#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
CYR61	3491	broad.mit.edu	37	1	86047880	86047881	+	In_Frame_Ins	INS	-	-	TGG			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:86047880_86047881insTGG	ENST00000451137.2	+	3	771_772	c.547_548insTGG	c.(547-549)ctg>cTGGtg	p.183_184insV		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	183					anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGCAAGGAGCTGGGATTCGAT	0.559											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dle.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(547-549)ctg>cTGGtg		Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.																																				SO:0001652	inframe_insertion	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047880_86047881insTGG	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.548_550dupTGG	1.37:g.86047881_86047883dupTGG	ENSP00000398736:p.Leu183_Gly184insVal		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_uc021opf.1_In_Frame_Ins_p.116_117insV	p.183_184insV	NM_001554	NP_001545	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	2	771_772	+			183					O14934|O43775|Q9BZL7	In_Frame_Ins	INS	ENST00000451137.2	37	c.547_548insTGG	CCDS706.1																																																																																				0.559	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554	
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						uc009wig.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						c.(2128-2130)gGt>gAt		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF10_uc010oxo.1_Missense_Mutation_p.G637D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.G527D|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.G513D|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.G372D	p.G710D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	17	2323	+	all_hematologic(923;0.032)		712						Missense_Mutation	SNP	ENST00000440491.2	37	c.2129G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675	
PIGR	5284	broad.mit.edu	37	1	207110686	207110686	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:207110686C>T	ENST00000356495.4	-	4	982	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	267	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAAATTTGGCCACGTTTGCC	0.592																																						uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(799-801)Gcc>Acc		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							70.0	69.0	69.0					1																	207110686		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110686C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.799G>A	1.37:g.207110686C>T	ENSP00000348888:p.Ala267Thr					PIGR_uc009xbz.3_Missense_Mutation_p.A267T	p.A267T	NM_002644	NP_002635	P01833	PIGR_HUMAN			3	983	-			267			Ig-like V-type 3.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.799G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685645	0.68157	.	.	ENSG00000162896	ENST00000356495	T	0.65549	-0.16	5.79	-4.63	0.03359	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.177410	0.06028	N	0.652507	T	0.56352	0.1979	L	0.46157	1.445	0.09310	N	1	B	0.32918	0.39	B	0.41271	0.352	T	0.50180	-0.8858	10	0.14252	T	0.57	-14.6477	11.1236	0.48304	0.1482:0.1154:0.6679:0.0685	.	267	P01833	PIGR_HUMAN	T	267	ENSP00000348888:A267T	ENSP00000348888:A267T	A	-	1	0	PIGR	205177309	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.686000	0.05161	-1.342000	0.02222	-0.150000	0.13652	GCC		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
LIN9	286826	broad.mit.edu	37	1	226426780	226426780	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:226426780G>A	ENST00000328205.5	-	12	1730	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	LIN9_ENST00000481685.1_Silent_p.P360P|LIN9_ENST00000366801.1_Silent_p.P344P	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	379					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CAATGCTGATGGGCATGGAAT	0.343																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			0		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1183-1185)ccC>ccT		Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.							93.0	89.0	90.0					1																	226426780		2203	4300	6503	SO:0001819	synonymous_variant	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226426780G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1185C>T	1.37:g.226426780G>A						LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.3_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	p.P395P	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	11	1495	-	Breast(184;0.158)		379					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Silent	SNP	ENST00000328205.5	37	c.1185C>T	CCDS1553.1																																																																																				0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	
