.37:g.1729915A>G			Somatic					p.G262G	NM_006342.2	NP_006333.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	892	+		Breast(71;0.212)|all_epithelial(65;0.241)	262					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.786A>G	CCDS3352.1																																																																																				0.682	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			5	16	0	0	0	0.184627	0	5	16				
COL1A2	1278	broad.mit.edu	37	7	94051239	94051239	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:94051239G>A	ENST00000297268.6	+	39	2849	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	793			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTGCTGGACGGACTGGT	0.458										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2377-2379)gGa>gAa		collagen, type I, alpha 2	Collagenase(DB00048)						134.0	114.0	121.0					7																	94051239		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94051239G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2378G>A	7.37:g.94051239G>A	ENSP00000297268:p.Gly793Glu	HNSCC(75;0.22)	Somatic					p.G793E	NM_000089.3	NP_000080.2	WXS	Illumina GAIIx	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		39	2849	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		793		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2378G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116052	0.94339	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96992	-4.2	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99201	1.0873	10	0.87932	D	0	.	19.2941	0.94115	0.0:0.0:1.0:0.0	.	793	P08123	CO1A2_HUMAN	E	793;794	ENSP00000297268:G793E	ENSP00000297268:G793E	G	+	2	0	COL1A2	93889175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.746000	0.94184	0.655000	0.94253	GGA		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		18	62	0	0	0	0.557998	0	18	62				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			3	78	0	0	0	0.150653	0	3	78				
TBK1	29110	broad.mit.edu	37	12	64889519	64889519	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:64889519A>C	ENST00000331710.5	+	15	2023	c.1684A>C	c.(1684-1686)Att>Ctt	p.I562L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	562					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CATGACAGAGATTTACTATCA	0.264																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1684-1686)Att>Ctt		TANK-binding kinase 1							34.0	34.0	34.0					12																	64889519		2199	4298	6497	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64889519A>C	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1684A>C	12.37:g.64889519A>C	ENSP00000329967:p.Ile562Leu		Somatic					p.I562L	NM_013254.3	NP_037386.1	WXS	Illumina GAIIx	Phase_I	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	15	2023	+			562					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1684A>C	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155132	0.78114	.	.	ENSG00000183735	ENST00000331710	T	0.19105	2.17	4.77	4.77	0.60923	.	0.049649	0.85682	D	0.000000	T	0.31071	0.0785	L	0.32530	0.975	0.54753	D	0.999987	P	0.48016	0.904	P	0.58873	0.847	T	0.01819	-1.1267	9	.	.	.	-13.2708	14.9944	0.71418	1.0:0.0:0.0:0.0	.	562	Q9UHD2	TBK1_HUMAN	L	562	ENSP00000329967:I562L	.	I	+	1	0	TBK1	63175786	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.808000	0.86044	2.087000	0.62958	0.533000	0.62120	ATT		0.264	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		9	32	0	0	0	0.307466	0	9	32				
LRRC37A6P	387646	broad.mit.edu	37	10	27537016	27537016	+	lincRNA	SNP	G	G	T	rs181296646		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:27537016G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TAGATTTACCGCTGAGAAATA	0.393																																						ENST00000574842.1																			0																																																			387646							g.chr10:27537016G>T																													10.37:g.27537016G>T			Somatic				LRRC37A6P_ENST00000284414.4_RNA				WXS	Illumina GAIIx	Phase_I					0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.393	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			16	86	1	0	1.3612e-06	0.479597	1.5001e-06	16	86				
NAALADL1	10004	broad.mit.edu	37	11	64813784	64813784	+	Missense_Mutation	SNP	G	G	A	rs201741811		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64813784G>A	ENST00000358658.3	-	15	1759	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R543W|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R537W|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R629W|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P520L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	578	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCACTGAGCCGGAGAATCACA	0.612																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1732-1734)Cgg>Tgg		N-acetylated alpha-linked acidic dipeptidase-like 1		G	TRP/ARG	0,4402		0,0,2201	67.0	58.0	61.0		1732	4.2	0.8	11		61	5,8589	4.3+/-15.6	0,5,4292	yes	missense	NAALADL1	NM_005468.2	101	0,5,6493	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging	578/741	64813784	5,12991	2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64813784G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1732C>T	11.37:g.64813784G>A	ENSP00000351484:p.Arg578Trp		Somatic				NAALADL1_ENST00000340252.4_Missense_Mutation_p.R629W|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P520L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R537W|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R543W	p.R578W	NM_005468.2	NP_005459.2	WXS	Illumina GAIIx	Phase_I	Q9UQQ1	NALDL_HUMAN			15	1759	-			578			NAALADase.		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1732C>T	CCDS31604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.158362|3.158362	0.57368|0.57368	0.0|0.0	5.82E-4|5.82E-4	ENSG00000168060|ENSG00000168060	ENST00000355369|ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632;ENST00000530139	T|T;T;T;T;T	0.46063|0.43294	0.88|0.95;0.95;0.95;0.95;0.95	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67230|0.67230	0.2871|0.2871	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.63703	.|0.917	T|T	0.75082|0.75082	-0.3443|-0.3443	7|10	0.87932|0.87932	D|D	0|0	-35.9351|-35.9351	12.8155|12.8155	0.57663|0.57663	0.0:0.0:0.8252:0.1748|0.0:0.0:0.8252:0.1748	.|.	.|578	.|Q9UQQ1	.|NALDL_HUMAN	L|W	520|578;578;629;537;543;54	ENSP00000347530:P520L|ENSP00000351484:R578W;ENSP00000344244:R629W;ENSP00000347955:R537W;ENSP00000349045:R543W;ENSP00000434233:R54W	ENSP00000347530:P520L|ENSP00000344244:R629W	P|R	-|-	2|1	0|2	NAALADL1|NAALADL1	64570360|64570360	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.707000|0.707000	0.40811|0.40811	5.217000|5.217000	0.65252|0.65252	1.267000|1.267000	0.44247|0.44247	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		3	48	0	0	0	0.150653	0	3	48				
SSPO	23145	broad.mit.edu	37	7	149497464	149497464	+	RNA	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:149497464C>T	ENST00000378016.2	+	0	7222							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACAGGCGCAGGTGTGTGA	0.692																																						ENST00000378016.2																			0													SCO-spondin							24.0	32.0	30.0					7																	149497464		2173	4258	6431			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497464C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497464C>T			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7222	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	25	0	0	0	0.387290	0	10	25				
ATP9A	10079	broad.mit.edu	37	20	50329572	50329572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:50329572C>T	ENST00000338821.5	-	4	633	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ATP9A_ENST00000402822.1_Silent_p.E123E|ATP9A_ENST00000311637.5_Silent_p.E108E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	123					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCGGATCTCCTCCACCGCCT	0.622																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(367-369)gaG>gaA		ATPase, class II, type 9A							102.0	70.0	81.0					20																	50329572		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50329572C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.369G>A	20.37:g.50329572C>T			Somatic				ATP9A_ENST00000311637.5_Silent_p.E108E|ATP9A_ENST00000402822.1_Silent_p.E123E	p.E123E	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			4	633	-			123					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.369G>A	CCDS33489.1																																																																																				0.622	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		9	30	0	0	0	0.361761	0	9	30				
ZNF451	26036	broad.mit.edu	37	6	57013119	57013119	+	Silent	SNP	C	C	T	rs200039225		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:57013119C>T	ENST00000370706.4	+	10	2480	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L746L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L746L|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCAAATCATGCTGGATAAAGG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21263	0.001		0.0	False		,,,				2504	0.0					ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2236-2238)Ctg>Ttg		zinc finger protein 451							57.0	54.0	55.0					6																	57013119		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013119C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2236C>T	6.37:g.57013119C>T			Somatic				RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L746L|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L746L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	p.L746L	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2480	+	Lung NSC(77;0.145)		746					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.2236C>T	CCDS43477.1																																																																																				0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		3	46	0	0	0	0.115264	0	3	46				
CCDC88A	55704	broad.mit.edu	37	2	55561665	55561665	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:55561665T>G	ENST00000436346.1	-	15	3133	c.2292A>C	c.(2290-2292)gaA>gaC	p.E764D	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E764D|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E764D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E764D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	764					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTTTGATTTTCTATATCTA	0.348																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2290-2292)gaA>gaC		coiled-coil domain containing 88A							90.0	91.0	90.0					2																	55561665		2201	4298	6499	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561665T>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2292A>C	2.37:g.55561665T>G	ENSP00000410608:p.Glu764Asp		Somatic				CCDC88A_ENST00000336838.6_Missense_Mutation_p.E764D|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E764D|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E764D	p.E764D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina GAIIx	Phase_I	Q3V6T2	GRDN_HUMAN			15	3133	-			764					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2292A>C		.	.	.	.	.	.	.	.	.	.	T	15.00	2.701954	0.48307	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.20598	2.06;2.31;2.26;2.07	5.04	1.36	0.22044	.	0.000000	0.49305	U	0.000146	T	0.38558	0.1045	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;0.997;0.998	D;D;D;D;D	0.77557	0.984;0.987;0.99;0.942;0.913	T	0.04203	-1.0969	10	0.39692	T	0.17	-18.2446	8.198	0.31409	0.0:0.2952:0.0:0.7048	.	764;764;764;764;764	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	D	764	ENSP00000338728:E764D;ENSP00000263630:E764D;ENSP00000410608:E764D;ENSP00000404431:E764D	ENSP00000263630:E764D	E	-	3	2	CCDC88A	55415169	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.304000	0.43655	0.064000	0.16427	0.374000	0.22700	GAA		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		17	107	0	0	0	0.520397	0	17	107				
