#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:6257784_6257785insT	ENST00000234875.4	-	2	82_83	c.44_45insA	c.(43-45)aagfs	p.K15fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""																																	uc001amd.3				Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		1	Deletion - Frameshift(1)	p.K15fs*5(2)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(43-45)aagfs		Homo sapiens ribosomal protein L22 (RPL22), mRNA.																																				SO:0001589	frameshift_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257784_6257785insT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.45dupA	1.37:g.6257792_6257792dupT	ENSP00000346088:p.Lys15fs					RPL22_uc001ame.3_Frame_Shift_Ins_p.K15fs	p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	1	90_91	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	15					B2R495|Q6IBD1	Frame_Shift_Ins	INS	ENST00000234875.4	37	c.44_45insA	CCDS58.1																																																																																				0.401	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
ARHGEF10L	55160	broad.mit.edu	37	1	17990973	17990973	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:17990973C>T	ENST00000361221.3	+	26	3051	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	ARHGEF10L_ENST00000434513.1_Silent_p.P959P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.P925P|ARHGEF10L_ENST00000375408.3_Silent_p.P737P|ARHGEF10L_ENST00000167825.4_Silent_p.P667P|ARHGEF10L_ENST00000452522.1_Silent_p.P925P	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	964						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGAGCCCTCCCGTGTGCCTGA	0.692																																						uc001ban.3																			0		p.P964A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2890-2892)ccC>ccT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							37.0	39.0	38.0					1																	17990973		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17990973C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2892C>T	1.37:g.17990973C>T						ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.3_Silent_p.P925P|ARHGEF10L_uc001bap.3_Silent_p.P920P|ARHGEF10L_uc001baq.3_Silent_p.P725P|ARHGEF10L_uc010ocs.2_Silent_p.P737P|ARHGEF10L_uc001bar.3_Silent_p.P667P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	p.P964P	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	25	3051	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	964					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.2892C>T	CCDS182.1																																																																																				0.692	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	636						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACAGGATAGATGT	0.473																																						uc021oun.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73								Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.							10.0	11.0	11.0					1																	145311839		680	1587	2267	SO:0001583	missense	100132406							g.chr1:145311839A>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1088A>T	1.37:g.145311839A>T	ENSP00000358344:p.Gln363Leu					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021oul.1_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_5'UTR|NBPF10_uc010oyl.2_5'UTR|NBPF10_uc021oum.1_Intron|NBPF10_uc021ouo.1_5'Flank				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	0		+	all_hematologic(923;0.032)							Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37			.	.	.	.	.	.	.	.	.	.	.	0.003	-2.485476	0.00163	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.02656	4.21	0.711	-1.31	0.09230	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41342	-0.9514	6	0.02654	T	1	.	1.8806	0.03227	0.2946:0.0:0.2966:0.4088	rs58277049	.	.	.	L	363;40	ENSP00000358344:Q363L	ENSP00000358344:Q363L	Q	+	2	0	NBPF10	144023196	0.962000	0.33011	0.001000	0.08648	0.023000	0.10783	0.125000	0.15749	-2.764000	0.00368	-2.525000	0.00183	CAG		0.473	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703	
FLG	2312	broad.mit.edu	37	1	152276886	152276886	+	Silent	SNP	G	G	A	rs144901359		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152276886G>A	ENST00000368799.1	-	3	10511	c.10476C>T	c.(10474-10476)gaC>gaT	p.D3492D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3492	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTTCGTCATTACGAG	0.567									Ichthyosis																													uc001ezu.1																			0		p.D3492Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10474-10476)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.		C		1,4405		0,1,2202	289.0	282.0	284.0		10476	-5.2	0.0	1	dbSNP_134	284	0,8594		0,0,4297	no	coding-synonymous	FLG	NM_002016.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		3492/4062	152276886	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276886G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10476C>T	1.37:g.152276886G>A							p.D3492D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10512	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3492			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10476C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE2C	353140	broad.mit.edu	37	1	152648777	152648777	+	Missense_Mutation	SNP	C	C	A	rs199924989		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152648777C>A	ENST00000368783.1	+	2	341	c.286C>A	c.(286-288)Cct>Act	p.P96T	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	96	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAGTGAACCTTCTGGGGG	0.662																																						uc021ozc.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(286-288)Cct>Act		Homo sapiens late cornified envelope 2C (LCE2C), mRNA.		C	THR/PRO	1,4383		0,1,2191	32.0	40.0	37.0		286	-1.8	0.0	1		37	2,8546		0,2,4272	no	missense	LCE2C	NM_178429.2	38	0,3,6463	AA,AC,CC		0.0234,0.0228,0.0232	benign	96/111	152648777	3,12929	2192	4274	6466	SO:0001583	missense	353140				keratinization			g.chr1:152648777C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.286C>A	1.37:g.152648777C>A	ENSP00000357772:p.Pro96Thr					LCE2C_uc001fah.3_Missense_Mutation_p.P96T	p.P96T	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	286	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		96			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.286C>A	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.315024	0.05422	2.28E-4	2.34E-4	ENSG00000187180	ENST00000368783	T	0.03496	3.91	2.75	-1.78	0.07957	.	.	.	.	.	T	0.01156	0.0038	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47328	-0.9126	9	0.87932	D	0	.	0.5464	0.00655	0.1966:0.36:0.1923:0.2512	.	96	Q5TA81	LCE2C_HUMAN	T	96	ENSP00000357772:P96T	ENSP00000357772:P96T	P	+	1	0	LCE2C	150915401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.270000	0.08584	-0.595000	0.05828	-0.972000	0.02603	CCT		0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429	
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)Cga>Tga		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							74.0	75.0	75.0					1																	154062058		1891	4124	6015	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154062058G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2200C>T	1.37:g.154062058G>A	ENSP00000357547:p.Arg734*					NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.2200C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	39	7.522494	0.98335	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.57	4.57	0.56435	.	0.150747	0.30752	N	0.008943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-27.8864	15.3044	0.73982	0.0:0.0:1.0:0.0	.	.	.	.	X	734	.	ENSP00000271854:R734X	R	-	1	2	NUP210L	152328682	0.996000	0.38824	0.954000	0.39281	0.941000	0.58515	4.027000	0.57239	2.363000	0.80096	0.467000	0.42956	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
ARHGAP30	257106	broad.mit.edu	37	1	161023102	161023102	+	Missense_Mutation	SNP	C	C	T	rs149577194		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:161023102C>T	ENST00000368013.3	-	6	930	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.V204M|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V27M	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	204	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			ATGAACTCCACGACGATGGAT	0.562																																						uc001fxl.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.(610-612)Gtg>Atg		Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	160.0	113.0	129.0		610,610	4.2	0.0	1	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/1102,204/891	161023102	1,13005	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161023102C>T	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.610G>A	1.37:g.161023102C>T	ENSP00000356992:p.Val204Met					ARHGAP30_uc001fxk.3_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.3_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M	p.V204M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		5	956	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		204			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.610G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297994	0.81025	2.27E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.52983	2.56;2.56;0.64	5.16	4.25	0.50352	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.157522	0.41396	D	0.000891	T	0.63379	0.2506	M	0.87328	2.875	0.41933	D	0.990574	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.71391	-0.4607	10	0.87932	D	0	.	11.4536	0.50167	0.0:0.912:0.0:0.088	.	204;204	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	M	204;204;56;27	ENSP00000356995:V204M;ENSP00000356992:V204M;ENSP00000356994:V27M	ENSP00000356992:V204M	V	-	1	0	ARHGAP30	159289726	1.000000	0.71417	0.043000	0.18650	0.996000	0.88848	4.403000	0.59729	1.180000	0.42898	0.650000	0.86243	GTG		0.562	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720	
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:247607348C>T	ENST00000336119.3	+	7	3490	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	NLRP3_ENST00000391828.3_Missense_Mutation_p.T915M|NLRP3_ENST00000366497.2_Missense_Mutation_p.T858M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T801M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858M	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	915					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)	p.T915K(2)		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)			CAGAATCTCACGCACCTTTAC	0.512																																						uc001icr.3																			2	Substitution - Missense(2)	p.T915K(4)	lung(2)	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.(2743-2745)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							198.0	158.0	172.0					1																	247607348		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.chr1:247607348C>T	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.2744C>T	1.37:g.247607348C>T	ENSP00000337383:p.Thr915Met					NLRP3_uc001ics.3_Missense_Mutation_p.T858M|NLRP3_uc001icu.3_Missense_Mutation_p.T915M|NLRP3_uc001icw.3_Missense_Mutation_p.T858M|NLRP3_uc001icv.3_Missense_Mutation_p.T801M|NLRP3_uc010pyw.2_Missense_Mutation_p.T893M	p.T915M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	2882	+	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)	915					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2744C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665710	0.14710	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.06	2.18	0.27775	.	0.288524	0.25244	N	0.032074	T	0.72486	0.3466	M	0.69463	2.115	0.09310	N	0.999998	D;B;P;P;P	0.71674	0.998;0.386;0.56;0.879;0.768	D;B;B;B;B	0.64321	0.924;0.058;0.294;0.354;0.154	T	0.60239	-0.7302	10	0.48119	T	0.1	.	4.9262	0.13894	0.2096:0.6825:0.0:0.1078	.	895;858;801;858;915	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	915;858;915;801;858;858	ENSP00000375704:T915M;ENSP00000355453:T858M;ENSP00000337383:T915M;ENSP00000294752:T801M;ENSP00000355452:T858M;ENSP00000375703:T858M	ENSP00000337383:T915M	T	+	2	0	NLRP3	245673971	0.003000	0.15002	0.130000	0.21974	0.583000	0.36354	-0.426000	0.07008	0.664000	0.31047	0.549000	0.68633	ACG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