ADARB2	105	broad.mit.edu	37	10	1405297	1405297	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:1405297C>T	ENST00000381312.1	-	3	1328	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	335	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTGCAGTGCGGCCTGCGCG	0.746																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1003-1005)Gca>Aca		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							7.0	8.0	7.0					10																	1405297		2098	4150	6248	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405297C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1003G>A	10.37:g.1405297C>T	ENSP00000370713:p.Ala335Thr						p.A335T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	2	1329	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	335			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1003G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277734	0.80692	.	.	ENSG00000185736	ENST00000381312	D	0.85484	-1.99	5.24	5.24	0.73138	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93950	0.7231	10	0.87932	D	0	-33.2469	18.8514	0.92232	0.0:1.0:0.0:0.0	.	335	Q9NS39	RED2_HUMAN	T	335	ENSP00000370713:A335T	ENSP00000370713:A335T	A	-	1	0	ADARB2	1395297	1.000000	0.71417	0.490000	0.27465	0.254000	0.26022	7.681000	0.84073	2.445000	0.82738	0.561000	0.74099	GCA		0.746	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
FGFR2	2263	broad.mit.edu	37	10	123298220	123298220	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:123298220G>T	ENST00000358487.5	-	6	906	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	FGFR2_ENST00000369059.1_Missense_Mutation_p.Q97K|FGFR2_ENST00000369061.4_Missense_Mutation_p.Q212K|FGFR2_ENST00000457416.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000346997.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000351936.6_Missense_Mutation_p.Q212K|FGFR2_ENST00000360144.3_Missense_Mutation_p.Q123K|FGFR2_ENST00000357555.5_Missense_Mutation_p.Q123K|FGFR2_ENST00000356226.4_Missense_Mutation_p.Q97K|FGFR2_ENST00000369060.4_Missense_Mutation_p.Q212K|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.Q212K|FGFR2_ENST00000369056.1_Missense_Mutation_p.Q212K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	212	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.Q212K(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAGTGCTGGTTTCGTACC	0.418		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc021pzz.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		1	Substitution - Missense(1)	p.Q212K(2)|p.N211I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(634-636)Cag>Aag		Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	Palifermin(DB00039)						144.0	126.0	132.0					10																	123298220		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123298220G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.634C>A	10.37:g.123298220G>T	ENSP00000351276:p.Gln212Lys					FGFR2_uc021pzv.1_Missense_Mutation_p.Q212K|FGFR2_uc021pzw.1_Missense_Mutation_p.Q97K|FGFR2_uc021pzx.1_Missense_Mutation_p.Q123K|FGFR2_uc021pzy.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.2_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.2_Missense_Mutation_p.Q97K|FGFR2_uc021qaa.1_Missense_Mutation_p.Q212K|FGFR2_uc021qab.1_Missense_Mutation_p.Q123K|FGFR2_uc021qac.1_Missense_Mutation_p.Q142K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.Q231K|FGFR2_uc010qto.2_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.2_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.2_Missense_Mutation_p.Q231K	p.Q212K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	1281	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	212			Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.634C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942640	0.73672	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.17278	0.47	0.80722	D	1	B;B;B;P;B;B;B;P;B;P;B;B	0.42248	0.005;0.238;0.003;0.477;0.022;0.041;0.077;0.586;0.413;0.774;0.002;0.304	B;B;B;B;B;B;B;B;B;B;B;B	0.41917	0.012;0.145;0.008;0.27;0.042;0.037;0.153;0.358;0.37;0.199;0.006;0.337	T	0.49725	-0.8909	10	0.32370	T	0.25	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	231;231;97;212;231;212;123;97;212;231;123;212	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	K	123;212;212;212;97;212;97;212;212;212;123;212;212;123;212	ENSP00000350166:Q123K;ENSP00000358057:Q212K;ENSP00000351276:Q212K;ENSP00000348559:Q97K;ENSP00000358056:Q212K;ENSP00000358055:Q97K;ENSP00000263451:Q212K;ENSP00000410294:Q212K;ENSP00000309878:Q212K;ENSP00000353262:Q123K;ENSP00000358052:Q212K;ENSP00000358054:Q212K;ENSP00000337665:Q123K;ENSP00000352309:Q212K	ENSP00000337665:Q123K	Q	-	1	0	FGFR2	123288210	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.752000	0.98900	2.941000	0.99782	0.655000	0.94253	CAG		0.418	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
SLC22A9	114571	broad.mit.edu	37	11	63141216	63141216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:63141216C>T	ENST00000279178.3	+	3	856	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	203					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTCACTACGCTTCTTGTC	0.458																																						uc001nww.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(607-609)Cgc>Tgc		Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.							183.0	159.0	167.0					11																	63141216		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63141216C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.607C>T	11.37:g.63141216C>T	ENSP00000279178:p.Arg203Cys					SLC22A9_uc001nwx.3_Intron	p.R203C	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			2	875	+			203					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.607C>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109566	0.56398	.	.	ENSG00000149742	ENST00000279178	T	0.70749	-0.51	4.17	3.26	0.37387	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.83115	0.5184	M	0.91510	3.215	0.80722	D	1	D	0.61080	0.989	P	0.59115	0.852	D	0.85380	0.1119	10	0.72032	D	0.01	.	10.0655	0.42301	0.0:0.8991:0.0:0.1009	.	203	Q8IVM8	S22A9_HUMAN	C	203	ENSP00000279178:R203C	ENSP00000279178:R203C	R	+	1	0	SLC22A9	62897792	0.668000	0.27493	0.709000	0.30452	0.251000	0.25915	1.125000	0.31332	1.135000	0.42183	0.388000	0.25769	CGC		0.458	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