HERC2P3	283755	broad.mit.edu	37	15	20588474	20588474	+	RNA	SNP	C	C	T	rs111409649	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:20588474C>T	ENST00000428453.1	-	0	4276							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCAGTGTCCCCAGGACAC	0.483													C|||	432	0.086262	0.1248	0.1066	5008	,	,		36898	0.0		0.1143	False		,,,				2504	0.0798					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														283755							g.chr15:20588474C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588474C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	4276	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.483	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		8	25	0	0	0	0.278610	0	8	25				
RXFP3	51289	broad.mit.edu	37	5	33937155	33937155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:33937155T>C	ENST00000330120.3	+	1	665	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	104					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCTGGTTCTCTACCTGATGAA	0.612																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(310-312)Tac>Cac		relaxin/insulin-like family peptide receptor 3							84.0	83.0	83.0					5																	33937155		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937155T>C	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.310T>C	5.37:g.33937155T>C	ENSP00000328708:p.Tyr104His		Somatic					p.Y104H	NM_016568.3	NP_057652.1	WXS	Illumina GAIIx	Phase_I	Q9NSD7	RL3R1_HUMAN			1	665	+			104					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.310T>C	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375632	0.82682	.	.	ENSG00000182631	ENST00000330120	T	0.19669	2.13	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.059943	0.64402	D	0.000002	T	0.46112	0.1376	M	0.72894	2.215	0.48236	D	0.999612	D	0.71674	0.998	D	0.74674	0.984	T	0.42447	-0.9451	10	0.54805	T	0.06	-20.9382	15.7716	0.78173	0.0:0.0:0.0:1.0	.	104	Q9NSD7	RL3R1_HUMAN	H	104	ENSP00000328708:Y104H	ENSP00000328708:Y104H	Y	+	1	0	RXFP3	33972912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.185000	0.72013	2.184000	0.69523	0.533000	0.62120	TAC		0.612	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		10	73	0	0	0	0.361761	0	10	73				
CLDN15	24146	broad.mit.edu	37	7	100875889	100875889	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:100875889C>T	ENST00000401528.1	-	5	1702	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	CLDN15_ENST00000308344.5_Missense_Mutation_p.A193T|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	193					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTCACCTGGCGGCTGGGTCC	0.751																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(577-579)Gcc>Acc		claudin 15							7.0	9.0	8.0					7																	100875889		2124	4119	6243	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100875889C>T	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.577G>A	7.37:g.100875889C>T	ENSP00000385300:p.Ala193Thr		Somatic				CLDN15_ENST00000308344.5_Missense_Mutation_p.A193T	p.A193T	NM_001185080.1	NP_001172009.1	WXS	Illumina GAIIx	Phase_I	P56746	CLD15_HUMAN			5	1702	-	Lung NSC(181;0.168)|all_lung(186;0.215)		193					B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.577G>A	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585598	0.66105	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;T;T	0.85013	-1.93;-1.93;0.55;0.23	3.9	-7.81	0.01210	.	3.657200	0.00993	N	0.003553	T	0.65512	0.2698	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62397	-0.6863	10	0.10377	T	0.69	.	7.4727	0.27357	0.0:0.1466:0.2125:0.6409	.	193	P56746	CLD15_HUMAN	T	193;193;138;170	ENSP00000308870:A193T;ENSP00000385300:A193T;ENSP00000398418:A138T;ENSP00000390230:A170T	ENSP00000308870:A193T	A	-	1	0	CLDN15	100662609	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	-1.992000	0.01476	-2.280000	0.00675	0.511000	0.50034	GCC		0.751	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		4	6	0	0	0	0.150653	0	4	6				
MRC1	4360	broad.mit.edu	37	10	17865198	17865198	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:17865198G>A	ENST00000331429.2	+	2	290	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	MRC1L1_ENST00000457317.1_Missense_Mutation_p.E63K																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGGGTGTCCGAATCTCAGAT	0.488																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(187-189)Gaa>Aaa									49.0	54.0	52.0					10																	17865198		2009	3903	5912	SO:0001583	missense	4360							g.chr10:17865198G>A																												ENST00000331429.2:c.187G>A	10.37:g.17865198G>A	ENSP00000332124:p.Glu63Lys		Somatic				MRC1L1_ENST00000457317.1_Missense_Mutation_p.E63K	p.E63K			WXS	Illumina GAIIx	Phase_I					2	290	+									Missense_Mutation	SNP	ENST00000331429.2	37	c.187G>A		.	.	.	.	.	.	.	.	.	.	G	6.185	0.402261	0.11696	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.26518	1.73;1.73	4.17	2.04	0.26737	.	1.279330	0.05641	N	0.583436	T	0.08492	0.0211	.	.	.	0.28295	N	0.9233979999999999	P	0.46142	0.873	B	0.28784	0.094	T	0.11084	-1.0602	8	0.11182	T	0.66	-2.0288	2.71	0.05173	0.1497:0.1652:0.5166:0.1685	.	63	B9EJA8	.	K	63	ENSP00000332124:E63K;ENSP00000391843:E63K	ENSP00000332124:E63K	E	+	1	0	AL928580.1	17905204	0.071000	0.21146	0.049000	0.19019	0.666000	0.39218	1.879000	0.39618	0.930000	0.37217	0.552000	0.68991	GAA		0.488	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			23	73	0	0	0	0.769981	0	23	73				
VHL	7428	broad.mit.edu	37	3	10183787	10183787	+	Missense_Mutation	SNP	C	C	A	rs398123481		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:10183787C>A	ENST00000256474.2	+	1	1096	c.256C>A	c.(256-258)Ccc>Acc	p.P86T	VHL_ENST00000345392.2_Missense_Mutation_p.P86T|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	86			P -> A (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> H (in VHLD).|P -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> R (in VHLD; type I). {ECO:0000269|PubMed:9829911}.|P -> S (in VHLD). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P86S(5)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.P86A(1)|p.V87fs*72(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.P86T(1)|p.L85fs*46(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGTCGTGCTGCCCGTATGGCT	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		18	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.P86S(5)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.P86A(1)|p.V87fs*72(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.P86T(1)|p.L85fs*46(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)	kidney(17)|soft_tissue(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM951276|CM952019	VHL	M		c.(256-258)Ccc>Acc		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							13.0	16.0	15.0					3																	10183787		2149	4208	6357	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183787C>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.256C>A	3.37:g.10183787C>A	ENSP00000256474:p.Pro86Thr		Somatic				VHL_ENST00000345392.2_Missense_Mutation_p.P86T	p.P86T	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1096	+			86		P -> A (in VHLD; type I).|P -> H (in VHLD).|P -> L (in VHLD; type I).|P -> R (in VHLD; type I).|P -> S (in VHLD).			B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.256C>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014252	0.93404	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99840	-7.08;-7.08	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	M	0.62723	1.935	0.41266	D	0.986811	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98737	1.0715	10	0.29301	T	0.29	-10.9244	16.8166	0.85735	0.0:1.0:0.0:0.0	.	86;86	P40337-2;P40337	.;VHL_HUMAN	T	86	ENSP00000256474:P86T;ENSP00000344757:P86T	ENSP00000256474:P86T	P	+	1	0	VHL	10158787	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	4.782000	0.62396	2.558000	0.86282	0.550000	0.68814	CCC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		5	11	1	0	0.184627	0.184627	0.189902	5	11				
CREB5	9586	broad.mit.edu	37	7	28848987	28848987	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:28848987G>C	ENST00000357727.2	+	9	1600	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	CREB5_ENST00000396300.2_Missense_Mutation_p.E397Q|CREB5_ENST00000396299.2_Missense_Mutation_p.E371Q|CREB5_ENST00000409603.1_Missense_Mutation_p.E371Q|CREB5_ENST00000396298.2_Missense_Mutation_p.E265Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	404	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATGTCATTGGAAAAGAAAGC	0.577																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(1210-1212)Gaa>Caa		cAMP responsive element binding protein 5							44.0	49.0	48.0					7																	28848987		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848987G>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1210G>C	7.37:g.28848987G>C	ENSP00000350359:p.Glu404Gln		Somatic				CREB5_ENST00000396298.2_Missense_Mutation_p.E265Q|CREB5_ENST00000396299.2_Missense_Mutation_p.E371Q|CREB5_ENST00000396300.2_Missense_Mutation_p.E397Q|CREB5_ENST00000409603.1_Missense_Mutation_p.E371Q	p.E404Q	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	Q02930	CREB5_HUMAN			9	1600	+			404			Leucine-zipper.		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1210G>C	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400163	0.96030	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	L	0.51422	1.61	0.80722	D	1	D;D	0.60160	0.961;0.987	D;D	0.72338	0.966;0.977	T	0.71073	-0.4698	10	0.52906	T	0.07	-11.9288	20.4777	0.99188	0.0:0.0:1.0:0.0	.	265;404	B4DU13;Q02930	.;CREB5_HUMAN	Q	371;404;397;371;265	ENSP00000379593:E371Q;ENSP00000350359:E404Q;ENSP00000379594:E397Q;ENSP00000387197:E371Q;ENSP00000379592:E265Q	ENSP00000350359:E404Q	E	+	1	0	CREB5	28815512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAA		0.577	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		12	49	0	0	0	0.411799	0	12	49				