PTEN	5728	broad.mit.edu	37	10	89720738	89720738	+	Frame_Shift_Del	DEL	G	G	-	rs267602610|rs370064195		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr10:89720738delG	ENST00000371953.3	+	8	2246	c.889delG	c.(889-891)gatfs	p.D297fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	297	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.C296fs*1(1)|p.G165_*404del(1)|p.C296fs*11(1)|p.G165_K342del(1)|p.C296*(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(889-891)gatfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							87.0	87.0	87.0					10																	89720738		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720738delG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.889delG	10.37:g.89720738delG	ENSP00000361021:p.Asp297fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D297fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1921	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	297			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.889delG	CCDS31238.1																																																																																				0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR8K3	219473	broad.mit.edu	37	11	56086620	56086620	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:56086620G>T	ENST00000312711.1	+	1	838	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACACCCTGGTTATCCCCAT	0.378																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(838-840)Gtt>Ttt		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							84.0	74.0	77.0					11																	56086620		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086620G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.838G>T	11.37:g.56086620G>T	ENSP00000323555:p.Val280Phe						p.V280F	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	838	+	Esophageal squamous(21;0.00448)		280					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.838G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	9.843	1.191489	0.21954	.	.	ENSG00000181689	ENST00000312711	T	0.00281	8.32	4.18	-2.38	0.06622	GPCR, rhodopsin-like superfamily (1);	0.123718	0.36234	N	0.002715	T	0.00440	0.0014	M	0.78456	2.415	0.09310	N	1	D	0.59767	0.986	D	0.69824	0.966	T	0.48080	-0.9066	10	0.87932	D	0	.	5.109	0.14800	0.5299:0.0:0.3247:0.1453	.	280	Q8NH51	OR8K3_HUMAN	F	280	ENSP00000323555:V280F	ENSP00000323555:V280F	V	+	1	0	OR8K3	55843196	0.979000	0.34478	0.001000	0.08648	0.006000	0.05464	0.923000	0.28757	-0.593000	0.05844	0.471000	0.43371	GTT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:58034677C>A	ENST00000395079.2	-	1	1055	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572																																						uc001nmq.1																			2	Substitution - Missense(2)	p.K218N(4)	lung(2)	kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(652-654)aaG>aaT		Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.							85.0	81.0	82.0					11																	58034677		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034677C>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.654G>T	11.37:g.58034677C>A	ENSP00000378516:p.Lys218Asn						p.K218N	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			0	1056	-		Breast(21;0.0589)	218					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.654G>T	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107379	0.20714	.	.	ENSG00000172772	ENST00000395079	T	0.00183	8.6	5.65	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.615343	0.14839	N	0.295401	T	0.00241	0.0007	M	0.72576	2.205	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34329	-0.9833	10	0.66056	D	0.02	.	8.3552	0.32327	0.0:0.566:0.2812:0.1528	.	218	Q8NGF6	O10W1_HUMAN	N	218	ENSP00000378516:K218N	ENSP00000378516:K218N	K	-	3	2	OR10W1	57791253	0.000000	0.05858	0.050000	0.19076	0.409000	0.31022	-0.740000	0.04861	0.685000	0.31468	0.655000	0.94253	AAG		0.572	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374	
OR4D5	219875	broad.mit.edu	37	11	123811000	123811000	+	Missense_Mutation	SNP	G	G	A	rs142766960	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:123811000G>A	ENST00000307033.2	+	1	751	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(676-678)cGa>cAa		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.							217.0	195.0	203.0					11																	123811000		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811000G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.677G>A	11.37:g.123811000G>A	ENSP00000305970:p.Arg226Gln						p.R226Q	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	677	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	226					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.677G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584518	0.28268	.	.	ENSG00000171014	ENST00000307033	T	0.00231	8.49	5.49	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001138	T	0.00210	0.0006	M	0.62209	1.925	0.09310	N	0.999998	B	0.33212	0.402	B	0.35278	0.199	T	0.26292	-1.0107	10	0.56958	D	0.05	-1.0E-4	7.9556	0.30040	0.3817:0.0:0.6183:0.0	.	226	Q8NGN0	OR4D5_HUMAN	Q	226	ENSP00000305970:R226Q	ENSP00000305970:R226Q	R	+	2	0	OR4D5	123316210	0.000000	0.05858	0.999000	0.59377	0.491000	0.33493	-0.272000	0.08560	0.695000	0.31675	-0.145000	0.13849	CGA		0.507	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
LRIG3	121227	broad.mit.edu	37	12	59272793	59272793	+	Silent	SNP	G	G	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:59272793G>T	ENST00000320743.3	-	14	2182	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	LRIG3_ENST00000379141.4_Silent_p.P572P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	632	Ig-like C2-type 2.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGCTATCTGGGGGGCTGGGT	0.597			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)ccC>ccA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.							60.0	50.0	53.0					12																	59272793		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59272793G>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1896C>A	12.37:g.59272793G>T						LRIG3_uc009zqh.3_Silent_p.P572P|LRIG3_uc010ssh.2_Non-coding_Transcript	p.P632P	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2142	-			632			Ig-like C2-type 2.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1896C>A	CCDS8960.1																																																																																				0.597	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
NAV3	89795	broad.mit.edu	37	12	78582438	78582438	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:78582438A>C	ENST00000397909.2	+	33	6109	c.5936A>C	c.(5935-5937)gAc>gCc	p.D1979A	NAV3_ENST00000228327.6_Missense_Mutation_p.D1957A|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.D1957A|NAV3_ENST00000266692.7_Missense_Mutation_p.D1780A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1979						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGAGCTCTGACTGCATTGCT	0.388										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5935-5937)gAc>gCc		Homo sapiens neuron navigator 3 (NAV3), mRNA.							129.0	123.0	125.0					12																	78582438		1914	4141	6055	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582438A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5936A>C	12.37:g.78582438A>C	ENSP00000381007:p.Asp1979Ala	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.D1957A|NAV3_uc010sub.2_Missense_Mutation_p.D1436A|NAV3_uc009zsf.3_Missense_Mutation_p.D788A	p.D1979A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			32	6109	+			1979					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5936A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.766077|4.766077	0.90020|0.90020	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.63;1.61;1.63;1.58;2.46|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.42294|.	U|.	0.000729|.	T|.	0.72637|.	0.3485|.	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;0.998;0.998|.	T|.	0.71331|.	-0.4625|.	10|.	0.87932|.	D|.	0|.	-16.8148|-16.8148	16.4288|16.4288	0.83833|0.83833	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1957;1780;1979;1957|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	A|C	1957;1979;1957;1780;571;579|851	ENSP00000446132:D1957A;ENSP00000381007:D1979A;ENSP00000228327:D1957A;ENSP00000266692:D1780A;ENSP00000448303:D579A|.	ENSP00000228327:D1957A|.	D|X	+|+	2|3	0|0	NAV3|NAV3	77106569|77106569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.262000|9.262000	0.95591|0.95591	2.282000|2.282000	0.76494|0.76494	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PLEKHG7	440107	broad.mit.edu	37	12	93148040	93148040	+	Splice_Site	SNP	C	C	T	rs115752910		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:93148040C>T	ENST00000344636.3	+	6	674	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	164	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAGTCCATCCGTAAGTCCCT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		23839	0.001		0.0	False		,,,				2504	0.0					uc001tcj.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.e6+1		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.							77.0	70.0	72.0					12																	93148040		2203	4300	6503	SO:0001630	splice_region_variant	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93148040C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.490+1C>T	12.37:g.93148040C>T							p.R164_splice	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			6	720	+			164			DH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.490_splice	CCDS31873.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.84	2.059765	0.36373	.	.	ENSG00000187510	ENST00000344636	T	0.69175	-0.38	5.4	-1.32	0.09201	Dbl homology (DH) domain (3);	0.259409	0.42053	D	0.000762	T	0.45397	0.1340	L	0.42245	1.32	0.26651	N	0.972109	B	0.33964	0.434	B	0.28305	0.088	T	0.30534	-0.9975	10	0.45353	T	0.12	-23.4536	1.6979	0.02866	0.2178:0.4311:0.0998:0.2512	.	164	Q6ZR37	PKHG7_HUMAN	W	164	ENSP00000344961:R164W	ENSP00000344961:R164W	R	+	1	2	PLEKHG7	91672171	0.381000	0.25140	0.124000	0.21820	0.875000	0.50365	-0.012000	0.12699	-0.268000	0.09312	0.491000	0.48974	CGG		0.438	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330	Missense_Mutation
STAB2	55576	broad.mit.edu	37	12	104014256	104014256	+	Silent	SNP	T	T	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:104014256T>G	ENST00000388887.2	+	4	546	c.342T>G	c.(340-342)ggT>ggG	p.G114G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGCCCAGGTGGAGCGGGGT	0.493																																						uc001tjw.3																			0		p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(340-342)ggT>ggG		Homo sapiens stabilin 2 (STAB2), mRNA.							90.0	76.0	81.0					12																	104014256		2202	4297	6499	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104014256T>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.342T>G	12.37:g.104014256T>G							p.G114G	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			3	528	+			114			EGF-like 1.			Silent	SNP	ENST00000388887.2	37	c.342T>G	CCDS31888.1																																																																																				0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
GPR133	283383	broad.mit.edu	37	12	131622720	131622720	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:131622720G>A	ENST00000261654.5	+	24	3034	c.2475G>A	c.(2473-2475)tcG>tcA	p.S825S	GPR133_ENST00000543617.1_Silent_p.S344S|GPR133_ENST00000535015.1_Silent_p.S857S|GPR133_ENST00000376682.4_Silent_p.S511S|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	825					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGTCTGGTCGCTCACGAGCA	0.597																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2569-2571)tcG>tcA		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							93.0	74.0	81.0					12																	131622720		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622720G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2475G>A	12.37:g.131622720G>A						GPR133_uc001uit.4_Silent_p.S825S|GPR133_uc009zyo.3_Silent_p.S107S|GPR133_uc009zyp.3_Non-coding_Transcript	p.S857S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3130	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		825					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2571G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079603	0.20309	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.63	3.74	0.42951	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53486	-0.8432	4	.	.	.	.	7.9051	0.29757	0.1818:0.6385:0.1798:0.0	.	.	.	.	H	179	.	.	R	+	2	0	GPR133	130188673	0.998000	0.40836	0.998000	0.56505	0.934000	0.57294	0.374000	0.20501	0.932000	0.37266	-0.234000	0.12200	CGC		0.597	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
BIVM	54841	broad.mit.edu	37	13	103474461	103474462	+	Frame_Shift_Ins	INS	-	-	A	rs375743756		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr13:103474461_103474462insA	ENST00000257336.1	+	7	1532_1533	c.853_854insA	c.(853-855)tatfs	p.Y285fs	RNY5P8_ENST00000410369.1_RNA|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.C257fs|BIVM_ENST00000419638.1_Frame_Shift_Ins_p.Y285fs|BIVM_ENST00000448849.2_Frame_Shift_Ins_p.Y56fs	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	285						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGATGCTCTTATGTTCTATAT	0.361																																						uc001vpu.2																			0											c.(853-855)tatfs		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.																																				SO:0001589	frameshift_variant	2073				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103474461_103474462insA	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.854dupA	13.37:g.103474462_103474462dupA	ENSP00000257336:p.Tyr285fs					BIVM-ERCC5_uc001vps.3_Frame_Shift_Ins_p.Y285fs|BIVM-ERCC5_uc010agc.3_Frame_Shift_Ins_p.Y56fs|BIVM-ERCC5_uc001vpv.3_Frame_Shift_Ins_p.Y56fs	p.Y285fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			4	975_976	+			256					Q2M1J2|Q9NXM4	Frame_Shift_Ins	INS	ENST00000257336.1	37	c.853_854insA	CCDS9505.1																																																																																				0.361	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