TSKU	25987	broad.mit.edu	37	11	76506917	76506917	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:76506917T>G	ENST00000527881.1	+	2	1283	c.257T>G	c.(256-258)tTg>tGg	p.L86W	TSKU_ENST00000333090.4_Missense_Mutation_p.L86W			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	86					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TACACGACGTTGGCTGGCCTG	0.632																																						uc021qno.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(256-258)tTg>tGg		Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.							68.0	52.0	58.0					11																	76506917		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76506917T>G	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.257T>G	11.37:g.76506917T>G	ENSP00000434847:p.Leu86Trp					TSKU_uc001oxt.3_Missense_Mutation_p.L86W	p.L86W	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			0	257	+	Ovarian(111;0.112)		86					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.257T>G	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809258	0.70797	.	.	ENSG00000182704	ENST00000533752;ENST00000333090;ENST00000439807;ENST00000525167;ENST00000527881	T;T;T;T	0.31247	1.5;1.5;2.05;1.5	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.68650	0.3024	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80178	-0.1490	10	0.87932	D	0	-11.8832	13.9691	0.64228	0.0:0.0:0.0:1.0	.	86	Q8WUA8	TSK_HUMAN	W	86	ENSP00000435133:L86W;ENSP00000332668:L86W;ENSP00000434873:L86W;ENSP00000434847:L86W	ENSP00000332668:L86W	L	+	2	0	TSKU	76184565	1.000000	0.71417	0.993000	0.49108	0.571000	0.35966	8.035000	0.88872	1.972000	0.57404	0.528000	0.53228	TTG		0.632	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516	
GPR19	2842	broad.mit.edu	37	12	12814147	12814155	+	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-	rs61733942		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12814147_12814155delATTTGGTGG	ENST00000540510.1	-	2	1420_1428	c.1228_1236delCCACCAAAT	c.(1228-1236)ccaccaaatdel	p.PPN410del	GPR19_ENST00000332427.2_In_Frame_Del_p.PPN410del			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACAAAAGTATTTGGTGGATTTGAGTTA	0.34																																						uc001rar.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1228-1236)ccaccaaatdel		Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.																																				SO:0001651	inframe_deletion	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814147_12814155delATTTGGTGG		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1228_1236delCCACCAAAT	12.37:g.12814147_12814155delATTTGGTGG	ENSP00000441832:p.Pro410_Asn412del					GPR19_uc001raq.2_In_Frame_Del_p.PPN410del|GPR19_uc021qvj.1_In_Frame_Del_p.PPN410del	p.PPN410del	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	1	1421_1429	-		Prostate(47;0.0802)	410					A8K3T3|B0M0K1|Q6NWM4	In_Frame_Del	DEL	ENST00000540510.1	37	c.1228_1236delCCACCAAAT	CCDS8652.1																																																																																				0.340	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143	
CDKN1B	1027	broad.mit.edu	37	12	12871093	12871093	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12871093A>G	ENST00000228872.4	+	1	1036	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.Q107R	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	107					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGGAGAGCCAGGATGTCAGC	0.642																																						uc001rat.2																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(319-321)cAg>cGg		Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.							25.0	34.0	31.0					12																	12871093		2199	4298	6497	SO:0001583	missense	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871093A>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.320A>G	12.37:g.12871093A>G	ENSP00000228872:p.Gln107Arg						p.Q107R	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	0	792	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	107					Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.320A>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	A	8.400	0.841651	0.16963	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	T;T	0.64438	-0.1;-0.1	5.4	-2.15	0.07102	.	0.679769	0.13809	N	0.361280	T	0.38639	0.1048	L	0.34521	1.04	0.25609	N	0.986512	B	0.24675	0.109	B	0.19666	0.026	T	0.14090	-1.0485	10	0.20046	T	0.44	-8.7764	2.1432	0.03780	0.1997:0.2212:0.082:0.4971	.	107	P46527	CDN1B_HUMAN	R	107;56;107	ENSP00000228872:Q107R;ENSP00000379629:Q107R	ENSP00000228872:Q107R	Q	+	2	0	CDKN1B	12762360	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	0.913000	0.28611	-0.013000	0.14199	0.528000	0.53228	CAG		0.642	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	