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	rs587777893		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																						ENST00000361445.4																			3	Substitution - Missense(3)	p.T1977R(2)|p.T1977K(1)	kidney(2)|prostate(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5929-5931)aCa>aGa		mechanistic target of rapamycin (serine/threonine kinase)							117.0	121.0	120.0					1																	11188164		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188164G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg		Somatic				MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	p.T1977R	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			43	6006	-			1977			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5930C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		41	112	0	0	0	0.847076	0	41	112				
FLT1	2321	broad.mit.edu	37	13	29002018	29002018	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr13:29002018A>G	ENST00000282397.4	-	9	1398	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	FLT1_ENST00000539099.1_Missense_Mutation_p.Y383H|FLT1_ENST00000541932.1_Missense_Mutation_p.Y383H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	383	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGAGTCAAATAGCGAGCAGAT	0.388																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1147-1149)Tat>Cat		fms-related tyrosine kinase 1	Sunitinib(DB01268)						115.0	106.0	109.0					13																	29002018		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29002018A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1147T>C	13.37:g.29002018A>G	ENSP00000282397:p.Tyr383His		Somatic				FLT1_ENST00000539099.1_Missense_Mutation_p.Y383H|FLT1_ENST00000541932.1_Missense_Mutation_p.Y383H	p.Y383H	NM_002019.4	NP_002010.2	WXS	Illumina GAIIx	Phase_I	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1398	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	383			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1147T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968489	0.53614	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.67345	-0.26;-0.26;-0.26	5.85	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.127437	0.56097	D	0.000034	T	0.73976	0.3656	L	0.46819	1.47	0.53688	D	0.999973	D;D;D;D	0.69078	0.997;0.997;0.997;0.986	D;D;D;D	0.76575	0.988;0.984;0.988;0.958	T	0.69771	-0.5055	10	0.25106	T	0.35	.	12.3657	0.55226	0.8735:0.0:0.0:0.1264	.	383;383;383;383	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	H	383	ENSP00000282397:Y383H;ENSP00000437631:Y383H;ENSP00000442630:Y383H	ENSP00000282397:Y383H	Y	-	1	0	FLT1	27900018	1.000000	0.71417	0.795000	0.32087	0.329000	0.28539	6.423000	0.73361	1.009000	0.39289	0.528000	0.53228	TAT		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			18	105	0	0	0	0.592651	0	18	105				
GPR116	221395	broad.mit.edu	37	6	46826442	46826442	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:46826442G>A	ENST00000283296.7	-	17	3486	c.3198C>T	c.(3196-3198)acC>acT	p.T1066T	GPR116_ENST00000362015.4_Silent_p.T1066T|GPR116_ENST00000456426.2_Silent_p.T924T|GPR116_ENST00000545669.1_Silent_p.T495T|GPR116_ENST00000265417.7_Silent_p.T1066T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1066					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGAACCAGGTGTTGGCGA	0.532																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3196-3198)acC>acT		G protein-coupled receptor 116							71.0	67.0	69.0					6																	46826442		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826442G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3198C>T	6.37:g.46826442G>A			Somatic				GPR116_ENST00000265417.7_Silent_p.T1066T|GPR116_ENST00000545669.1_Silent_p.T495T|GPR116_ENST00000456426.2_Silent_p.T924T|GPR116_ENST00000362015.4_Silent_p.T1066T	p.T1066T	NM_001098518.1	NP_001091988.1	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3486	-			1066					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3198C>T	CCDS4919.1																																																																																				0.532	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	42	0	0	0	0.184627	0	5	42				
PSMC2	5701	broad.mit.edu	37	7	103002469	103002469	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:103002469C>T	ENST00000435765.1	+	6	767	c.356C>T	c.(355-357)gCc>gTc	p.A119V	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A119V|PSMC2_ENST00000544811.1_5'UTR	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	119					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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 cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGCAGTTTGCCAAGTTTGTG	0.378																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(355-357)gCc>gTc		proteasome (prosome, macropain) 26S subunit, ATPase, 2							160.0	145.0	150.0					7																	103002469		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103002469C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.356C>T	7.37:g.103002469C>T	ENSP00000391211:p.Ala119Val		Somatic				SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A119V|PSMC2_ENST00000544811.1_5'UTR	p.A119V	NM_002803.3	NP_002794.1	WXS	Illumina GAIIx	Phase_I	P35998	PRS7_HUMAN			6	767	+			119					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.356C>T	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664940	0.96745	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.95205	-3.64;-3.64	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.98160	1.0446	10	0.87932	D	0	-12.6107	18.9171	0.92510	0.0:1.0:0.0:0.0	.	119	P35998	PRS7_HUMAN	V	119	ENSP00000391211:A119V;ENSP00000292644:A119V	ENSP00000292644:A119V	A	+	2	0	PSMC2	102789705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.674000	0.83992	2.548000	0.85928	0.555000	0.69702	GCC		0.378	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		4	135	0	0	0	0.150653	0	4	135				
PLIN1	5346	broad.mit.edu	37	15	90220708	90220708	+	Missense_Mutation	SNP	T	T	C	rs554749197	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:90220708T>C	ENST00000300055.5	-	2	178	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	PLIN1_ENST00000430628.2_Missense_Mutation_p.K5E|PEX11A_ENST00000557982.1_5'Flank	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	5					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GTGAGGCCTTTGTTGACTGCC	0.567													T|||	3	0.000599042	0.0	0.0	5008	,	,		17376	0.0		0.0	False		,,,				2504	0.0031					ENST00000300055.5																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						c.(13-15)Aaa>Gaa		perilipin 1							264.0	235.0	245.0					15																	90220708		2200	4299	6499	SO:0001583	missense	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90220708T>C	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.13A>G	15.37:g.90220708T>C	ENSP00000300055:p.Lys5Glu		Somatic				PLIN1_ENST00000430628.2_Missense_Mutation_p.K5E	p.K5E	NM_002666.4	NP_002657.3	WXS	Illumina GAIIx	Phase_I	O60240	PLIN1_HUMAN			2	178	-			5					Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	c.13A>G	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576713	0.65878	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.17213	2.29;2.29	5.65	5.65	0.86999	.	0.440850	0.20931	N	0.083100	T	0.15522	0.0374	N	0.24115	0.695	0.29628	N	0.845669	P	0.52316	0.952	P	0.44518	0.452	T	0.03555	-1.1025	10	0.87932	D	0	-30.5077	13.6633	0.62380	0.0:0.0:0.0:1.0	.	5	O60240	PLIN1_HUMAN	E	5	ENSP00000300055:K5E;ENSP00000402167:K5E	ENSP00000300055:K5E	K	-	1	0	PLIN1	88021712	1.000000	0.71417	0.999000	0.59377	0.395000	0.30598	3.120000	0.50430	2.171000	0.68590	0.456000	0.33151	AAA		0.567	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		8	186	0	0	0	0.307466	0	8	186				
NUP98	4928	broad.mit.edu	37	11	3704554	3704554	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:3704554C>A	ENST00000324932.7	-	30	5214	c.4794G>T	c.(4792-4794)tgG>tgT	p.W1598C	NUP98_ENST00000355260.3_Missense_Mutation_p.W1524C|NUP98_ENST00000359171.4_Missense_Mutation_p.W1524C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1615				S -> T (in Ref. 4; AAL56659). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTCGTGGATCCATTTGGCAG	0.537			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4792-4794)tgG>tgT		nucleoporin 98kDa							143.0	129.0	134.0					11																	3704554		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704554C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4794G>T	11.37:g.3704554C>A	ENSP00000316032:p.Trp1598Cys		Somatic				NUP98_ENST00000359171.4_Missense_Mutation_p.W1524C|NUP98_ENST00000355260.3_Missense_Mutation_p.W1524C	p.W1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	WXS	Illumina GAIIx	Phase_I	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5214	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1615	S -> T (in Ref. 4; AAL56659).				Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4794G>T	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.01|19.01	3.743472|3.743472	0.69418|0.69418	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86628|0.86628	0.5978|0.5978	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.88114|0.88114	0.2827|0.2827	5|9	.|0.87932	.|D	.|0	-6.0507|-6.0507	19.8479|19.8479	0.96722|0.96722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1524;1598;1512	.|P52948-2;P52948-5;P52948-6	.|.;.;.	Y|C	551|1598;1524;1524	.|.	.|ENSP00000316032:W1598C	D|W	-|-	1|3	0|0	NUP98|NUP98	3661130|3661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	7.577000|7.577000	0.82486|0.82486	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.537	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		24	77	1	0	2.21704e-12	0.639603	2.63121e-12	24	77				
PABPC5	140886	broad.mit.edu	37	X	90691444	90691444	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:90691444C>G	ENST00000312600.3	+	2	1082	c.868C>G	c.(868-870)Cgg>Ggg	p.R290G	PABPC5_ENST00000373105.1_Missense_Mutation_p.R126G|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	290						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAGATTTGAACGGCTGAGGTT	0.448																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(868-870)Cgg>Ggg		poly(A) binding protein, cytoplasmic 5							36.0	37.0	37.0					X																	90691444		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691444C>G	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.868C>G	X.37:g.90691444C>G	ENSP00000308012:p.Arg290Gly		Somatic				PABPC5_ENST00000373105.1_Missense_Mutation_p.R126G	p.R290G	NM_080832.2	NP_543022.1	WXS	Illumina GAIIx	Phase_I	Q96DU9	PABP5_HUMAN			2	1082	+			290					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.868C>G	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277166	0.23307	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.99;1.94	4.14	-0.0383	0.13881	.	0.202786	0.42053	D	0.000761	T	0.10637	0.0260	N	0.24115	0.695	0.29705	N	0.839886	P	0.44429	0.835	B	0.31686	0.134	T	0.11036	-1.0604	10	0.87932	D	0	.	11.7213	0.51683	0.5543:0.4457:0.0:0.0	.	290	Q96DU9	PABP5_HUMAN	G	126;290;258	ENSP00000362197:R126G;ENSP00000308012:R290G	ENSP00000308012:R290G	R	+	1	2	PABPC5	90578100	0.992000	0.36948	0.966000	0.40874	0.997000	0.91878	0.988000	0.29616	-0.127000	0.11661	0.529000	0.55759	CGG		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		11	18	0	0	0	0.411799	0	11	18				