FUT8	2530	broad.mit.edu	37	14	66028372	66028372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:66028372C>T	ENST00000360689.5	+	3	1818	c.91C>T	c.(91-93)Cga>Tga	p.R31*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R31*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R31*|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000358307.2_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	31					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCACTTGGTACGAGATAATGA	0.458																																						uc001xin.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(91-93)Cga>Tga		Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.							150.0	145.0	147.0					14																	66028372		2203	4300	6503	SO:0001587	stop_gained	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028372C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.91C>T	14.37:g.66028372C>T	ENSP00000353910:p.Arg31*					FUT8_uc001xio.3_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.3_Intron	p.R31*	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	2	1818	+			31					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	c.91C>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196759	0.98701	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000555559;ENST00000394585;ENST00000557338;ENST00000554610;ENST00000554667	.	.	.	5.85	5.85	0.93711	.	0.120497	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.6346	17.6515	0.88165	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000345865:R31X	R	+	1	2	FUT8	65098125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.686000	0.46968	2.767000	0.95098	0.655000	0.94253	CGA		0.458	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	
AK7	122481	broad.mit.edu	37	14	96917806	96917806	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:96917806T>C	ENST00000267584.4	+	10	1041	c.997T>C	c.(997-999)Ttt>Ctt	p.F333L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	333					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAAGCGCTCTTTGTGAAGGA	0.368																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(997-999)Ttt>Ctt		Homo sapiens adenylate kinase 7 (AK7), mRNA.							86.0	84.0	85.0					14																	96917806		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96917806T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.997T>C	14.37:g.96917806T>C	ENSP00000267584:p.Phe333Leu						p.F333L	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	9	1041	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	333					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.997T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820344	0.32145	.	.	ENSG00000140057	ENST00000267584	T	0.59502	0.26	5.72	3.36	0.38483	.	0.403473	0.29631	N	0.011606	T	0.44329	0.1288	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.31530	-0.9940	10	0.34782	T	0.22	-7.1215	5.7324	0.18047	0.2606:0.0726:0.0:0.6668	.	333	Q96M32	KAD7_HUMAN	L	333	ENSP00000267584:F333L	ENSP00000267584:F333L	F	+	1	0	AK7	95987559	0.028000	0.19301	0.003000	0.11579	0.667000	0.39255	2.154000	0.42291	0.443000	0.26582	0.533000	0.62120	TTT		0.368	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
GOLGA8CP	729786	broad.mit.edu	37	15	20776109	20776109	+	RNA	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr15:20776109T>A	ENST00000408427.1	+	0	0				RN7SL759P_ENST00000485130.2_RNA																							TAGGAGCGCCTGGAAGCTGCC	0.637																																						uc010tzc.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						c.(604-606)cTg>cAg		Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.																																						729786							g.chr15:20776109T>A																													15.37:g.20776109T>A						JA429730_uc021sfa.1_5'Flank	p.L202Q							12	1620	+									Missense_Mutation	SNP	ENST00000408427.1	37	c.605T>A																																																																																					0.637	AC131280.1-201	NOVEL	basic	miRNA	miRNA			
CREBBP	1387	broad.mit.edu	37	16	3842056	3842056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:3842056C>T	ENST00000262367.5	-	5	2065	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	419					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGTTCTTCCAATGAGAGAT	0.428			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1255-1257)tGg>tAg		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							157.0	136.0	143.0					16																	3842056		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3842056C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1256G>A	16.37:g.3842056C>T	ENSP00000262367:p.Trp419*					CREBBP_uc002cvw.3_Intron	p.W419*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1460	-		Ovarian(90;0.0266)	419					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.1256G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	46	12.431506	0.99667	.	.	ENSG00000005339	ENST00000262367	.	.	.	5.91	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9975	16.3448	0.83120	0.1332:0.8668:0.0:0.0	.	.	.	.	X	419	.	ENSP00000262367:W419X	W	-	2	0	CREBBP	3782057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.463000	0.47967	0.655000	0.94253	TGG		0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CIITA	4261	broad.mit.edu	37	16	11000852	11000852	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:11000852C>T	ENST00000324288.8	+	11	1636	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	501	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TAGACGGCTTCGAGGAGCTGG	0.647			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1504-1506)ttC>ttT		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.							65.0	69.0	67.0					16																	11000852		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000852C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1503C>T	16.37:g.11000852C>T						CIITA_uc002dai.4_Silent_p.F501F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron	p.F502F	NM_000246	NP_000237	P33076	C2TA_HUMAN			10	1639	+			501			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1506C>T	CCDS10544.1																																																																																				0.647	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
PRKCB	5579	broad.mit.edu	37	16	24166139	24166139	+	Silent	SNP	G	G	A	rs141827066	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:24166139G>A	ENST00000321728.7	+	10	1375	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_ENST00000303531.7_Silent_p.P400P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P400P(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567																																						uc002dmd.3																			3	Substitution - coding silent(3)	p.P400P(4)	cervix(2)|central_nervous_system(1)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1198-1200)ccG>ccA		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						116.0	86.0	96.0					16																	24166139		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166139G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1200G>A	16.37:g.24166139G>A						PRKCB_uc002dme.3_Silent_p.P400P	p.P400P	NM_212535	NP_997700	P05771	KPCB_HUMAN			9	1397	+			400			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1200G>A	CCDS10618.1																																																																																				0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
LCMT1	51451	broad.mit.edu	37	16	25143735	25143735	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:25143735G>A	ENST00000399069.3	+	3	373	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	LCMT1_ENST00000380966.4_Missense_Mutation_p.R73Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	73					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TATTTTGCTCGAGTCCATGGT	0.488																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.(217-219)cGa>cAa		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						113.0	107.0	109.0					16																	25143735		1956	4141	6097	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143735G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.218G>A	16.37:g.25143735G>A	ENSP00000382021:p.Arg73Gln					LCMT1_uc002dny.1_Missense_Mutation_p.R73Q	p.R73Q	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	2	376	+			73					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.218G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731394	0.89390	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.59224	0.28;0.28	5.51	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83659	0.0160	10	0.87932	D	0	-12.2829	9.4219	0.38557	0.0792:0.1444:0.7764:0.0	.	73;73	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	Q	73;73;90	ENSP00000382021:R73Q;ENSP00000370353:R73Q	ENSP00000370349:R90Q	R	+	2	0	LCMT1	25051236	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	8.729000	0.91490	0.691000	0.31592	0.655000	0.94253	CGA		0.488	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						uc002edh.1																			0											c.(262-264)aaA>aaC		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_Non-coding_Transcript	p.K88N							4	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2		
MYH2	4620	broad.mit.edu	37	17	10427836	10427836	+	Missense_Mutation	SNP	C	C	T	rs147813930		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:10427836C>T	ENST00000245503.5	-	35	5506	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	MYH2_ENST00000397183.2_Missense_Mutation_p.A1708T|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1708					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGTTCTGCGATTTTTCTG	0.547																																						uc010coi.3																			0		p.I1707I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5122-5124)Gca>Aca		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	101.0	98.0	99.0		5122,5122	5.3	1.0	17	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	1708/1942,1708/1942	10427836	3,13003	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427836C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5122G>A	17.37:g.10427836C>T	ENSP00000245503:p.Ala1708Thr					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1708T|MYH2_uc010coj.3_Intron	p.A1708T	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			34	5250	-			1708					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5122G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466005	0.84425	0.0	3.49E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83837	-1.77;-1.77	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.39020	U	0.001489	D	0.89677	0.6784	H	0.94734	3.575	0.80722	D	1	P	0.39759	0.687	B	0.41646	0.362	D	0.91792	0.5444	10	0.62326	D	0.03	.	19.1555	0.93509	0.0:1.0:0.0:0.0	.	1708	Q9UKX2	MYH2_HUMAN	T	1708	ENSP00000245503:A1708T;ENSP00000380367:A1708T	ENSP00000245503:A1708T	A	-	1	0	MYH2	10368561	1.000000	0.71417	0.993000	0.49108	0.634000	0.38068	7.563000	0.82314	2.755000	0.94549	0.491000	0.48974	GCA		0.547	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
KRT16	3868	broad.mit.edu	37	17	39767641	39767641	+	Missense_Mutation	SNP	C	C	T	rs370377321		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:39767641C>T	ENST00000301653.4	-	3	791	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	243	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTTCAGGCCTTCGATCTGC	0.642																																						uc002hxg.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(727-729)Ggc>Agc		Homo sapiens keratin 16 (KRT16), mRNA.		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	79.0	77.0	77.0		727	-7.1	0.0	17		77	0,8600		0,0,4300	no	missense	KRT16	NM_005557.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	243/474	39767641	1,13005	2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767641C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.727G>A	17.37:g.39767641C>T	ENSP00000301653:p.Gly243Ser					JUP_uc010wfs.2_Intron	p.G243S	NM_005557	NP_005548	P08779	K1C16_HUMAN			2	866	-		Breast(137;0.000307)	243			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.727G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111709	0.06881	2.27E-4	0.0	ENSG00000186832	ENST00000301653	D	0.86230	-2.09	4.63	-7.11	0.01542	Filament (1);	0.649555	0.14373	N	0.323645	T	0.56963	0.2021	N	0.00424	-1.51	0.09310	N	1	B	0.11235	0.004	B	0.22753	0.041	T	0.55444	-0.8140	10	0.02654	T	1	.	17.7906	0.88551	0.0:0.6723:0.0:0.3277	.	243	P08779	K1C16_HUMAN	S	243	ENSP00000301653:G243S	ENSP00000301653:G243S	G	-	1	0	KRT16	37021167	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	-1.308000	0.02730	-1.651000	0.01504	-0.367000	0.07326	GGC		0.642	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
KIF2B	84643	broad.mit.edu	37	17	51900949	51900949	+	Silent	SNP	C	C	T	rs369155067		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:51900949C>T	ENST00000268919.4	+	1	711	c.555C>T	c.(553-555)taC>taT	p.Y185Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	185					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCCCAACTACGAAATCATGC	0.562																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(553-555)taC>taT		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							76.0	68.0	70.0					17																	51900949		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900949C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.555C>T	17.37:g.51900949C>T						KIF2B_uc010wna.1_Non-coding_Transcript	p.Y185Y	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	711	+			185					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.555C>T	CCDS32685.1																																																																																				0.562	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ANKFN1	162282	broad.mit.edu	37	17	54452045	54452045	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:54452045G>A	ENST00000318698.2	+	7	924	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V297I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	297	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCCTCTTAGCGTCAATGCAGC	0.458																																						uc002iun.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(889-891)Gtc>Atc		Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.							186.0	166.0	173.0					17																	54452045		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452045G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.889G>A	17.37:g.54452045G>A	ENSP00000321627:p.Val297Ile						p.V297I	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	924	+			297			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.889G>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528484	0.27299	.	.	ENSG00000153930	ENST00000318698	T	0.57436	0.4	5.51	2.41	0.29592	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.440619	0.26492	N	0.024067	T	0.41994	0.1183	L	0.52364	1.645	0.32171	N	0.581609	B	0.06786	0.001	B	0.08055	0.003	T	0.43861	-0.9365	10	0.18276	T	0.48	-1.1929	10.0473	0.42195	0.2733:0.0:0.7267:0.0	.	297	Q8N957	ANKF1_HUMAN	I	297	ENSP00000321627:V297I	ENSP00000321627:V297I	V	+	1	0	ANKFN1	51807044	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	1.425000	0.34859	0.378000	0.24764	-0.152000	0.13540	GTC		0.458	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