ITGA7	3679	broad.mit.edu	37	12	56078847	56078847	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56078847C>T	ENST00000555728.1	-	26	3569	c.3541G>A	c.(3541-3543)Gcc>Acc	p.A1181T	ITGA7_ENST00000257879.6_Missense_Mutation_p.A1137T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A1131T|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Missense_Mutation_p.A1044T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A1141T			Q13683	ITA7_HUMAN	integrin, alpha 7	1181					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A1141T(1)|p.A1137T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGAACCTAGGCGGTGCCTGGC	0.697																																						uc001shh.3																			2	Substitution - Missense(2)	p.A1141T(1)|p.A1137T(1)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3421-3423)Gcc>Acc		Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.							19.0	22.0	21.0					12																	56078847		2200	4297	6497	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078847C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3541G>A	12.37:g.56078847C>T	ENSP00000452387:p.Ala1181Thr					ITGA7_uc001shg.3_Missense_Mutation_p.A1137T|ITGA7_uc010sps.2_Missense_Mutation_p.A1044T|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Missense_Mutation_p.A384T|ITGA7_uc009znx.3_Missense_Mutation_p.A1018T	p.A1141T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			24	3641	-			1181					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3421G>A		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876422	0.72180	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.71817	-0.59;-0.59;-0.52;-0.19;-0.6	4.76	4.76	0.60689	.	1.991470	0.02307	N	0.071731	T	0.72843	0.3511	N	0.03608	-0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.996;0.993	T	0.65500	-0.6153	10	0.87932	D	0	.	13.2833	0.60228	0.0:1.0:0.0:0.0	.	1044;1181;1141;1200	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	1141;1137;1131;1044;1181	ENSP00000452120:A1141T;ENSP00000257879:A1137T;ENSP00000343009:A1131T;ENSP00000393844:A1044T;ENSP00000452387:A1181T	ENSP00000257879:A1137T	A	-	1	0	ITGA7	54365114	0.867000	0.29959	0.750000	0.31169	0.009000	0.06853	1.423000	0.34837	2.181000	0.69327	0.555000	0.69702	GCC		0.697	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
ANKRD52	283373	broad.mit.edu	37	12	56639298	56639298	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56639298G>A	ENST00000267116.7	-	21	2388	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	756								p.T756M(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGAATGGGCGTGCGGCCCTT	0.627																																						uc001skm.4																			1	Substitution - Missense(1)	p.T756M(2)	endometrium(1)	endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2266-2268)aCg>aTg		Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.							49.0	54.0	53.0					12																	56639298		2117	4222	6339	SO:0001583	missense	283373						protein binding	g.chr12:56639298G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2267C>T	12.37:g.56639298G>A	ENSP00000267116:p.Thr756Met						p.T756M	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			20	2357	-			756					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2267C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964053	0.74131	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27720	1.65	4.22	4.22	0.49857	Ankyrin repeat-containing domain (4);	0.060098	0.64402	D	0.000004	T	0.61578	0.2358	M	0.89214	3.015	0.54753	D	0.999984	D	0.89917	1.0	D	0.80764	0.994	T	0.71248	-0.4649	10	0.87932	D	0	.	15.8836	0.79222	0.0:0.0:1.0:0.0	.	756	Q8NB46	ANR52_HUMAN	M	756	ENSP00000267116:T756M	ENSP00000267116:T756M	T	-	2	0	ANKRD52	54925565	1.000000	0.71417	0.957000	0.39632	0.922000	0.55478	7.425000	0.80255	2.362000	0.80069	0.491000	0.48974	ACG		0.627	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
ACADS	35	broad.mit.edu	37	12	121176680	121176680	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:121176680G>A	ENST00000242592.4	+	8	1142	c.991G>A	c.(991-993)Gct>Act	p.A331T	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.A327T	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	331					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GACCTGGCGCGCTGCCATGCT	0.637																																						uc001tza.4																			0		p.R330H(2)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM083801	ACADS	M		c.(991-993)Gct>Act		Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						46.0	51.0	49.0					12																	121176680		2203	4299	6502	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176680G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.991G>A	12.37:g.121176680G>A	ENSP00000242592:p.Ala331Thr					ACADS_uc010szl.1_Missense_Mutation_p.A327T	p.A331T	NM_000017	NP_000008	P16219	ACADS_HUMAN			7	1109	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	331					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.991G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159134	0.94686	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.97303	-4.33;-4.33	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.991	D	0.99780	1.1027	10	0.87932	D	0	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	327;331;331	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	T	331;327	ENSP00000242592:A331T;ENSP00000401045:A327T	ENSP00000242592:A331T	A	+	1	0	ACADS	119661063	1.000000	0.71417	0.160000	0.22671	0.896000	0.52359	9.462000	0.97649	2.125000	0.65367	0.561000	0.74099	GCT		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	