UBN2	254048	broad.mit.edu	37	7	138967976	138967976	+	Silent	SNP	G	G	A	rs528507397		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:138967976G>A	ENST00000473989.3	+	15	2325	c.2325G>A	c.(2323-2325)gcG>gcA	p.A775A	UBN2_ENST00000288561.8_Silent_p.A692A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	775						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCTTTAGCGGTTATCAACA	0.478																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2074-2076)gcG>gcA		ubinuclein 2							131.0	129.0	130.0					7																	138967976		1936	4137	6073	SO:0001819	synonymous_variant	254048							g.chr7:138967976G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2325G>A	7.37:g.138967976G>A			Somatic				UBN2_ENST00000473989.2_Silent_p.A775A	p.A692A	NM_173569.3	NP_775840.3	WXS	Illumina GAIIx	Phase_I	Q6ZU65	UBN2_HUMAN			15	2325	+			775					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.2076G>A	CCDS43655.2																																																																																				0.478	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		22	112	0	0	0	0.624587	0	22	112				
USH2A	7399	broad.mit.edu	37	1	215799123	215799123	+	Nonstop_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:215799123T>G	ENST00000307340.3	-	72	15995	c.15609A>C	c.(15607-15609)taA>taC	p.*5203Y	USH2A_ENST00000366943.2_Nonstop_Mutation_p.*5227Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	0					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCCATCCTTTACAGGTGGG	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15679-15681)taA>taC		Usher syndrome 2A (autosomal recessive, mild)							334.0	264.0	288.0					1																	215799123		2203	4300	6503	SO:0001578	stop_lost	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215799123T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15609A>C	1.37:g.215799123T>G		HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Nonstop_Mutation_p.*5203Y	p.*5227Y			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	73	16067	-			0					Q5VVM9|Q6S362|Q9NS27	Nonstop_Mutation	SNP	ENST00000307340.3	37	c.15681A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248809	0.39797	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.71	0.724	0.18236	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7494	0.40466	0.0:0.2557:0.0:0.7443	.	.	.	.	Y	5203;5227	.	.	X	-	3	2	USH2A	213865746	0.021000	0.18746	0.001000	0.08648	0.095000	0.18619	1.538000	0.36094	-0.116000	0.11893	0.482000	0.46254	TAA		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	60	0	0	0	0.278610	0	8	60				
OR2T33	391195	broad.mit.edu	37	1	248436253	248436253	+	Nonsense_Mutation	SNP	G	G	C	rs145618749		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:248436253G>C	ENST00000318021.2	-	1	885	c.864C>G	c.(862-864)taC>taG	p.Y288*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	288						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(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTCACACTGTAGATGAGGG	0.468													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.0					ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(862-864)taC>taG		olfactory receptor, family 2, subfamily T, member 33							156.0	159.0	158.0					1																	248436253		2203	4300	6503	SO:0001587	stop_gained	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436253G>C		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.864C>G	1.37:g.248436253G>C	ENSP00000324687:p.Tyr288*		Somatic					p.Y288*	NM_001004695.1	NP_001004695.1	WXS	Illumina GAIIx	Phase_I	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	885	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288					B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	37	c.864C>G	CCDS31109.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	10.05	1.243255	0.22796	.	.	ENSG00000177212	ENST00000318021	.	.	.	1.6	-0.558	0.11796	.	0.000000	0.28989	U	0.013488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.063	0.25137	0.2622:0.0:0.7378:0.0	.	.	.	.	X	288	.	ENSP00000324687:Y288X	Y	-	3	2	OR2T33	246502876	0.895000	0.30542	0.358000	0.25811	0.109000	0.19521	1.020000	0.30027	-0.150000	0.11195	0.175000	0.17021	TAC		0.468	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		31	166	0	0	0	0.750413	0	31	166				
RFX2	5990	broad.mit.edu	37	19	5997191	5997191	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:5997191G>A	ENST00000303657.5	-	16	2042	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGGCAGCGCTGCGCAGGG	0.672																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1891-1893)agC>agT		regulatory factor X, 2 (influences HLA class II expression)							72.0	55.0	60.0					19																	5997191		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5997191G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1893C>T	19.37:g.5997191G>A			Somatic				RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S|CTC-232P5.1_ENST00000587836.1_RNA	p.S631S	NM_000635.3	NP_000626.2	WXS	Illumina GAIIx	Phase_I	P48378	RFX2_HUMAN			16	2042	-			631					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.1893C>T	CCDS12157.1																																																																																				0.672	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		12	33	0	0	0	0.411799	0	12	33				
CSMD1	64478	broad.mit.edu	37	8	3216673	3216673	+	Splice_Site	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:3216673C>A	ENST00000520002.1	-	22	3863		c.e22+1		CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCACCTACCCACACACCT	0.582																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.e22+1		CUB and Sushi multiple domains 1							65.0	67.0	67.0					8																	3216673		2203	4300	6503	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3216673C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3307+1G>T	8.37:g.3216673C>A			Somatic				CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3863	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	c	27.4	4.825441	0.90955	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9218	0.92528	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3204080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.454000	0.82982	0.550000	0.68814	.		0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	6	81	1	0	5.9392e-07	0.217242	6.6816e-07	6	81				
NLRP3	114548	broad.mit.edu	37	1	247593009	247593009	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:247593009T>C	ENST00000336119.3	+	4	3025	c.2279T>C	c.(2278-2280)gTg>gCg	p.V760A	NLRP3_ENST00000366497.2_Missense_Mutation_p.V760A|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.V760A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V760A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	760					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGATGAGAGTGTTGTGTGAA	0.512																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2278-2280)gTg>gCg		NLR family, pyrin domain containing 3							99.0	93.0	95.0					1																	247593009		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247593009T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2279T>C	1.37:g.247593009T>C	ENSP00000337383:p.Val760Ala		Somatic				NLRP3_ENST00000391828.3_Missense_Mutation_p.V760A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V760A|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.V760A|NLRP3_ENST00000348069.2_Intron	p.V760A	NM_001127461.2	NP_001120933.1	WXS	Illumina GAIIx	Phase_I	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	3059	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	817					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2279T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	3.248	-0.153912	0.06585	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000366496	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.21	3.08	0.35506	.	0.000000	0.39475	N	0.001359	T	0.69646	0.3134	N	0.04132	-0.27	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.001	B;B;B	0.21917	0.006;0.037;0.012	T	0.58289	-0.7662	10	0.33940	T	0.23	.	6.3261	0.21244	0.0:0.1123:0.0:0.8877	.	760;760;760	B7ZKS9;Q96P20-5;Q96P20	.;.;NALP3_HUMAN	A	760	ENSP00000375704:V760A;ENSP00000355453:V760A;ENSP00000337383:V760A;ENSP00000355452:V760A	ENSP00000337383:V760A	V	+	2	0	NLRP3	245659632	0.003000	0.15002	0.103000	0.21229	0.113000	0.19764	0.736000	0.26130	0.805000	0.34159	0.439000	0.28862	GTG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		12	65	0	0	0	0.387290	0	12	65				
DNMBP	23268	broad.mit.edu	37	10	101715031	101715031	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:101715031C>A	ENST00000324109.4	-	4	2291	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.D734Y	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	734					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AACTTGAGATCCTCGAGGGTC	0.418																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(2200-2202)Gat>Tat		dynamin binding protein							121.0	115.0	117.0					10																	101715031		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715031C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2200G>T	10.37:g.101715031C>A	ENSP00000315659:p.Asp734Tyr		Somatic				DNMBP_ENST00000324109.4_Missense_Mutation_p.D734Y|DNMBP-AS1_ENST00000434409.1_RNA	p.D734Y			WXS	Illumina GAIIx	Phase_I	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2291	-		Colorectal(252;0.234)	734					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2200G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292589	0.40594	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12147	2.76;2.71	5.8	2.19	0.27852	.	0.650213	0.13487	N	0.384230	T	0.10766	0.0263	L	0.36672	1.1	0.80722	D	1	P	0.40875	0.731	B	0.36244	0.22	T	0.08889	-1.0700	10	0.72032	D	0.01	-2.6758	8.8445	0.35162	0.0:0.2273:0.0:0.7727	.	734	Q6XZF7	DNMBP_HUMAN	Y	734	ENSP00000344914:D734Y;ENSP00000315659:D734Y	ENSP00000315659:D734Y	D	-	1	0	DNMBP	101705021	1.000000	0.71417	0.022000	0.16811	0.864000	0.49448	1.958000	0.40402	0.126000	0.18424	-0.339000	0.08088	GAT		0.418	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		5	177	1	0	3.59834e-05	0.217242	3.8862e-05	5	177				
HIST2H2AB	317772	broad.mit.edu	37	1	149859298	149859298	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:149859298C>G	ENST00000331128.3	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(169-171)Gag>Cag		histone cluster 2, H2ab							44.0	49.0	47.0					1																	149859298		2203	4300	6503	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859298C>G	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.169G>C	1.37:g.149859298C>G	ENSP00000332790:p.Glu57Gln		Somatic					p.E57Q	NM_175065.2	NP_778235.1	WXS	Illumina GAIIx	Phase_I	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	168	-	Breast(34;0.0124)|all_hematologic(923;0.127)		57						Missense_Mutation	SNP	ENST00000331128.3	37	c.169G>C	CCDS938.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190577	0.58017	.	.	ENSG00000184270	ENST00000331128	T	0.61859	0.07	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.92169	3.28	0.51482	D	0.999923	D	0.89917	1.0	D	0.97110	1.0	T	0.83235	-0.0061	10	0.87932	D	0	.	14.7467	0.69494	0.0:1.0:0.0:0.0	.	57	Q8IUE6	H2A2B_HUMAN	Q	57	ENSP00000332790:E57Q	ENSP00000332790:E57Q	E	-	1	0	HIST2H2AB	148125922	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	4.977000	0.63792	2.621000	0.88768	0.655000	0.94253	GAG		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		9	72	0	0	0	0.361761	0	9	72				