CEP112	201134	broad.mit.edu	37	17	63848135	63848135	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:63848135C>T	ENST00000392769.2	-	21	2399	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Silent_p.E362E|CEP112_ENST00000537949.1_Silent_p.E685E|CEP112_ENST00000535342.2_Silent_p.E727E	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	727					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAACCTGGGCCTCCATGTCGG	0.418																																						uc002jfl.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2179-2181)gaG>gaA		Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.							65.0	61.0	62.0					17																	63848135		2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63848135C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2181G>A	17.37:g.63848135C>T						CEP112_uc010deo.3_Silent_p.E469E|CEP112_uc002jfm.3_Silent_p.E727E|CEP112_uc010dep.2_Silent_p.E685E	p.E727E	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN			20	2400	-			727					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2181G>A	CCDS32710.1																																																																																				0.418	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
MC5R	4161	broad.mit.edu	37	18	13826256	13826256	+	Silent	SNP	C	C	T	rs45575841		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr18:13826256C>T	ENST00000324750.3	+	1	714	c.492C>T	c.(490-492)gcC>gcT	p.A164A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	164					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCATCGCCGGCATCTGGG	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21976	0.0		0.0	False		,,,				2504	0.0					uc010xaf.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(490-492)gcC>gcT		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	256.0	234.0	242.0		492	-10.0	0.0	18	dbSNP_127	242	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous	MC5R	NM_005913.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		164/326	13826256	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826256C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.492C>T	18.37:g.13826256C>T							p.A164A	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	714	+			164					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.492C>T	CCDS11868.1																																																																																				0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
CERS4	79603	broad.mit.edu	37	19	8320541	8320541	+	Silent	SNP	C	C	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:8320541C>G	ENST00000251363.5	+	5	642	c.342C>G	c.(340-342)acC>acG	p.T114T	CERS4_ENST00000558331.1_Silent_p.T63T|CERS4_ENST00000559336.1_Silent_p.T114T|CERS4_ENST00000559450.1_Silent_p.T114T|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	114					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGCAGCAGACCCAGCGATGGT	0.652																																						uc002mjg.3																			0											c.(340-342)acC>acG		Homo sapiens ceramide synthase 4 (CERS4), mRNA.							30.0	34.0	32.0					19																	8320541		2203	4300	6503	SO:0001819	synonymous_variant	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8320541C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.342C>G	19.37:g.8320541C>G						CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Silent_p.T114T	p.T114T	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			4	662	+			114					D6W665	Silent	SNP	ENST00000251363.5	37	c.342C>G	CCDS12197.1																																																																																				0.652	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552	
CYP4F2	8529	broad.mit.edu	37	19	15990424	15990424	+	Missense_Mutation	SNP	G	G	A	rs550261161		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:15990424G>A	ENST00000221700.6	-	11	1399	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCAGGGTCCGGCCACACAGC	0.567													.|||	1	0.000199681	0.0	0.0	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.001					uc002nbs.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1303-1305)cCg>cTg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.							102.0	111.0	108.0					19																	15990424		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990424G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1304C>T	19.37:g.15990424G>A	ENSP00000221700:p.Pro435Leu					CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	p.P435L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			10	1354	-			435						Missense_Mutation	SNP	ENST00000221700.6	37	c.1304C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.918004	0.52546	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72394	-0.65	2.78	2.78	0.32641	.	0.085567	0.46442	U	0.000291	D	0.84065	0.5390	M	0.89601	3.045	0.80722	D	1	D	0.61697	0.99	D	0.66351	0.943	D	0.86736	0.1951	10	0.72032	D	0.01	.	11.279	0.49184	0.0:0.0:1.0:0.0	.	435	P78329	CP4F2_HUMAN	L	435;286	ENSP00000221700:P435L	ENSP00000221700:P435L	P	-	2	0	CYP4F2	15851424	1.000000	0.71417	0.975000	0.42487	0.441000	0.31987	3.764000	0.55264	1.528000	0.49103	0.491000	0.48974	CCG		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
TAF1B	9014	broad.mit.edu	37	2	9994457	9994457	+	Silent	SNP	C	C	T	rs376441869		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:9994457C>T	ENST00000263663.5	+	5	494	c.306C>T	c.(304-306)aaC>aaT	p.N102N	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	102	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCTTAGAACGATGTTTTAC	0.408																																						uc002qzz.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(304-306)aaC>aaT		Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.		C		0,4406		0,0,2203	134.0	129.0	131.0		306	4.2	1.0	2		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF1B	NM_005680.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/589	9994457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9994457C>T	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.306C>T	2.37:g.9994457C>T						TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.4_Silent_p.N102N|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	p.N102N	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			4	406	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		102					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.306C>T	CCDS33143.1																																																																																				0.408	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680	
OTOF	9381	broad.mit.edu	37	2	26705441	26705441	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:26705441T>C	ENST00000272371.2	-	14	1538	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R	OTOF_ENST00000403946.3_Missense_Mutation_p.K471R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	471	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCTCTTCTGCACTGA	0.577																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.3																			0		p.Q470*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1411-1413)aAg>aGg		Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.							83.0	79.0	80.0					2																	26705441		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26705441T>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1412A>G	2.37:g.26705441T>C	ENSP00000272371:p.Lys471Arg						p.K471R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		471			C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1412A>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247157	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.70631	-0.5;-0.5	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	L	0.37507	1.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.74535	-0.3633	10	0.30078	T	0.28	-21.3599	14.6043	0.68466	0.0:0.0:0.0:1.0	.	471	Q9HC10	OTOF_HUMAN	R	471	ENSP00000272371:K471R;ENSP00000385255:K471R	ENSP00000272371:K471R	K	-	2	0	OTOF	26558945	1.000000	0.71417	0.961000	0.40146	0.868000	0.49771	6.243000	0.72384	1.941000	0.56285	0.459000	0.35465	AAG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
BIRC6	57448	broad.mit.edu	37	2	32695356	32695356	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:32695356T>A	ENST00000421745.2	+	31	6602	c.6468T>A	c.(6466-6468)caT>caA	p.H2156Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2156					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACCCATGCATAGGAGGACAG	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(6466-6468)caT>caA		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							58.0	55.0	56.0					2																	32695356		2200	4294	6494	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32695356T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6468T>A	2.37:g.32695356T>A	ENSP00000393596:p.His2156Gln						p.H2156Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			30	6602	+	Acute lymphoblastic leukemia(172;0.155)		2156					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6468T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265188	0.23136	.	.	ENSG00000115760	ENST00000421745	T	0.72615	-0.67	4.9	2.54	0.30619	.	0.273071	0.36628	N	0.002499	T	0.31575	0.0801	N	0.00707	-1.245	0.29804	N	0.832191	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	10	0.11485	T	0.65	.	6.9018	0.24286	0.0:0.3247:0.0:0.6753	.	2156	Q9NR09	BIRC6_HUMAN	Q	2156	ENSP00000393596:H2156Q	ENSP00000393596:H2156Q	H	+	3	2	BIRC6	32548860	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.918000	0.28678	0.735000	0.32537	0.477000	0.44152	CAT		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
TET3	200424	broad.mit.edu	37	2	74275488	74275489	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:74275488_74275489delAC	ENST00000409262.3	+	1	2039_2040	c.2039_2040delAC	c.(2038-2040)gacfs	p.D680fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	680					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTGCTGGACACACCTGCCA	0.604																																						uc002skb.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2038-2040)gacfs		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.																																				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275488_74275489delAC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2039_2040delAC	2.37:g.74275492_74275493delAC	ENSP00000386869:p.Asp680fs					TET3_uc010fez.2_Frame_Shift_Del_p.D680fs	p.D680fs	NM_144993	NP_659430	O43151	TET3_HUMAN			0	2039_2040	+			680					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.2039_2040delAC	CCDS46339.1																																																																																				0.604	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
POTEE	445582	broad.mit.edu	37	2	132021710	132021710	+	Silent	SNP	C	C	T	rs373327651		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:132021710C>T	ENST00000356920.5	+	15	2776	c.2682C>T	c.(2680-2682)acC>acT	p.T894T	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	894	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGATCCTCACCGAGCGTGGCT	0.587																																						uc002tsn.2																			0											c.(2680-2682)acC>acT		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.		C		1,4405		0,1,2202	42.0	43.0	43.0		2682		0.2	2		43	2,8560		0,2,4279	no	coding-synonymous	POTEE	NM_001083538.1		0,3,6481	TT,TC,CC		0.0234,0.0227,0.0231		894/1076	132021710	3,12965	2203	4281	6484	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021710C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2682C>T	2.37:g.132021710C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T	p.T894T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			14	2734	+			894			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2682C>T	CCDS46414.1																																																																																				0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
LOC401010	401010	broad.mit.edu	37	2	132201557	132201557	+	IGR	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:132201557C>T								AC073869.19 (34935 upstream) : RP11-109E12.1 (17836 downstream)																							GTGCTCCATACGACCACCATT	0.602																																						uc002tst.2																			0											c.(445-447)Gta>Ata		Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																																				SO:0001628	intergenic_variant	401010							g.chr2:132201557C>T																													2.37:g.132201557C>T							p.V149I							0	911	-									Missense_Mutation	SNP		37	c.445G>A																																																																																				0	0.602								