WDR66	144406	broad.mit.edu	37	12	122437781	122437781	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:122437781G>A	ENST00000288912.4	+	20	4020	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1056							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3166-3168)Ggt>Agt		Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.							103.0	96.0	98.0					12																	122437781		1892	4127	6019	SO:0001583	missense	144406						calcium ion binding	g.chr12:122437781G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3166G>A	12.37:g.122437781G>A	ENSP00000288912:p.Gly1056Ser						p.G1056S	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	19	3325	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1056					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.3166G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945225	0.53079	.	.	ENSG00000158023	ENST00000288912	T	0.06068	3.35	5.31	5.31	0.75309	.	0.055969	0.64402	D	0.000001	T	0.11793	0.0287	M	0.76838	2.35	0.80722	D	1	P	0.34780	0.468	B	0.28139	0.086	T	0.01894	-1.1252	10	0.62326	D	0.03	.	17.7641	0.88471	0.0:0.0:1.0:0.0	.	1056	Q8TBY9	WDR66_HUMAN	S	1056	ENSP00000288912:G1056S	ENSP00000288912:G1056S	G	+	1	0	WDR66	120922164	1.000000	0.71417	0.121000	0.21740	0.397000	0.30659	6.637000	0.74304	2.487000	0.83934	0.655000	0.94253	GGT		0.448	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
TNFSF11	8600	broad.mit.edu	37	13	43180986	43180986	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:43180986C>T	ENST00000239849.6	+	5	1037	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	TNFSF11_ENST00000544862.1_Missense_Mutation_p.P223S|TNFSF11_ENST00000358545.2_Missense_Mutation_p.P223S|TNFSF11_ENST00000405262.2_Missense_Mutation_p.P223S|TNFSF11_ENST00000398795.2_Missense_Mutation_p.P223S			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	296					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	GGTCTCCAACCCCTCCTTACT	0.418																																						uc001uyu.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(886-888)Ccc>Tcc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.							97.0	99.0	98.0					13																	43180986		2203	4300	6503	SO:0001583	missense	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180986C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.886C>T	13.37:g.43180986C>T	ENSP00000239849:p.Pro296Ser					TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	p.P296S	NM_003701	NP_143026	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	4	1035	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	296					O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.886C>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126389	0.20959	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.74	5.74	0.90152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.115003	0.64402	D	0.000013	T	0.53238	0.1784	L	0.33189	0.99	0.48901	D	0.999725	P	0.48640	0.913	P	0.45138	0.471	T	0.44742	-0.9308	10	0.18276	T	0.48	-10.0973	13.5017	0.61459	0.0:0.9286:0.0:0.0714	.	296	O14788	TNF11_HUMAN	S	223;223;296;223;223	ENSP00000351347:P223S;ENSP00000384042:P223S;ENSP00000239849:P296S;ENSP00000381775:P223S;ENSP00000444913:P223S	ENSP00000239849:P296S	P	+	1	0	TNFSF11	42078986	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	2.768000	0.47645	2.873000	0.98535	0.563000	0.77884	CCC		0.418	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2		
RB1	5925	broad.mit.edu	37	13	49033967	49033967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:49033967C>T	ENST00000267163.4	+	20	2242	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.Q702*(2)|p.Q702K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCATTTGGACCAAGTAAGAAA	0.398		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		30	Whole gene deletion(15)|Unknown(12)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.0?(15)|p.?(12)|p.Q702*(4)|p.Q702K(2)	bone(10)|breast(6)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM030513	RB1	M		c.(2104-2106)Caa>Taa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						71.0	64.0	67.0					13																	49033967		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033967C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2104C>T	13.37:g.49033967C>T	ENSP00000267163:p.Gln702*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q702*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2270	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	702			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2104C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003253	0.98605	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7392	19.3477	0.94372	0.0:1.0:0.0:0.0	.	.	.	.	X	681;702	.	ENSP00000267163:Q702X	Q	+	1	0	RB1	47931968	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.581000	0.87130	0.585000	0.79938	CAA		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						uc001vwc.3																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					POTEM_uc001vwb.3_Non-coding_Transcript|P712P_uc001vwd.3_Non-coding_Transcript	p.V308A	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			4	975	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442	
HCN4	10021	broad.mit.edu	37	15	73614906	73614906	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr15:73614906C>T	ENST00000261917.3	-	8	4521	c.3528G>A	c.(3526-3528)ggG>ggA	p.G1176G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1176					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGGGCCCCCCAGAAGAGG	0.627																																						uc002avp.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3526-3528)ggG>ggA		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.							16.0	18.0	17.0					15																	73614906		2196	4289	6485	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614906C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3528G>A	15.37:g.73614906C>T							p.G1176G	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	4522	-			1176					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.3528G>A	CCDS10248.1																																																																																				0.627	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