GPR32	2854	broad.mit.edu	37	19	51274133	51274133	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:51274133A>G	ENST00000270590.4	+	1	413	c.276A>G	c.(274-276)tcA>tcG	p.S92S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	92					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATGCTCTCACTGTCTCTGC	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(274-276)tcA>tcG		G protein-coupled receptor 32							158.0	127.0	138.0					19																	51274133		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274133A>G	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.276A>G	19.37:g.51274133A>G			Somatic					p.S92S	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	413	+		all_neural(266;0.131)	92					Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.276A>G	CCDS12801.1																																																																																				0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			13	45	0	0	0	0.411799	0	13	45				
NGB	58157	broad.mit.edu	37	14	77734858	77734858	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:77734858C>A	ENST00000298352.4	-	3	646	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	91	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCTGCCCAGGCTGGCAAGGTA	0.587																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(271-273)aGc>aTc		neuroglobin							121.0	97.0	105.0					14																	77734858		2203	4300	6503	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77734858C>A	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.272G>T	14.37:g.77734858C>A	ENSP00000298352:p.Ser91Ile		Somatic					p.S91I	NM_021257.3	NP_067080.1	WXS	Illumina GAIIx	Phase_I	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	3	646	-			91			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.272G>T	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253795	0.39896	.	.	ENSG00000165553	ENST00000298352	D	0.93189	-3.18	4.44	0.953	0.19590	Globin-like (1);Globin, structural domain (1);	0.420159	0.28354	N	0.015654	D	0.93148	0.7818	L	0.52573	1.65	0.36583	D	0.873676	D	0.61080	0.989	D	0.69479	0.964	D	0.90706	0.4624	10	0.49607	T	0.09	.	4.3226	0.11025	0.0:0.5027:0.1876:0.3097	.	91	Q9NPG2	NGB_HUMAN	I	91	ENSP00000298352:S91I	ENSP00000298352:S91I	S	-	2	0	NGB	76804611	0.970000	0.33590	0.423000	0.26634	0.424000	0.31475	1.737000	0.38197	0.312000	0.23038	-0.424000	0.05967	AGC		0.587	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		7	62	1	0	0.00307968	0.278610	0.00322918	7	62				
SLITRK2	84631	broad.mit.edu	37	X	144904214	144904214	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:144904214C>T	ENST00000370490.1	+	1	4526	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	91					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCGGTGACTCTTCACCTAGG	0.463																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(271-273)Ctt>Ttt		SLIT and NTRK-like family, member 2							85.0	77.0	80.0					X																	144904214		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904214C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.271C>T	X.37:g.144904214C>T	ENSP00000359521:p.Leu91Phe		Somatic				SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91F	p.L91F			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	4526	+	Acute lymphoblastic leukemia(192;6.56e-05)		91					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.271C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704591	0.88924	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	D	0.92004	0.7467	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94017	0.7289	10	0.87932	D	0	-7.231	14.8435	0.70243	0.0:1.0:0.0:0.0	.	91	Q9H156	SLIK2_HUMAN	F	91	ENSP00000334374:L91F;ENSP00000411681:L91F;ENSP00000359521:L91F;ENSP00000397015:L91F;ENSP00000407347:L91F;ENSP00000412010:L91F	ENSP00000334374:L91F	L	+	1	0	SLITRK2	144711906	0.991000	0.36638	0.992000	0.48379	0.863000	0.49368	2.689000	0.46993	2.087000	0.62958	0.600000	0.82982	CTT		0.463	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		4	70	0	0	0	0.150653	0	4	70				
RBBP8NL	140893	broad.mit.edu	37	20	60987771	60987771	+	Silent	SNP	C	C	T	rs540423937		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:60987771C>T	ENST00000252998.1	-	13	1941	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	595						extracellular space (GO:0005615)											CCTCCCCGGTCGTGCTCGTAG	0.687																																						ENST00000252998.1																			0											c.(1783-1785)acG>acA		RBBP8 N-terminal like							60.0	58.0	58.0					20																	60987771		2202	4298	6500	SO:0001819	synonymous_variant	140893							g.chr20:60987771C>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1785G>A	20.37:g.60987771C>T			Somatic					p.T595T	NM_080833.2	NP_543023.2	WXS	Illumina GAIIx	Phase_I					13	1941	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1785G>A	CCDS13498.1																																																																																				0.687	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		8	98	0	0	0	0.335167	0	8	98				
KLC1	3831	broad.mit.edu	37	14	104145868	104145868	+	Missense_Mutation	SNP	G	G	T	rs373604676		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:104145868G>T	ENST00000348520.6	+	13	1955	c.1636G>T	c.(1636-1638)Gta>Tta	p.V546L	KLC1_ENST00000246489.7_Missense_Mutation_p.V546L|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000334553.6_Missense_Mutation_p.V546L|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000389744.4_Missense_Mutation_p.V546L|KLC1_ENST00000452929.2_Missense_Mutation_p.V546L|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000445352.4_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000557575.1_Missense_Mutation_p.V546L|KLC1_ENST00000553286.1_Missense_Mutation_p.V546L|KLC1_ENST00000380038.3_Intron|RP11-894P9.1_ENST00000498989.2_RNA|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V718L	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	546					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAGTATGAGCGTAGAGTGGAA	0.612																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(1636-1638)Gta>Tta		kinesin light chain 1							162.0	125.0	138.0					14																	104145868		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104145868G>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1636G>T	14.37:g.104145868G>T	ENSP00000341154:p.Val546Leu		Somatic				KLC1_ENST00000557575.1_Missense_Mutation_p.V546L|KLC1_ENST00000452929.2_Missense_Mutation_p.V546L|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000380038.3_Intron|KLC1_ENST00000334553.6_Missense_Mutation_p.V546L|KLC1_ENST00000445352.4_Intron|KLC1_ENST00000553286.1_Missense_Mutation_p.V546L|KLC1_ENST00000348520.6_Missense_Mutation_p.V546L|KLC1_ENST00000246489.7_Missense_Mutation_p.V546L|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V718L|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000554280.1_Intron	p.V546L			WXS	Illumina GAIIx	Phase_I	Q07866	KLC1_HUMAN			13	1905	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	546					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.1636G>T	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602159|4.602159	0.87055|0.87055	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000537046;ENST00000535194|ENST00000348520;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000334553;ENST00000246489;ENST00000452929;ENST00000472726	.|T;T;T;T;T;T;T;T	.|0.79940	.|-1.32;-1.31;-1.25;-1.31;-1.27;-1.26;-1.27;-0.57	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84790|0.84790	0.5550|0.5550	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;B;P;P	.|0.50066	.|0.783;0.078;0.73;0.931	.|B;B;B;P	.|0.60286	.|0.242;0.05;0.396;0.872	T|T	0.83196|0.83196	-0.0081|-0.0081	5|10	.|0.41790	.|T	.|0.15	-10.1584|-10.1584	20.1381|20.1381	0.98040|0.98040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|546;718;546;546	.|F8VTM4;E7EVH7;Q07866-4;Q07866	.|.;.;.;KLC1_HUMAN	L|L	176;45|546;546;546;546;546;546;546;718	.|ENSP00000341154:V546L;ENSP00000374394:V546L;ENSP00000450617:V546L;ENSP00000452487:V546L;ENSP00000334523:V546L;ENSP00000246489:V546L;ENSP00000414982:V546L;ENSP00000439065:V718L	.|ENSP00000246489:V546L	R|V	+|+	2|1	0|0	KLC1|KLC1;RP11-73M18.2	103215621|103215621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.787000|9.787000	0.99055|0.99055	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.612	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		22	78	1	0	1.10923e-09	0.639603	1.28814e-09	22	78				
GNAT3	346562	broad.mit.edu	37	7	80091851	80091851	+	Silent	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:80091851G>C	ENST00000398291.3	-	6	780	c.687C>G	c.(685-687)gcC>gcG	p.A229A	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCATGTCATAGGCACTAAGTG	0.403																																						ENST00000398291.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(685-687)gcC>gcG		guanine nucleotide binding protein, alpha transducing 3							144.0	136.0	138.0					7																	80091851		1989	4206	6195	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091851G>C		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.687C>G	7.37:g.80091851G>C			Somatic				CD36_ENST00000435819.1_Intron	p.A229A	NM_001102386.1	NP_001095856.1	WXS	Illumina GAIIx	Phase_I	A8MTJ3	GNAT3_HUMAN			6	780	-			229					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.687C>G	CCDS47625.1																																																																																				0.403	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		34	89	0	0	0	0.769981	0	34	89				
REV1	51455	broad.mit.edu	37	2	100019482	100019482	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:100019482C>T	ENST00000258428.3	-	20	3482	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Missense_Mutation_p.R1084K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1085					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCTGAATCCTTTTTGGTGA	0.403								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3253-3255)aGg>aAg	Direct reversal of damage	REV1, polymerase (DNA directed)							92.0	87.0	88.0					2																	100019482		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019482C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3254G>A	2.37:g.100019482C>T	ENSP00000258428:p.Arg1085Lys		Somatic				REV1_ENST00000393445.3_Missense_Mutation_p.R1084K	p.R1085K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	WXS	Illumina GAIIx	Phase_I	Q9UBZ9	REV1_HUMAN			20	3482	-			1085					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3254G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	2.430	-0.331138	0.05314	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.24151	1.87;1.87	5.95	0.813	0.18749	.	0.325975	0.40469	N	0.001098	T	0.04227	0.0117	N	0.00308	-1.67	0.20307	N	0.999913	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41484	-0.9506	10	0.02654	T	1	.	5.3511	0.16036	0.0:0.2925:0.1396:0.5679	.	1085;1084	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	1084;1085	ENSP00000377091:R1084K;ENSP00000258428:R1085K	ENSP00000258428:R1085K	R	-	2	0	REV1	99385914	0.997000	0.39634	0.647000	0.29507	0.528000	0.34623	0.968000	0.29357	0.178000	0.19917	-0.302000	0.09304	AGG		0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		4	75	0	0	0	0.184627	0	4	75				