MYO1B	4430	broad.mit.edu	37	2	192275792	192275792	+	Splice_Site	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:192275792T>C	ENST00000392318.3	+	27	3014	c.2767T>C	c.(2767-2769)Tgt>Cgt	p.C923R	MYO1B_ENST00000392316.1_Splice_Site_p.C894R|MYO1B_ENST00000339514.4_Splice_Site_p.C865R|MYO1B_ENST00000304164.4_Splice_Site_p.C923R|MYO1B_ENST00000439065.2_Splice_Site_p.C168R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	923					actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TATCTCACAGTGTAAAAAATA	0.308																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e27-1		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							63.0	69.0	67.0					2																	192275792		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192275792T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2767-1T>C	2.37:g.192275792T>C						MYO1B_uc002usq.2_Splice_Site_p.C865_splice|MYO1B_uc002usr.2_Splice_Site_p.C923_splice|MYO1B_uc002usu.2_Splice_Site_p.C168_splice	p.C923_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		27	3022	+			923					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2767_splice	CCDS46477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.010056|4.010056	0.75046|0.75046	.|.	.|.	ENSG00000128641|ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065|ENST00000427152	D;D;D;D;T|.	0.88124|.	-2.3;-2.34;-2.34;-2.34;0.14|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74374|0.74374	0.3708|0.3708	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	P;D;D|.	0.77004|.	0.88;0.985;0.989|.	T|T	0.74822|0.74822	-0.3534|-0.3534	10|5	0.52906|.	T|.	0.07|.	.|.	14.7708|14.7708	0.69675|0.69675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168;923;865|.	E7EPB4;O43795;O43795-2|.	.;MYO1B_HUMAN;.|.	R|A	865;923;923;894;168|1	ENSP00000341903:C865R;ENSP00000376132:C923R;ENSP00000306382:C923R;ENSP00000376130:C894R;ENSP00000391442:C168R|.	ENSP00000306382:C923R|.	C|V	+|+	1|2	0|0	MYO1B|MYO1B	191984037|191984037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.186000|7.186000	0.77722|0.77722	2.285000|2.285000	0.76669|0.76669	0.528000|0.528000	0.53228|0.53228	TGT|GTG		0.308	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Missense_Mutation
MATN4	8785	broad.mit.edu	37	20	43929967	43929967	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:43929967A>G	ENST00000372754.1	-	4	891	c.883T>C	c.(883-885)Tgc>Cgc	p.C295R	MATN4_ENST00000372756.1_Missense_Mutation_p.C254R|MATN4_ENST00000342716.4_Missense_Mutation_p.C254R|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.C254R|MATN4_ENST00000360607.6_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.C105R			O95460	MATN4_HUMAN	matrilin 4	295					extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCACCCCTGCAGCTCCTCTGG	0.587											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(760-762)Tgc>Cgc		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							95.0	100.0	98.0					20																	43929967		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43929967A>G	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.883T>C	20.37:g.43929967A>G	ENSP00000361840:p.Cys295Arg		OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	p.C254R	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	947	-		Myeloproliferative disorder(115;0.0122)	295			EGF-like 1; incomplete.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.760T>C		.	.	.	.	.	.	.	.	.	.	A	24.2	4.504625	0.85176	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D	0.99949	-8.69;-8.69;-8.69;-8.69;-8.69;-8.69	5.89	5.89	0.94794	.	0.000000	0.48286	D	0.000193	D	0.99967	0.9988	H	0.99811	4.8	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96653	0.9483	10	0.87932	D	0	.	15.5446	0.76086	1.0:0.0:0.0:0.0	.	254	O95460-2	.	R	105;295;254;254;254;295;105	ENSP00000361839:C105R;ENSP00000361840:C295R;ENSP00000361842:C254R;ENSP00000343164:C254R;ENSP00000440328:C254R;ENSP00000361837:C105R	ENSP00000255132:C295R	C	-	1	0	MATN4	43363381	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.243000	0.95416	2.267000	0.75376	0.529000	0.55759	TGC		0.587	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
OPRL1	4987	broad.mit.edu	37	20	62724089	62724089	+	Missense_Mutation	SNP	C	C	T	rs148535906		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:62724089C>T	ENST00000349451.3	+	4	428	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPRL1_ENST00000336866.2_Missense_Mutation_p.P6S|OPRL1_ENST00000355631.4_Missense_Mutation_p.P6S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	6					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCCCTCTTCCCCGCGCCGTT	0.632																																						uc002yic.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(16-18)Ccc>Tcc		Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.							62.0	61.0	61.0					20																	62724089		2198	4291	6489	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62724089C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.16C>T	20.37:g.62724089C>T	ENSP00000336764:p.Pro6Ser					OPRL1_uc002yid.3_Missense_Mutation_p.P6S|OPRL1_uc021wgs.1_Missense_Mutation_p.P6S|OPRL1_uc002yif.4_Missense_Mutation_p.P6S	p.P6S	NM_182647	NP_872588	P41146	OPRX_HUMAN			2	435	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		6					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.16C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953804	0.18431	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.62498	0.02;0.02;0.02	3.9	2.93	0.34026	.	3.630070	0.00669	N	0.000628	T	0.46678	0.1405	N	0.08118	0	0.35120	D	0.766945	B;B	0.16396	0.017;0.005	B;B	0.11329	0.006;0.003	T	0.36187	-0.9758	10	0.40728	T	0.16	.	10.3783	0.44096	0.0:0.8316:0.0:0.1684	.	6;6	P41146-2;P41146	.;OPRX_HUMAN	S	6	ENSP00000336843:P6S;ENSP00000347848:P6S;ENSP00000336764:P6S	ENSP00000336843:P6S	P	+	1	0	OPRL1	62194533	0.967000	0.33354	0.873000	0.34254	0.152000	0.21847	0.878000	0.28126	1.747000	0.51819	0.450000	0.29827	CCC		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
KCNJ15	3772	broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:39671533C>T	ENST00000328656.4	+	4	653	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000398930.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	117					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CTCACTGGGGCGTTTCTCTTT	0.493																																						uc021wjc.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(349-351)gCg>gTg		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.							97.0	99.0	98.0					21																	39671533		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671533C>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.350C>T	21.37:g.39671533C>T	ENSP00000331698:p.Ala117Val					KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V	p.A117V	NM_170737	NP_733933	Q99712	IRK15_HUMAN			0	350	+			117					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.350C>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969301	0.74246	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.64	5.64	0.86602	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	9	.	.	.	.	19.6932	0.96010	0.0:1.0:0.0:0.0	.	117	Q99712	IRK15_HUMAN	V	117	ENSP00000331698:A117V;ENSP00000381902:A117V;ENSP00000381911:A117V;ENSP00000381905:A117V;ENSP00000414487:A117V;ENSP00000381904:A117V;ENSP00000381907:A117V;ENSP00000381901:A117V;ENSP00000400849:A117V	.	A	+	2	0	KCNJ15	38593403	1.000000	0.71417	0.861000	0.33841	0.290000	0.27261	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCG		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243	
UMODL1	89766	broad.mit.edu	37	21	43522316	43522316	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:43522316C>A	ENST00000408910.2	+	8	1227	c.1227C>A	c.(1225-1227)caC>caA	p.H409Q	UMODL1_ENST00000408989.2_Missense_Mutation_p.H409Q|UMODL1_ENST00000400427.1_Missense_Mutation_p.H337Q|UMODL1_ENST00000400424.2_Missense_Mutation_p.H337Q|C21orf128_ENST00000329015.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	409	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTGTAAACCACAACCTGACGG	0.428																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1225-1227)caC>caA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							97.0	97.0	97.0					21																	43522316		1907	4123	6030	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43522316C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1227C>A	21.37:g.43522316C>A	ENSP00000386147:p.His409Gln					UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zaf.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	p.H409Q	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			7	1227	+			409			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1227C>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816395	0.02776	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	3.99	1.05	0.20165	SEA (1);	0.946870	0.08752	N	0.898989	T	0.29556	0.0737	L	0.40543	1.245	0.19300	N	0.99998	B;P;B	0.42375	0.404;0.778;0.316	B;P;B	0.44518	0.22;0.452;0.222	T	0.16453	-1.0402	10	0.26408	T	0.33	-9.4479	3.6287	0.08123	0.3458:0.458:0.0:0.1962	.	337;409;409	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	Q	337;337;409;409	ENSP00000383279:H337Q;ENSP00000383276:H337Q;ENSP00000386126:H409Q;ENSP00000386147:H409Q	ENSP00000383276:H337Q	H	+	3	2	UMODL1	42395385	0.001000	0.12720	0.003000	0.11579	0.021000	0.10359	-0.569000	0.05902	0.079000	0.16929	-0.152000	0.13540	CAC		0.428	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
FGD5	152273	broad.mit.edu	37	3	14862751	14862751	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:14862751T>A	ENST00000285046.5	+	1	2283	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	FGD5_ENST00000543601.1_Missense_Mutation_p.Y484N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	725					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTCATCTTTTATAGAGATGG	0.577																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2173-2175)Tat>Aat		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							50.0	52.0	52.0					3																	14862751		1873	4103	5976	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862751T>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2173T>A	3.37:g.14862751T>A	ENSP00000285046:p.Tyr725Asn					FGD5_uc011avk.2_Missense_Mutation_p.Y725N	p.Y725N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	2283	+			725					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2173T>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018609	0.35606	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77358	-1.09;-0.89	5.03	2.59	0.31030	.	0.121076	0.37623	N	0.002012	T	0.74076	0.3669	M	0.67953	2.075	0.39584	D	0.969488	P;P	0.43826	0.818;0.483	B;B	0.42653	0.394;0.189	T	0.72701	-0.4214	10	0.62326	D	0.03	-7.7643	7.993	0.30252	0.0:0.0714:0.1367:0.7919	.	484;725	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	N	725;484	ENSP00000285046:Y725N;ENSP00000445949:Y484N	ENSP00000285046:Y725N	Y	+	1	0	FGD5	14837755	1.000000	0.71417	0.211000	0.23655	0.977000	0.68977	4.406000	0.59748	0.334000	0.23590	0.482000	0.46254	TAT		0.577	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
DAG1	1605	broad.mit.edu	37	3	49568839	49568839	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:49568839A>G	ENST00000539901.1	+	3	1453	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	DAG1_ENST00000545947.1_Missense_Mutation_p.I299V|DAG1_ENST00000308775.2_Missense_Mutation_p.I299V|DAG1_ENST00000541308.1_Missense_Mutation_p.I299V|DAG1_ENST00000515359.2_Missense_Mutation_p.I299V|DAG1_ENST00000538711.1_Missense_Mutation_p.I299V	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	299	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGTTGGCACATCGCCAATAA	0.597																																						uc021wxz.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(895-897)Atc>Gtc		Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.							83.0	78.0	80.0					3																	49568839		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568839A>G	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.895A>G	3.37:g.49568839A>G	ENSP00000439334:p.Ile299Val					DAG1_uc021wya.1_Missense_Mutation_p.I299V|DAG1_uc021wyb.1_Missense_Mutation_p.I299V|DAG1_uc021wyc.1_Missense_Mutation_p.I299V|DAG1_uc021wyd.1_Missense_Mutation_p.I299V|DAG1_uc021wye.1_Missense_Mutation_p.I299V|DAG1_uc021wyf.1_Missense_Mutation_p.I299V|DAG1_uc021wyg.1_Missense_Mutation_p.I299V|DAG1_uc021wyh.1_Missense_Mutation_p.I299V|DAG1_uc021wyi.1_Missense_Mutation_p.I299V|DAG1_uc021wyj.1_Missense_Mutation_p.I299V|DAG1_uc021wyk.1_Missense_Mutation_p.I299V|DAG1_uc003cxc.4_Missense_Mutation_p.I299V	p.I299V	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	1364	+			299			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.895A>G	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144182	0.37825	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.9	5.9	0.94986	.	0.044737	0.85682	D	0.000000	T	0.66336	0.2779	N	0.21194	0.64	0.58432	D	0.999999	B	0.25521	0.128	B	0.29176	0.099	T	0.62072	-0.6931	10	0.14252	T	0.57	-18.466	15.3137	0.74056	1.0:0.0:0.0:0.0	.	299	Q14118	DAG1_HUMAN	V	299;299;299;299;299;299;98	ENSP00000440705:I299V;ENSP00000312435:I299V;ENSP00000442600:I299V;ENSP00000440590:I299V;ENSP00000439334:I299V;ENSP00000438421:I299V	ENSP00000312435:I299V	I	+	1	0	DAG1	49543843	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	9.331000	0.96430	2.255000	0.74692	0.523000	0.50628	ATC		0.597	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000498619.1_Silent_p.D216D|CASR_ENST00000296154.5_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537																																						uc003eew.4																			1	Substitution - coding silent(1)	p.D216D(2)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(646-648)gaC>gaT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						125.0	134.0	131.0					3																	121980530		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980530C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.648C>T	3.37:g.121980530C>T						CASR_uc003eev.4_Silent_p.D216D	p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	1086	+			216					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.648C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