ANKRD18A	253650	broad.mit.edu	37	9	38615607	38615607	+	Missense_Mutation	SNP	A	A	C	rs371435111		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:38615607A>C	ENST00000399703.5	-	3	853	c.479T>G	c.(478-480)aTt>aGt	p.I160S		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	160										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TAGTGCTTCAATATTTGCATG	0.358																																						ENST00000399703.5																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						c.(478-480)aTt>aGt		ankyrin repeat domain 18A							92.0	78.0	82.0					9																	38615607		692	1590	2282	SO:0001583	missense	253650							g.chr9:38615607A>C	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.479T>G	9.37:g.38615607A>C	ENSP00000382610:p.Ile160Ser		Somatic					p.I160S	NM_147195.2	NP_671728.2	WXS	Illumina GAIIx	Phase_I	Q8IVF6	AN18A_HUMAN			3	853	-			160					A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	ENST00000399703.5	37	c.479T>G	CCDS55311.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890623	0.33348	.	.	ENSG00000180071	ENST00000399703	T	0.67523	-0.27	1.4	-0.754	0.11065	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.62085	0.2399	M	0.89904	3.07	0.80722	D	1	P	0.41569	0.755	B	0.31869	0.137	T	0.61277	-0.7095	9	0.87932	D	0	.	4.7164	0.12898	0.6493:0.0:0.3507:0.0	.	160	Q8IVF6	AN18A_HUMAN	S	160	ENSP00000382610:I160S	ENSP00000382610:I160S	I	-	2	0	ANKRD18A	38605607	0.517000	0.26226	0.011000	0.14972	0.213000	0.24496	1.336000	0.33850	-0.226000	0.09899	0.163000	0.16589	ATT		0.358	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3			4	16	0	0	0	0.150653	0	4	16				
OR1N1	138883	broad.mit.edu	37	9	125289274	125289274	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125289274T>C	ENST00000304880.2	-	1	298	c.299A>G	c.(298-300)tAt>tGt	p.Y100C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAAAGAAATACATTTGCGT	0.498																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(298-300)tAt>tGt		olfactory receptor, family 1, subfamily N, member 1							94.0	91.0	92.0					9																	125289274		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289274T>C	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.299A>G	9.37:g.125289274T>C	ENSP00000306974:p.Tyr100Cys		Somatic					p.Y100C	NM_012363.1	NP_036495.1	WXS	Illumina GAIIx	Phase_I	Q8NGS0	OR1N1_HUMAN			1	298	-			100					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.299A>G	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109629	0.77096	.	.	ENSG00000171505	ENST00000304880	T	0.00483	7.09	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32703	U	0.005743	T	0.01061	0.0035	M	0.72353	2.195	0.33177	D	0.549071	D	0.89917	1.0	D	0.91635	0.999	T	0.52845	-0.8521	10	0.48119	T	0.1	.	8.1191	0.30961	0.1804:0.0:0.0:0.8196	.	100	Q8NGS0	OR1N1_HUMAN	C	100	ENSP00000306974:Y100C	ENSP00000306974:Y100C	Y	-	2	0	OR1N1	124329095	0.343000	0.24818	0.299000	0.25016	0.927000	0.56198	0.203000	0.17315	1.677000	0.50941	0.445000	0.29226	TAT		0.498	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			16	40	0	0	0	0.539581	0	16	40				
PGLYRP4	57115	broad.mit.edu	37	1	153318667	153318667	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:153318667C>T	ENST00000359650.5	-	3	114	c.50G>A	c.(49-51)gGt>gAt	p.G17D	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Splice_Site_p.G17D	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	17					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGAATCACCTGCAAAGGA	0.488																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e3-1		peptidoglycan recognition protein 4							207.0	204.0	205.0					1																	153318667		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153318667C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.50-1G>A	1.37:g.153318667C>T			Somatic				PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Splice_Site_p.G17_splice	p.G17_splice			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	408	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		17					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.49_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466638	0.26335	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.06528	3.29;3.3	3.25	1.32	0.21799	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B;B	0.18461	0.028;0.016	B;B	0.23018	0.043;0.012	T	0.47873	-0.9083	9	0.51188	T	0.08	.	4.7571	0.13090	0.0:0.6532:0.2213:0.1255	.	17;17	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	D	17	ENSP00000357728:G17D;ENSP00000352672:G17D	ENSP00000352672:G17D	G	-	2	0	PGLYRP4	151585291	0.125000	0.22332	0.044000	0.18714	0.537000	0.34900	0.316000	0.19469	0.364000	0.24374	-0.362000	0.07510	GGT		0.488	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Missense_Mutation	8	191	0	0	0	0.278610	0	8	191				
BANF2	140836	broad.mit.edu	37	20	17705770	17705770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:17705770A>G	ENST00000246090.5	+	3	362	c.100A>G	c.(100-102)Aat>Gat	p.N34D	BANF2_ENST00000545418.2_Missense_Mutation_p.N41D|BANF2_ENST00000377805.3_Missense_Mutation_p.N34D	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	34						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCTCGCGATCAATTTGGTCAC	0.488																																						ENST00000246090.5																			0				large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(100-102)Aat>Gat		barrier to autointegration factor 2							151.0	139.0	143.0					20																	17705770		2203	4300	6503	SO:0001583	missense	140836					cytoplasm|nucleus	DNA binding	g.chr20:17705770A>G	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.100A>G	20.37:g.17705770A>G	ENSP00000246090:p.Asn34Asp		Somatic				BANF2_ENST00000377805.3_Missense_Mutation_p.N34D|BANF2_ENST00000545418.2_Missense_Mutation_p.N41D	p.N34D	NM_178477.4	NP_848572.3	WXS	Illumina GAIIx	Phase_I	Q9H503	BAFL_HUMAN			3	362	+			34					D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	c.100A>G	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943603	0.53079	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.05	3.86	0.44501	.	0.288164	0.27720	N	0.018128	T	0.40932	0.1137	.	.	.	0.27545	N	0.950669	P;P	0.39576	0.667;0.679	B;B	0.37387	0.179;0.248	T	0.46512	-0.9186	9	0.87932	D	0	.	8.2961	0.31986	0.7993:0.2007:0.0:0.0	.	41;34	F5H3F6;Q9H503	.;BAFL_HUMAN	D	41;34;34;34	ENSP00000439128:N41D;ENSP00000398738:N34D;ENSP00000367036:N34D;ENSP00000246090:N34D	ENSP00000246090:N34D	N	+	1	0	BANF2	17653770	0.998000	0.40836	0.983000	0.44433	0.705000	0.40729	2.518000	0.45537	2.184000	0.69523	0.533000	0.62120	AAT		0.488	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		4	152	0	0	0	0.217242	0	4	152				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	284802							g.chr20:29625891C>G			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.135C>G	20.37:g.29625891C>G			Somatic				FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G	p.G45G			WXS	Illumina GAIIx	Phase_I					5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	108	0	0	0	0.411799	0	8	108				
KCNH1	3756	broad.mit.edu	37	1	211093085	211093085	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:211093085C>T	ENST00000271751.4	-	7	1386	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	KCNH1_ENST00000367007.4_Silent_p.S426S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	453					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.S453S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAAATACAACGAGGAGATGT	0.502																																						ENST00000367007.4																			1	Substitution - coding silent(1)	p.S453S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1276-1278)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 1							170.0	162.0	164.0					1																	211093085		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093085C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1359G>A	1.37:g.211093085C>T			Somatic				KCNH1_ENST00000271751.4_Silent_p.S453S	p.S426S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina GAIIx	Phase_I	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1447	-			453					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1278G>A	CCDS1496.1																																																																																				0.502	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		21	94	0	0	0	0.575678	0	21	94				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	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		Somatic				RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1	WXS	Illumina GAIIx	Phase_I					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	43	0	0	0	0.115264	0	3	43				
HNMT	3176	broad.mit.edu	37	2	138771555	138771555	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:138771555C>G	ENST00000280097.3	+	6	916	c.734C>G	c.(733-735)aCt>aGt	p.T245S	HNMT_ENST00000410115.1_Missense_Mutation_p.T245S|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	245					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GATTTTTTGACTGAAACCTGC	0.428																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(733-735)aCt>aGt		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						164.0	167.0	166.0					2																	138771555		2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138771555C>G		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.734C>G	2.37:g.138771555C>G	ENSP00000280097:p.Thr245Ser		Somatic				HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.T245S	p.T245S	NM_006895.2	NP_008826.1	WXS	Illumina GAIIx	Phase_I	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	6	916	+			245					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.734C>G	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509114	0.85282	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.47869	0.83;0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.75777	2.31	0.80722	D	1	D	0.62365	0.991	P	0.52424	0.698	T	0.66814	-0.5828	10	0.66056	D	0.02	-4.6172	20.0155	0.97477	0.0:1.0:0.0:0.0	.	245	P50135	HNMT_HUMAN	S	245	ENSP00000386940:T245S;ENSP00000280097:T245S	ENSP00000280097:T245S	T	+	2	0	HNMT	138488025	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.118000	0.77137	2.742000	0.94016	0.591000	0.81541	ACT		0.428	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			27	202	0	0	0	0.729181	0	27	202				