ADCY5	111	broad.mit.edu	37	3	123038564	123038564	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:123038564C>T	ENST00000462833.1	-	10	3425	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R388H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R371H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	738					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGAACTTGCGGACGTGCTC	0.587																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2212-2214)cGc>cAc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							97.0	83.0	88.0					3																	123038564		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123038564C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2213G>A	3.37:g.123038564C>T	ENSP00000419361:p.Arg738His					ADCY5_uc021xdd.1_Missense_Mutation_p.R388H|ADCY5_uc003egg.2_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	p.R738H	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	9	2213	-			738					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2213G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267084	0.59540	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.13	5.13	0.70059	.	0.079450	0.50627	D	0.000113	T	0.70753	0.3260	N	0.25647	0.755	0.49798	D	0.999827	B;D	0.58970	0.15;0.984	B;P	0.57425	0.041;0.82	T	0.64011	-0.6507	10	0.11794	T	0.64	.	12.1517	0.54053	0.0:0.9223:0.0:0.0777	.	738;371	O95622;B3KWA8	ADCY5_HUMAN;.	H	738;371;388;297	ENSP00000419361:R738H;ENSP00000418537:R371H;ENSP00000308685:R388H;ENSP00000420082:R297H	ENSP00000308685:R388H	R	-	2	0	ADCY5	124521254	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.213000	0.51153	2.686000	0.91538	0.637000	0.83480	CGC		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
PIGZ	80235	broad.mit.edu	37	3	196675037	196675037	+	Missense_Mutation	SNP	C	C	T	rs202144183		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:196675037C>T	ENST00000412723.1	-	3	877	c.731G>A	c.(730-732)cGt>cAt	p.R244H	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	244					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGTGGCTCCACGAGTGCCCCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16360	0.001		0.0	False		,,,				2504	0.0					uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(730-732)cGt>cAt		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							34.0	41.0	39.0					3																	196675037		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675037C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.731G>A	3.37:g.196675037C>T	ENSP00000413405:p.Arg244His						p.R244H	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	878	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		244					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.731G>A	CCDS3324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.434	0.080333	0.08533	.	.	ENSG00000119227	ENST00000412723	T	0.64260	-0.09	5.04	2.05	0.26809	.	0.901081	0.09432	N	0.802901	T	0.41789	0.1174	N	0.16233	0.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24404	-1.0161	10	0.15499	T	0.54	1.8668	7.565	0.27874	0.0:0.6343:0.0:0.3657	.	244	Q86VD9	PIGZ_HUMAN	H	244	ENSP00000413405:R244H	ENSP00000413405:R244H	R	-	2	0	PIGZ	198159434	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	0.133000	0.15912	0.180000	0.19960	-0.390000	0.06520	CGT		0.637	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163	
ZNF718	255403	broad.mit.edu	37	4	155414	155414	+	lincRNA	SNP	C	C	T	rs539850096	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:155414C>T	ENST00000510175.1	+	0	849							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CCTTCTCATGCGAAGAATGTG	0.373													C|||	6	0.00119808	0.0	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0061					uc003fzw.4																			0											c.(277-279)gCg>gTg		Homo sapiens zinc finger protein 718 (ZNF718), mRNA.							29.0	33.0	32.0					4																	155414		2111	4261	6372			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155414C>T	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155414C>T						ZNF718_uc003fzt.4_Silent_p.C313C|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	p.A93V	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	1	867	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	0					Q3SXZ4|Q3SXZ5	Silent	SNP	ENST00000510175.1	37	c.278C>T																																																																																					0.373	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
RBM47	54502	broad.mit.edu	37	4	40440359	40440359	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:40440359G>A	ENST00000381793.2	-	3	948	c.552C>T	c.(550-552)taC>taT	p.Y184Y	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.Y184Y|RBM47_ENST00000381795.6_Silent_p.Y184Y|RBM47_ENST00000514014.1_Silent_p.Y146Y|RBM47_ENST00000295971.7_Silent_p.Y184Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	184	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGCGCTGGCGTAGACGATCA	0.647																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(550-552)taC>taT		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							64.0	57.0	59.0					4																	40440359		2202	4298	6500	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440359G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.552C>T	4.37:g.40440359G>A						RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	p.Y184Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1262	-			184			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.552C>T	CCDS43223.1																																																																																				0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
ALB	213	broad.mit.edu	37	4	74283995	74283995	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:74283995T>A	ENST00000503124.1	+	10	1376	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H	ALB_ENST00000401494.3_Missense_Mutation_p.L425H|ALB_ENST00000509063.1_Missense_Mutation_p.L540H|ALB_ENST00000415165.2_Missense_Mutation_p.L348H|ALB_ENST00000295897.4_Missense_Mutation_p.L540H|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATGCACACTTTCTGAGAAG	0.403																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1618-1620)cTt>cAt		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						111.0	109.0	109.0					4																	74283995		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283995T>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1169T>A	4.37:g.74283995T>A	ENSP00000421027:p.Leu390His					ALB_uc011cbe.2_Missense_Mutation_p.L219H|ALB_uc003hgw.4_Missense_Mutation_p.L348H|ALB_uc011cbf.2_Missense_Mutation_p.L430H	p.L540H	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1692	+	Breast(15;0.00102)		540			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	18.11	3.549783	0.65311	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.94	5.94	0.96194	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.321794	0.26684	N	0.023021	D	0.82921	0.5142	M	0.83312	2.635	0.34978	D	0.75382	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.999	D;D;D;D;P	0.87578	0.998;0.931;0.949;0.986;0.899	D	0.88456	0.3052	10	0.87932	D	0	-17.7392	7.5154	0.27598	0.0:0.1511:0.0:0.8489	.	425;348;390;540;540	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	H	540;348;327;390;540;425;549	ENSP00000295897:L540H;ENSP00000401820:L348H;ENSP00000421027:L390H;ENSP00000422784:L540H;ENSP00000384695:L425H	ENSP00000295897:L540H	L	+	2	0	ALB	74502859	0.996000	0.38824	0.998000	0.56505	0.885000	0.51271	2.844000	0.48246	2.275000	0.75901	0.528000	0.53228	CTT		0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
PPEF2	5470	broad.mit.edu	37	4	76793227	76793227	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:76793227C>T	ENST00000286719.7	-	13	1956	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	534	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATACTGCACAATATGTGGG	0.428																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1600-1602)Gtg>Atg		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							131.0	119.0	123.0					4																	76793227		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76793227C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1600G>A	4.37:g.76793227C>T	ENSP00000286719:p.Val534Met					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	p.V534M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1957	-			534			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1600G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889577	0.33348	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.06294	3.32	4.47	2.74	0.32292	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.431442	0.24996	N	0.033945	T	0.08044	0.0201	M	0.62723	1.935	0.32491	N	0.540229	B;B	0.30851	0.13;0.297	B;B	0.31614	0.06;0.133	T	0.06215	-1.0839	10	0.34782	T	0.22	-0.007	8.9645	0.35867	0.0:0.8154:0.0:0.1846	.	534;534	O14830-2;O14830	.;PPE2_HUMAN	M	534	ENSP00000286719:V534M	ENSP00000286719:V534M	V	-	1	0	PPEF2	77012251	0.629000	0.27146	0.884000	0.34674	0.899000	0.52679	1.164000	0.31810	0.624000	0.30286	0.491000	0.48974	GTG		0.428	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
ADAMTS12	81792	broad.mit.edu	37	5	33596125	33596125	+	Silent	SNP	G	G	A	rs562347214		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:33596125G>A	ENST00000504830.1	-	17	2903	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.R771R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	856	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACCATCCCGCGGCCCTTCT	0.512										HNSCC(64;0.19)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.001					uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2566-2568)cgC>cgT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							172.0	152.0	158.0					5																	33596125		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596125G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2568C>T	5.37:g.33596125G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.R771R	p.R856R	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2731	-			856			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2568C>T	CCDS34140.1																																																																																				0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
PCDHA10	56139	broad.mit.edu	37	5	140237259	140237259	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140237259G>A	ENST00000307360.5	+	1	1626	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGTGCCGCCTCTGGGCA	0.697																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1624-1626)ccG>ccA		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							51.0	55.0	54.0					5																	140237259		2196	4268	6464	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237259G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1626G>A	5.37:g.140237259G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P542P	p.P542P	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1626	+			557			Cadherin 5.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1626G>A	CCDS54921.1																																																																																				0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHB5	26167	broad.mit.edu	37	5	140517047	140517052	+	In_Frame_Del	DEL	GGCCCA	GGCCCA	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140517047_140517052delGGCCCA	ENST00000231134.5	+	1	2248_2253	c.2031_2036delGGCCCA	c.(2029-2037)ccggcccag>ccg	p.AQ680del		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	680					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGGCCCAGGCCCAGGCC	0.694																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2029-2037)ccggcccag>ccg		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.																																				SO:0001651	inframe_deletion	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517047_140517052delGGCCCA	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2031_2036delGGCCCA	5.37:g.140517053_140517058delGGCCCA	ENSP00000231134:p.Ala680_Gln681del						p.AQ680del	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2248_2253	+			680					Q549F4|Q9UFU9	In_Frame_Del	DEL	ENST00000231134.5	37	c.2031_2036delGGCCCA	CCDS4247.1																																																																																				0.694	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
RIPK1	8737	broad.mit.edu	37	6	3104537	3104537	+	Missense_Mutation	SNP	C	C	T	rs370418004		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:3104537C>T	ENST00000259808.4	+	8	1292	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.R286W|RIPK1_ENST00000380409.2_Missense_Mutation_p.R332W			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	332	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|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)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCTTCAAGCCGGTCAAATTC	0.348																																						uc010jni.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(994-996)Cgg>Tgg		Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	100.0	98.0	99.0		994	2.2	1.0	6		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIPK1	NM_003804.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	332/672	3104537	1,13005	2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3104537C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.994C>T	6.37:g.3104537C>T	ENSP00000259808:p.Arg332Trp					RIPK1_uc003muv.4_Missense_Mutation_p.R169W|RIPK1_uc003mux.3_Missense_Mutation_p.R332W|RIPK1_uc011dhs.2_Missense_Mutation_p.R286W	p.R332W	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			7	1226	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	332			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.994C>T	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472042	0.43942	0.0	1.16E-4	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.78924	-1.22;-0.67;-1.22	4.75	2.22	0.28083	.	0.580338	0.17584	N	0.169002	T	0.79741	0.4498	M	0.65975	2.015	0.37734	D	0.925388	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.922	T	0.79647	-0.1716	10	0.66056	D	0.02	-27.2956	10.4826	0.44702	0.4955:0.5045:0.0:0.0	.	286;332	Q13546-2;Q13546	.;RIPK1_HUMAN	W	332;286;332	ENSP00000259808:R332W;ENSP00000442294:R286W;ENSP00000369773:R332W	ENSP00000259808:R332W	R	+	1	2	RIPK1	3049536	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	1.022000	0.30052	0.228000	0.21019	-0.265000	0.10407	CGG		0.348	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804	
OR2H1	26716	broad.mit.edu	37	6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29430405G>A	ENST00000377136.1	+	4	1324	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V287I|OR2H1_ENST00000377133.1_Missense_Mutation_p.V287I|OR2H1_ENST00000377132.1_Missense_Mutation_p.V287I|OR2H1_ENST00000442615.1_Missense_Mutation_p.V287I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(859-861)Gta>Ata		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							79.0	81.0	81.0					6																	29430405		1510	2708	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430405G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.859G>A	6.37:g.29430405G>A	ENSP00000366340:p.Val287Ile					OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1302	+			287					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.859G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673561	0.03403	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	3.17	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	0.153166	0.30302	N	0.009934	T	0.01489	0.0048	N	0.01197	-0.965	0.24854	N	0.992386	B	0.09022	0.002	B	0.04013	0.001	T	0.46317	-0.9200	10	0.02654	T	1	.	7.3935	0.26923	0.7976:0.0:0.2024:0.0	.	287	Q9GZK4	OR2H1_HUMAN	I	287	ENSP00000366340:V287I;ENSP00000366337:V287I;ENSP00000393254:V287I;ENSP00000366336:V287I;ENSP00000380010:V287I	ENSP00000366336:V287I	V	+	1	0	OR2H1	29538384	0.998000	0.40836	0.767000	0.31495	0.747000	0.42532	3.997000	0.57016	0.149000	0.19098	-0.368000	0.07277	GTA		0.493	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
GABBR1	2550	broad.mit.edu	37	6	29599228	29599228	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29599228G>A	ENST00000377034.4	-	3	569	c.234C>T	c.(232-234)gtC>gtT	p.V78V	GABBR1_ENST00000377016.4_Silent_p.V78V|GABBR1_ENST00000376977.3_Silent_p.V78V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	78	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGCACTTGCGGACCTTGGGCC	0.602																																						uc003nmt.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(232-234)gtC>gtT		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	Baclofen(DB00181)|Progabide(DB00837)						72.0	77.0	75.0					6																	29599228		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599228G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.234C>T	6.37:g.29599228G>A						GABBR1_uc003nmu.4_Silent_p.V78V|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	p.V78V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			2	570	-			78			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.234C>T	CCDS4663.1																																																																																				0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
HLA-DQB2	3120	broad.mit.edu	37	6	32729588	32729588	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:32729588G>A	ENST00000437316.2	-	2	276	c.213C>T	c.(211-213)gaC>gaT	p.D71D	HLA-DQB2_ENST00000411527.1_Silent_p.D71D|HLA-DQB2_ENST00000435145.2_Silent_p.D71D			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	75	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACTCCCCAACGTCGCTGTCGA	0.607																																						uc003obz.2																			0		p.S70S(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(211-213)gaC>gaT		Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32729588G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.213C>T	6.37:g.32729588G>A						HLA-DQB2_uc003oby.4_Silent_p.D71D	p.D71D	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN			1	296	-			71					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.213C>T		.	.	.	.	.	.	.	.	.	.	G	1.358	-0.589600	0.03799	.	.	ENSG00000232629	ENST00000427449	.	.	.	3.32	0.0658	0.14358	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	.	0.6181	0.00773	0.2395:0.1912:0.3736:0.1958	.	.	.	.	M	70	.	.	T	-	2	0	HLA-DQB2	32837566	0.008000	0.16893	0.798000	0.32154	0.071000	0.16799	-0.596000	0.05720	0.215000	0.20761	0.313000	0.20887	ACG		0.607	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2		
TNRC18	84629	broad.mit.edu	37	7	5417608	5417608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:5417608G>A	ENST00000430969.1	-	6	2548	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	TNRC18_ENST00000399537.4_Missense_Mutation_p.R734W	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	734							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTTCCTCCCGGTGTCTGGCC	0.682																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(2200-2202)Cgg>Tgg		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.							39.0	48.0	45.0					7																	5417608		2088	4202	6290	SO:0001583	missense	84629						DNA binding	g.chr7:5417608G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2200C>T	7.37:g.5417608G>A	ENSP00000395538:p.Arg734Trp						p.R734W	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2549	-		Ovarian(82;0.142)	734					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.2200C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040009	0.19669	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.13778	2.56;2.56	4.38	3.33	0.38152	.	.	.	.	.	T	0.30386	0.0763	L	0.55481	1.735	0.30042	N	0.812553	D	0.89917	1.0	D	0.70016	0.967	T	0.04347	-1.0958	9	0.66056	D	0.02	.	12.264	0.54668	0.0:0.0:0.7162:0.2838	.	734	O15417	TNC18_HUMAN	W	734;734;136	ENSP00000382452:R734W;ENSP00000395538:R734W	ENSP00000382452:R734W	R	-	1	2	TNRC18	5384134	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	2.299000	0.43611	2.129000	0.65627	0.561000	0.74099	CGG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
RAMP3	10268	broad.mit.edu	37	7	45216987	45216987	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:45216987C>T	ENST00000242249.4	+	2	176	c.138C>T	c.(136-138)gaC>gaT	p.D46D	RAMP3_ENST00000481345.1_Silent_p.D46D|RAMP3_ENST00000496212.1_Silent_p.D46D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	46					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTTTCGCAGACATGATGGGCA	0.607																																						uc003tnb.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(136-138)gaC>gaT		Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	Pramlintide(DB01278)						254.0	180.0	205.0					7																	45216987		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216987C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.138C>T	7.37:g.45216987C>T							p.D46D	NM_005856	NP_005847	O60896	RAMP3_HUMAN			1	199	+			46					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.138C>T	CCDS5503.1																																																																																				0.607	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	rs567477136|rs397517114		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR_ENST00000454757.2_Missense_Mutation_p.V721M|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACCCCCACGTGTGCCGCCT	0.632		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		16	Insertion - In frame(11)|Substitution - Missense(5)	p.H773_V774insNPH(21)|p.P772_H773insPR(11)|p.V774M(9)|p.H773R(9)|p.H773_V774insH(5)|p.H773_V774insPH(4)|p.V774_C775insHV(4)|p.H773_V774insQ(2)|p.P772_H773insYNP(2)|p.H773_V774insGNPH(2)|p.P772_H773insX(2)|p.H773L(2)|p.V774L(2)|p.H773Y(2)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.P772_H773insV(1)|p.V774del(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.H773_V774>LM(1)	lung(16)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2320-2322)Gtg>Atg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105.0	95.0	98.0					7																	55249022		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249022G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2320G>A	7.37:g.55249022G>A	ENSP00000275493:p.Val774Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.V774M|EGFR_uc010kzg.2_Missense_Mutation_p.V729M|EGFR_uc022adn.1_Missense_Mutation_p.V729M|EGFR_uc011kco.2_Missense_Mutation_p.V721M|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.V9M	p.V774M	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2566	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2320G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545244	0.86022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68025	-0.3;-0.3;-0.3	5.85	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	H	0.96662	3.86	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.968;0.997	D	0.91251	0.5029	10	0.87932	D	0	.	13.8489	0.63485	0.0742:0.0:0.9258:0.0	.	729;774	Q504U8;P00533	.;EGFR_HUMAN	M	729;644;774;721	ENSP00000415559:V729M;ENSP00000275493:V774M;ENSP00000395243:V721M	ENSP00000275493:V774M	V	+	1	0	EGFR	55216516	1.000000	0.71417	0.921000	0.36526	0.987000	0.75469	7.838000	0.86804	1.472000	0.48140	0.655000	0.94253	GTG		0.632	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PCLO	27445	broad.mit.edu	37	7	82582186	82582186	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:82582186delA	ENST00000333891.9	-	5	8420	c.8083delT	c.(8083-8085)tccfs	p.S2695fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.S2695fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGTTATGGAAATGCTGCTG	0.413																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8083-8085)tccfs		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							68.0	66.0	67.0					7																	82582186		1876	4104	5980	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582186delA	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8083delT	7.37:g.82582186delA	ENSP00000334319:p.Ser2695fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.3_5'Flank	p.S2695fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	8372	-			2626						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.8083delT	CCDS47630.1																																																																																				0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
BAIAP2L1	55971	broad.mit.edu	37	7	97935824	97935824	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:97935824C>G	ENST00000005260.8	-	11	1383	c.1168G>C	c.(1168-1170)Ggt>Cgt	p.G390R	RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	390	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAACCAACCCCTCCTACCG	0.572																																						uc003upj.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1168-1170)Ggt>Cgt		Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.							144.0	116.0	126.0					7																	97935824		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97935824C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1168G>C	7.37:g.97935824C>G	ENSP00000005260:p.Gly390Arg					hCG_2023280_uc003upk.1_5'Flank	p.G390R	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	1431	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		390			SH3.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1168G>C	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395107	0.83011	.	.	ENSG00000006453	ENST00000005260	T	0.72942	-0.7	5.28	5.28	0.74379	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94860	0.8021	10	0.87932	D	0	-21.1559	16.7557	0.85498	0.0:1.0:0.0:0.0	.	390	Q9UHR4	BI2L1_HUMAN	R	390	ENSP00000005260:G390R	ENSP00000005260:G390R	G	-	1	0	AC093799.1	97773760	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	5.937000	0.70162	2.650000	0.89964	0.591000	0.81541	GGT		0.572	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