SLC9A6	10479	broad.mit.edu	37	X	135080342	135080342	+	Silent	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:135080342A>C	ENST00000370698.3	+	3	540	c.505A>C	c.(505-507)Agg>Cgg	p.R169R	SLC9A6_ENST00000370701.1_Silent_p.R149R|SLC9A6_ENST00000370695.4_Silent_p.R201R	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	169					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TAGCCTGAAAAGGGTAAGTCC	0.313																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(601-603)Agg>Cgg		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							64.0	65.0	65.0					X																	135080342		2203	4295	6498	SO:0001819	synonymous_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135080342A>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.505A>C	X.37:g.135080342A>C			Somatic				SLC9A6_ENST00000370698.3_Silent_p.R169R|SLC9A6_ENST00000370701.1_Silent_p.R149R	p.R201R	NM_001042537.1	NP_001036002.1	WXS	Illumina GAIIx	Phase_I	Q92581	SL9A6_HUMAN			3	636	+	Acute lymphoblastic leukemia(192;0.000127)		169					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	c.601A>C	CCDS14654.1																																																																																				0.313	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		31	33	0	0	0	0.760397	0	31	33				
CDYL	9425	broad.mit.edu	37	6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(859-861)Tct>Cct		chromodomain protein, Y-like							59.0	55.0	56.0					6																	4935754		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4935754T>C	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.859T>C	6.37:g.4935754T>C	ENSP00000330512:p.Ser287Pro		Somatic				CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000472453.1_3'UTR	p.S287P			WXS	Illumina GAIIx	Phase_I	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	5	990	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	287					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.859T>C		.	.	.	.	.	.	.	.	.	.	T	15.78	2.933118	0.52866	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.57752	0.76;0.38;0.38;0.38	6.07	6.07	0.98685	.	0.268407	0.36893	N	0.002347	T	0.34716	0.0907	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.004	T	0.32295	-0.9912	10	0.48119	T	0.1	.	11.644	0.51250	0.0:0.0704:0.0:0.9296	.	233;287	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	P	287;13;233;101;101	ENSP00000330512:S287P;ENSP00000380718:S233P;ENSP00000394076:S101P;ENSP00000340908:S101P	ENSP00000330512:S287P	S	+	1	0	CDYL	4880753	1.000000	0.71417	0.877000	0.34402	0.964000	0.63967	3.324000	0.52022	2.326000	0.78906	0.533000	0.62120	TCT		0.438	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		7	40	0	0	0	0.307466	0	7	40				
ETV4	2118	broad.mit.edu	37	17	41611247	41611247	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:41611247G>A	ENST00000319349.5	-	6	661	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ETV4_ENST00000591713.1_Silent_p.G121G|ETV4_ENST00000393664.2_Silent_p.G121G|ETV4_ENST00000545089.1_Silent_p.G121G|ETV4_ENST00000545954.1_Silent_p.G82G|ETV4_ENST00000538265.1_Silent_p.G82G	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	121					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGCACTGCTCGCCATGGTGGT	0.657			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(361-363)ggC>ggT		ets variant 4							50.0	49.0	49.0					17																	41611247		2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41611247G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.363C>T	17.37:g.41611247G>A			Somatic				ETV4_ENST00000538265.1_Silent_p.G82G|ETV4_ENST00000393664.2_Silent_p.G121G|ETV4_ENST00000591713.1_Silent_p.G121G|ETV4_ENST00000545954.1_Silent_p.G82G|ETV4_ENST00000545089.1_Silent_p.G121G	p.G121G	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	6	661	-		Breast(137;0.00908)	121					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.363C>T	CCDS11465.1																																																																																				0.657	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		4	21	0	0	0	0.184627	0	4	21				
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443																																						ENST00000303324.2																			1	Substitution - coding silent(1)	p.I216I(1)	prostate(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(646-648)atA>atC		olfactory receptor, family 2, subfamily B, member 2							124.0	111.0	115.0					6																	27879450		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879450T>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.648A>C	6.37:g.27879450T>G			Somatic					p.I216I	NM_033057.2	NP_149046.2	WXS	Illumina GAIIx	Phase_I	Q9GZK3	OR2B2_HUMAN			1	724	-			216					B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.648A>C	CCDS4641.1																																																																																				0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			3	82	0	0	0	0.115264	0	3	82				
EMB	133418	broad.mit.edu	37	5	49707089	49707089	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:49707089G>T	ENST00000303221.5	-	3	540	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	EMB_ENST00000514111.1_Missense_Mutation_p.Q59K|EMB_ENST00000508934.1_Intron|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	109	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCTCAAGTTGTTCACCATCT	0.373																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(325-327)Caa>Aaa		embigin							107.0	105.0	106.0					5																	49707089		2203	4300	6503	SO:0001583	missense	133418					integral to membrane		g.chr5:49707089G>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.325C>A	5.37:g.49707089G>T	ENSP00000302289:p.Gln109Lys		Somatic				EMB_ENST00000508934.1_Intron|EMB_ENST00000514111.1_Missense_Mutation_p.Q59K|EMB_ENST00000506190.1_5'UTR	p.Q109K	NM_198449.2	NP_940851.1	WXS	Illumina GAIIx	Phase_I	Q6PCB8	EMB_HUMAN			3	540	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	109			Ig-like V-type 1.		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.325C>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972521	0.02215	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000514111	T;T	0.11063	2.81;2.81	5.4	-4.28	0.03732	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.963671	0.08583	N	0.924275	T	0.07098	0.0180	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.42275	-0.9461	9	.	.	.	2.4633	3.4071	0.07344	0.1394:0.4318:0.2194:0.2093	.	109	Q6PCB8	EMB_HUMAN	K	109;81;59	ENSP00000302289:Q109K;ENSP00000426404:Q59K	.	Q	-	1	0	EMB	49742846	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.027000	0.13621	-0.838000	0.04218	-0.902000	0.02854	CAA		0.373	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		25	113	1	0	4.4004e-07	0.654019	5.00256e-07	25	113				
ARHGAP30	257106	broad.mit.edu	37	1	161018367	161018367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:161018367delC	ENST00000368013.3	-	12	2764	c.2444delG	c.(2443-2445)ggafs	p.G815fs	ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G638fs|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	815	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCACCATCTCCTTGGTCTTT	0.537																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2443-2445)gafs		Rho GTPase activating protein 30							198.0	184.0	189.0					1																	161018367		2203	4300	6503	SO:0001589	frameshift_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018367delC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2444delG	1.37:g.161018367delC	ENSP00000356992:p.Gly815fs		Somatic				ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G638fs|ARHGAP30_ENST00000368016.3_Intron	p.G815fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	WXS	Illumina GAIIx	Phase_I	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2764	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		815			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Frame_Shift_Del	DEL	ENST00000368013.3	37	c.2444delG	CCDS30918.1																																																																																				0.537	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		39	149						39	149	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			Somatic	OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924					WXS	Illumina GAIIx	Phase_I					0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	6						3	6	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52637711	52637712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52637711_52637712insA	ENST00000296302.7	-	17	2605_2606	c.2604_2605insT	c.(2602-2607)cttcagfs	p.Q869fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Q837fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Q884fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Q884fs			Q86U86	PB1_HUMAN	polybromo 1	869					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q869*(2)|p.Q837*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACTGCTGAAGTTCTACTG	0.337			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.Q869*(2)|p.Q837*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2506-2511)ctagcafs		polybromo 1																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637711_52637712insA	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2605dupT	3.37:g.52637713_52637713dupA	ENSP00000296302:p.Gln869fs		Somatic				PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.A884fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.A884fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.A869fs	p.A837fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2510_2511	-			869			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37	c.2508_2509insT																																																																																					0.337	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		10	34						10	34	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41687773	41687774	+	In_Frame_Ins	INS	-	-	GAT			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:41687773_41687774insGAT	ENST00000313860.7	+	23	2916_2917	c.2862_2863insGAT	c.(2863-2865)gat>GATgat	p.955_955D>DD	LIMCH1_ENST00000512946.1_In_Frame_Ins_p.955_955D>DD|LIMCH1_ENST00000503057.1_In_Frame_Ins_p.1339_1339D>DD|LIMCH1_ENST00000512632.1_In_Frame_Ins_p.878_878D>DD|LIMCH1_ENST00000508501.1_In_Frame_Ins_p.954_954D>DD|LIMCH1_ENST00000396595.3_In_Frame_Ins_p.800_800D>DD|LIMCH1_ENST00000509277.1_In_Frame_Ins_p.788_788D>DD|LIMCH1_ENST00000381753.4_In_Frame_Ins_p.788_788D>DD|LIMCH1_ENST00000511496.1_In_Frame_Ins_p.795_795D>DD|LIMCH1_ENST00000514096.1_In_Frame_Ins_p.795_795D>DD|LIMCH1_ENST00000513024.1_In_Frame_Ins_p.808_808D>DD|LIMCH1_ENST00000512820.1_In_Frame_Ins_p.967_967D>DD	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	955					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACAGTTCAGAAGATGTGAAGCC	0.45																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2860-2865)gaatgt>gaGATatgt		LIM and calponin homology domains 1																																				SO:0001652	inframe_insertion	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41687773_41687774insGAT	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2863_2865dupGAT	4.37:g.41687774_41687776dupGAT	ENSP00000316891:p.Asp955dup		Somatic				LIMCH1_ENST00000381753.4_In_Frame_Ins_p.787_788EC>EIC|LIMCH1_ENST00000512820.1_In_Frame_Ins_p.966_967EC>EIC|LIMCH1_ENST00000512632.1_In_Frame_Ins_p.877_878EC>EIC|LIMCH1_ENST00000396595.3_In_Frame_Ins_p.799_800EC>EIC|LIMCH1_ENST00000508501.1_In_Frame_Ins_p.953_954EC>EIC|LIMCH1_ENST00000514096.1_In_Frame_Ins_p.794_795EC>EIC|LIMCH1_ENST00000511496.1_In_Frame_Ins_p.794_795EC>EIC|LIMCH1_ENST00000513024.1_In_Frame_Ins_p.807_808EC>EIC|LIMCH1_ENST00000512946.1_In_Frame_Ins_p.954_955EC>EIC|LIMCH1_ENST00000503057.1_In_Frame_Ins_p.1338_1339EC>EIC|LIMCH1_ENST00000509277.1_In_Frame_Ins_p.787_788EC>EIC	p.954_955EC>EIC	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			23	2916_2917	+			954					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	In_Frame_Ins	INS	ENST00000313860.7	37	c.2862_2863insGAT	CCDS33977.1																																																																																				0.450	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		9	61						9	61	---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73526304	73526310	+	Frame_Shift_Del	DEL	CTCCCAC	CTCCCAC	-	rs150858705|rs377306326		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:73526304_73526310delCTCCCAC	ENST00000336180.2	+	12	1437_1443	c.1386_1392delCTCCCAC	c.