MCM7	4176	broad.mit.edu	37	7	99694927	99694927	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:99694927G>A	ENST00000303887.5	-	10	1843	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MCM7_ENST00000354230.3_Missense_Mutation_p.R224C|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	400	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R400C(1)|p.R224C(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACTTACTGCGAGGCGCCAGT	0.512																																						uc003usw.1																			2	Substitution - Missense(2)	p.R400C(1)|p.R224C(1)	lung(2)	endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1198-1200)Cgc>Tgc		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						89.0	76.0	81.0					7																	99694927		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99694927G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1198C>T	7.37:g.99694927G>A	ENSP00000307288:p.Arg400Cys					MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	p.R400C	NM_005916	NP_005907	P33993	MCM7_HUMAN			9	1708	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		400			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1198C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167627	0.57476	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12465	2.68;2.68	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77848	-0.2435	10	0.87932	D	0	.	15.7858	0.78300	0.0:0.0:1.0:0.0	.	400	P33993	MCM7_HUMAN	C	400;337;293;224	ENSP00000307288:R400C;ENSP00000346171:R224C	ENSP00000307288:R400C	R	-	1	0	MCM7	99532863	1.000000	0.71417	0.999000	0.59377	0.257000	0.26127	4.020000	0.57189	2.576000	0.86940	0.655000	0.94253	CGC		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
ASZ1	136991	broad.mit.edu	37	7	117020042	117020042	+	Silent	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:117020042T>C	ENST00000284629.2	-	10	1067	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GTATCTCTTCTACCTGTAGTT	0.308																																						uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1003-1005)gtA>gtG		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							76.0	80.0	79.0					7																	117020042		2202	4291	6493	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117020042T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1005A>G	7.37:g.117020042T>C						ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	p.V335V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		9	1068	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		335						Silent	SNP	ENST00000284629.2	37	c.1005A>G	CCDS5772.1																																																																																				0.308	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
HIPK2	28996	broad.mit.edu	37	7	139416214	139416214	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:139416214C>T	ENST00000406875.3	-	2	714	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.R207Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.R207Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	207	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAACGTCCCTCGGCCCAAGAA	0.552																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(619-621)cGa>cAa		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							77.0	69.0	71.0					7																	139416214		1568	3582	5150	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416214C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.620G>A	7.37:g.139416214C>T	ENSP00000385571:p.Arg207Gln					HIPK2_uc003vvd.4_Missense_Mutation_p.R207Q	p.R207Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			1	891	-	Melanoma(164;0.205)		207			Interaction with DAXX.|Protein kinase.|Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	C	16.72	3.202443	0.58234	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.65178	-0.14;-0.14;-0.14	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78207	0.4247	.	.	.	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;P	0.80764	0.994;0.836	T	0.75969	-0.3130	8	0.31617	T	0.26	.	18.6737	0.91521	0.0:1.0:0.0:0.0	.	207;207	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	207	ENSP00000385571:R207Q;ENSP00000413724:R207Q;ENSP00000343108:R207Q	ENSP00000343108:R207Q	R	-	2	0	HIPK2	139062700	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.818000	0.86416	2.394000	0.81467	0.591000	0.81541	CGA		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
CLCN1	1180	broad.mit.edu	37	7	143048733	143048733	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:143048733G>A	ENST00000343257.2	+	23	2729	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	881					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGCAGCTCCGCCCTCCCCTT	0.537																																						uc003wcr.1																			0		p.L880L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2641-2643)cGc>cAc		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							39.0	37.0	38.0					7																	143048733		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048733G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2642G>A	7.37:g.143048733G>A	ENSP00000339867:p.Arg881His					CLCN1_uc011ktc.1_Missense_Mutation_p.R493H	p.R881H	NM_000083	NP_000074	P35523	CLCN1_HUMAN			22	2729	+	Melanoma(164;0.205)		881					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2642G>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750118	0.89753	.	.	ENSG00000188037	ENST00000343257	D	0.87412	-2.25	4.52	4.52	0.55395	.	0.183165	0.48767	D	0.000170	D	0.92485	0.7614	M	0.72894	2.215	0.48185	D	0.999602	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.964	D	0.93016	0.6436	10	0.56958	D	0.05	.	15.7691	0.78149	0.0:0.0:1.0:0.0	.	80;881	Q75L28;P35523	.;CLCN1_HUMAN	H	881	ENSP00000339867:R881H	ENSP00000339867:R881H	R	+	2	0	CLCN1	142758855	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.747000	0.68689	2.237000	0.73441	0.462000	0.41574	CGC		0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
KCNB2	9312	broad.mit.edu	37	8	73848914	73848914	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:73848914C>T	ENST00000523207.1	+	3	1912	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	442					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCTCTTGAGCGGGCCAAAAG	0.443																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1324-1326)Cgg>Tgg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							68.0	72.0	71.0					8																	73848914		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848914C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1324C>T	8.37:g.73848914C>T	ENSP00000430846:p.Arg442Trp						p.R442W	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1912	+	Breast(64;0.137)		442					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1324C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710773	0.48517	.	.	ENSG00000182674	ENST00000523207	D	0.97688	-4.49	5.61	3.74	0.42951	.	0.000000	0.41823	D	0.000818	D	0.98229	0.9414	M	0.66939	2.045	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	D	0.98380	1.0558	10	0.87932	D	0	.	13.4524	0.61178	0.425:0.575:0.0:0.0	.	442	Q92953	KCNB2_HUMAN	W	442	ENSP00000430846:R442W	ENSP00000430846:R442W	R	+	1	2	KCNB2	74011468	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.593000	0.23999	0.659000	0.30945	-0.311000	0.09066	CGG		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KIFC2	90990	broad.mit.edu	37	8	145693119	145693119	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:145693119T>C	ENST00000301332.2	+	6	1015	c.638T>C	c.(637-639)cTg>cCg	p.L213P	CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000403000.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	213	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AAGCAGCAGCTGGAACAGCAG	0.642											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(637-639)cTg>cCg		Homo sapiens kinesin family member C2 (KIFC2), mRNA.							45.0	48.0	47.0					8																	145693119		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693119T>C	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.638T>C	8.37:g.145693119T>C	ENSP00000301332:p.Leu213Pro		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.L213P	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		5	703	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		213			Gln-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.638T>C	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992624	0.74703	.	.	ENSG00000167702	ENST00000301332	T	0.42131	0.98	4.8	3.66	0.41972	.	0.000000	0.27901	N	0.017399	T	0.29749	0.0743	L	0.34521	1.04	0.80722	D	1	B	0.29627	0.252	B	0.26614	0.071	T	0.11767	-1.0574	10	0.72032	D	0.01	-13.7043	8.2279	0.31579	0.0:0.0955:0.0:0.9045	.	213	Q96AC6	KIFC2_HUMAN	P	213	ENSP00000301332:L213P	ENSP00000301332:L213P	L	+	2	0	KIFC2	145663927	0.002000	0.14202	0.638000	0.29380	0.787000	0.44495	1.345000	0.33953	0.878000	0.35920	0.533000	0.62120	CTG		0.642	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754	
BNC2	54796	broad.mit.edu	37	9	16419304	16419304	+	Missense_Mutation	SNP	C	C	T	rs143124811	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:16419304C>T	ENST00000380672.4	-	7	3040	c.2983G>A	c.(2983-2985)Ggg>Agg	p.G995R	BNC2_ENST00000545497.1_Missense_Mutation_p.G900R|BNC2_ENST00000380667.2_Missense_Mutation_p.G928R	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCACTCGCCCCGTCAATGTCA	0.592																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2983-2985)Ggg>Agg		Homo sapiens basonuclin 2 (BNC2), mRNA.		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	84.0	80.0	82.0		2983	6.1	0.8	9	dbSNP_134	82	0,8600		0,0,4300	no	missense	BNC2	NM_017637.5	125	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	995/1100	16419304	3,13003	2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419304C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2983G>A	9.37:g.16419304C>T	ENSP00000370047:p.Gly995Arg					BNC2_uc011lmw.2_Missense_Mutation_p.G900R|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G782R	p.G995R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	3123	-			995						Missense_Mutation	SNP	ENST00000380672.4	37	c.2983G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154852	0.57259	6.81E-4	0.0	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.30182	1.54;1.55;1.55	6.08	6.08	0.98989	.	0.152356	0.64402	D	0.000017	T	0.47783	0.1464	L	0.55481	1.735	0.80722	D	1	D;D;D	0.69078	0.989;0.982;0.997	P;P;P	0.56514	0.8;0.636;0.67	T	0.08391	-1.0724	10	0.33940	T	0.23	-18.0841	20.6721	0.99693	0.0:1.0:0.0:0.0	.	900;995;760	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	R	995;928;900	ENSP00000370047:G995R;ENSP00000370042:G928R;ENSP00000444640:G900R	ENSP00000370042:G928R	G	-	1	0	BNC2	16409304	1.000000	0.71417	0.838000	0.33150	0.420000	0.31355	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGG		0.592	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
TAF1L	138474	broad.mit.edu	37	9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:32631824G>A	ENST00000242310.4	-	1	3843	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCTTAAGCCGCCTCAGTTGC	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)	p.R1252W(2)	breast(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3754-3756)Cgg>Tgg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							92.0	90.0	91.0					9																	32631824		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631824G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3754C>T	9.37:g.32631824G>A	ENSP00000418379:p.Arg1252Trp					AX747113_uc003zrh.1_5'Flank	p.R1252W	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3844	-			1252					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3754C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809308	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.66099	-0.19	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.65837	-0.6071	10	0.87932	D	0	.	4.2195	0.10551	0.0:0.0:0.605:0.395	.	1252	Q8IZX4	TAF1L_HUMAN	W	1252	ENSP00000418379:R1252W	ENSP00000418379:R1252W	R	-	1	2	TAF1L	32621824	0.996000	0.38824	0.995000	0.50966	0.426000	0.31534	0.577000	0.23758	0.507000	0.28148	0.195000	0.17529	CGG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
STAG2	10735	broad.mit.edu	37	X	123205046	123205047	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chrX:123205046_123205047delTA	ENST00000371160.1	+	25	2696_2697	c.2406_2407delTA	c.(2404-2409)attatgfs	p.M803fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.M803fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.M803fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.M734fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	803					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCCATCAGATTATGTCAGGAGG	0.376																																						uc004eua.3																			0		p.Q801*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2404-2409)attatgfs		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123205046_123205047delTA	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2406_2407delTA	X.37:g.123205046_123205047delTA	ENSP00000360202:p.Met803fs					STAG2_uc004etz.4_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.3_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.3_Frame_Shift_Del_p.I802fs	p.I802fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			24	2810_2811	+			802					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.2406_2407delTA	CCDS14607.1																																																																																				0.376	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