(1384-1392)aactcccacfs	p.NSH462fs	LIMK1_ENST00000418310.1_Frame_Shift_Del_p.NSH492fs|LIMK1_ENST00000538333.3_Frame_Shift_Del_p.NSH428fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GAGACCTCAACTCCCACAACTGCCTGG	0.647																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1474-1482)aafs		LIM domain kinase 1																																				SO:0001589	frameshift_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73526304_73526310delCTCCCAC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1386_1392delCTCCCAC	7.37:g.73526304_73526310delCTCCCAC	ENSP00000336740:p.Asn462fs		Somatic				LIMK1_ENST00000538333.3_Frame_Shift_Del_p.NSH428fs|LIMK1_ENST00000336180.2_Frame_Shift_Del_p.NSH462fs	p.NSH492fs			WXS	Illumina GAIIx	Phase_I	P53667	LIMK1_HUMAN			12	1578_1584	+		Lung NSC(55;0.137)	462			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Del	DEL	ENST00000336180.2	37	c.1476_1482delCTCCCAC	CCDS5563.1																																																																																				0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		10	95						10	95	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	5						3	5	---	---	---	---
OR1J1	347168	broad.mit.edu	37	9	125239867	125239875	+	In_Frame_Del	DEL	GAAACTGTC	GAAACTGTC	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125239867_125239875delGAAACTGTC	ENST00000259357.2	-	1	360_368	c.331_339delGACAGTTTC	c.(331-339)gacagtttcdel	p.DSF111del	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGATAAGGAAACTGTCTAAGTCAGCA	0.435																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(331-339)del		olfactory receptor, family 1, subfamily J, member 1																																				SO:0001651	inframe_deletion	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239867_125239875delGAAACTGTC	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.331_339delGACAGTTTC	9.37:g.125239867_125239875delGAAACTGTC	ENSP00000259357:p.Asp111_Phe113del		Somatic					p.DSF111del	NM_001004451.1	NP_001004451.1	WXS	Illumina GAIIx	Phase_I	Q8NGS3	OR1J1_HUMAN			1	360_368	-			111					A3KFL8|Q6IF10|Q96R88	In_Frame_Del	DEL	ENST00000259357.2	37	c.331_339delGACAGTTTC	CCDS35120.1																																																																																				0.435	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			15	47						15	47	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs56394515|rs574346914	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:66321927_66321928insA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													|||unknown(HR)	1645	0.328474	0.4433	0.2493	5008	,	,		13398	0.3323		0.3549	False		,,,				2504	0.1984					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321938_66321938dupA			Somatic				ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	WXS	Illumina GAIIx	Phase_I	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		3	4						3	4	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579216	33579217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:33579216_33579217insG	ENST00000228567.3	-	2	661_662	c.365_366insC	c.(364-366)ccafs	p.P122fs	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	122					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTTACGGCTGGCTTTTCATT	0.391																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(364-366)cgcfs		synaptotagmin X																																				SO:0001589	frameshift_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579216_33579217insG	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.366dupC	12.37:g.33579218_33579218dupG	ENSP00000228567:p.Pro122fs		Somatic				SYT10_ENST00000535526.1_5'UTR	p.R122fs	NM_198992.3	NP_945343.1	WXS	Illumina GAIIx	Phase_I	Q6XYQ8	SYT10_HUMAN			2	661_662	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		122					Q495U2	Frame_Shift_Ins	INS	ENST00000228567.3	37	c.365_366insC	CCDS8732.1																																																																																				0.391	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		7	301						7	301	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111336801	111336811	+	Frame_Shift_Del	DEL	AGACCTTGGAT	AGACCTTGGAT	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:111336801_111336811delAGACCTTGGAT	ENST00000308208.5	+	10	1456_1466	c.1214_1224delAGACCTTGGAT	c.(1213-1224)aagaccttggatfs	p.KTLD405fs	CCDC63_ENST00000552694.1_Frame_Shift_Del_p.KTLD326fs|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.KTLD365fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	405								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAGGTCAGCAAGACCTTGGATCTATTGAAGA	0.512																																						ENST00000308208.5																			2	Substitution - Missense(2)	p.D408Y(2)	lung(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1213-1224)afs		coiled-coil domain containing 63																																				SO:0001589	frameshift_variant	160762							g.chr12:111336801_111336811delAGACCTTGGAT	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1214_1224delAGACCTTGGAT	12.37:g.111336801_111336811delAGACCTTGGAT	ENSP00000312399:p.Lys405fs		Somatic				CCDC63_ENST00000552694.1_Frame_Shift_Del_p.KTLD326fs|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.KTLD365fs	p.KTLD405fs	NM_152591.1	NP_689804.1	WXS	Illumina GAIIx	Phase_I	Q8NA47	CCD63_HUMAN			10	1456_1466	+			405					B4DY03|Q0P603|Q6P2E1	Frame_Shift_Del	DEL	ENST00000308208.5	37	c.1214_1224delAGACCTTGGAT	CCDS9151.1																																																																																				0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		21	94						21	94	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118598053	118598053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:118598053delG	ENST00000392533.3	-	19	2740	c.2250delC	c.(2248-2250)cacfs	p.H750fs	TAOK3_ENST00000419821.2_Frame_Shift_Del_p.H750fs|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Frame_Shift_Del_p.H290fs	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	750					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATTGTTTTGTGCTCATTCT	0.373																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(2248-2250)cafs		TAO kinase 3							305.0	268.0	281.0					12																	118598053		2203	4300	6503	SO:0001589	frameshift_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118598053delG	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2250delC	12.37:g.118598053delG	ENSP00000376317:p.His750fs		Somatic				TAOK3_ENST00000537952.1_Frame_Shift_Del_p.H290fs|TAOK3_ENST00000419821.2_Frame_Shift_Del_p.H750fs|TAOK3_ENST00000543709.1_5'UTR	p.H750fs	NM_016281.3	NP_057365.3	WXS	Illumina GAIIx	Phase_I	Q9H2K8	TAOK3_HUMAN			19	2740	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		750					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Frame_Shift_Del	DEL	ENST00000392533.3	37	c.2250delC	CCDS9188.1																																																																																				0.373	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		55	225						55	225	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs201590817|rs200042883		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.55																																						ENST00000583447.1																			0																																																			100131347							g.chr17:37213527_37213528insTTG																													17.37:g.37213527_37213528insTTG			Somatic						NR_036551.1		WXS	Illumina GAIIx	Phase_I					0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.550	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			3	6						3	6	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677424	37677424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:37677424delA	ENST00000532828.2	-	5	1266	c.1015delT	c.(1015-1017)tccfs	p.S339fs	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.S284fs|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAGGTTGGAATTATTGCTG	0.398																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1015-1017)ccfs		zinc finger protein 585B							167.0	153.0	158.0					19																	37677424		2203	4300	6503	SO:0001589	frameshift_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677424delA	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1015delT	19.37:g.37677424delA	ENSP00000433773:p.Ser339fs		Somatic				CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.S284fs|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	p.S339fs	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1266	-			339					Q8IZD3|Q96JW6	Frame_Shift_Del	DEL	ENST00000532828.2	37	c.1015delT	CCDS12500.1																																																																																				0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		52	186						52	186	---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35579886	35579886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:35579886delA	ENST00000262878.4	-	1	360	c.161delT	c.(160-162)ctcfs	p.L54fs	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	54	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACCGCGCCTGAGGAAGGAGCA	0.677																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(160-162)ccfs		SAM domain and HD domain 1							76.0	87.0	83.0					20																	35579886		2203	4300	6503	SO:0001589	frameshift_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35579886delA	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.161delT	20.37:g.35579886delA	ENSP00000262878:p.Leu54fs		Somatic				SAMHD1_ENST00000373694.5_5'UTR	p.L54fs	NM_015474.3	NP_056289.2	WXS	Illumina GAIIx	Phase_I	Q9Y3Z3	SAMH1_HUMAN			1	360	-		Myeloproliferative disorder(115;0.00878)	54			SAM.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Del	DEL	ENST00000262878.4	37	c.161delT	CCDS13288.1																																																																																				0.677	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		62	211						62	211	---	---	---	---