ACSM5	54988	broad.mit.edu	37	16	20439127	20439127	+	Silent	SNP	G	G	A	rs12922063		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:20439127G>A	ENST00000331849.4	+	7	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	313					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473																																						uc002dhe.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(937-939)ccG>ccA		Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.							228.0	205.0	212.0					16																	20439127		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20439127G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.939G>A	16.37:g.20439127G>A							p.P313P	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			6	1086	+			313					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.939G>A	CCDS10585.1																																																																																				0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																						uc010cap.1																			0		p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(385-387)tcG>tcA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							39.0	34.0	36.0					16																	31409190		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409190G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A						ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	p.S129S	NM_005353	NP_005344	Q13349	ITAD_HUMAN			4	436	+			129					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.387G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
CES1P1	51716	broad.mit.edu	37	16	55803916	55803916	+	RNA	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:55803916G>A	ENST00000571348.1	+	0	491					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GGTGGGTGCGGCATCAACCTA	0.562																																						uc002eik.3																			0											c.(40-42)Gca>Aca		Homo sapiens carboxylesterase 1 pseudogene 1 (CES1P1), non-coding RNA.																																						51716							g.chr16:55803916G>A	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55803916G>A						CES1P1_uc010cce.3_Missense_Mutation_p.A14T	p.A14T							3	491	+								A2RRL8|B9ZVS2	Missense_Mutation	SNP	ENST00000571348.1	37	c.40G>A																																																																																					0.562	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276	
CETP	1071	broad.mit.edu	37	16	57007243	57007243	+	Splice_Site	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:57007243G>A	ENST00000566128.1	+	9	823	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	CETP_ENST00000200676.3_Splice_Site_p.G251S|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Intron					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCCTCCAGGGTCATTTCAT	0.597																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.e9-1		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							63.0	64.0	63.0					16																	57007243		2198	4300	6498	SO:0001630	splice_region_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57007243G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.556-1G>A	16.37:g.57007243G>A						CETP_uc002ekj.2_Intron	p.G251_splice	NM_000078	NP_000069	P11597	CETP_HUMAN			9	808	+			251						Missense_Mutation	SNP	ENST00000566128.1	37	c.751_splice		.	.	.	.	.	.	.	.	.	.	G	19.38	3.817338	0.70912	.	.	ENSG00000087237	ENST00000200676	T	0.26223	1.75	3.7	3.7	0.42460	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.36672	1.1	0.44155	D	0.996958	D	0.89917	1.0	D	0.97110	1.0	T	0.07009	-1.0795	9	.	.	.	-6.1472	12.157	0.54083	0.0:0.0:1.0:0.0	.	251	P11597	CETP_HUMAN	S	251	ENSP00000200676:G251S	.	G	+	1	0	CETP	55564744	1.000000	0.71417	0.899000	0.35326	0.161000	0.22273	4.732000	0.62029	1.614000	0.50241	0.313000	0.20887	GGT		0.597	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248Q	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	broad.mit.edu	37	17	29586049	29586049	+	Splice_Site	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:29586049G>A	ENST00000358273.4	+	33	4715		c.e33-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTGTGTAGATACTTCAGA	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e33-1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							34.0	30.0	32.0					17																	29586049		2202	4298	6500	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29586049G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4333-1G>A	17.37:g.29586049G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	p.I1445_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4716	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1445			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.4333_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657589	0.67586	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26610175	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.306000	0.78905	2.732000	0.93576	0.555000	0.69702	.		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
BZRAP1	9256	broad.mit.edu	37	17	56382781	56382781	+	Silent	SNP	C	C	A	rs149705380	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:56382781C>A	ENST00000343736.4	-	29	5563	c.5400G>T	c.(5398-5400)gtG>gtT	p.V1800V	BZRAP1_ENST00000268893.6_Silent_p.V1740V|BZRAP1_ENST00000355701.3_Silent_p.V1800V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1800	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCCCAAACACAGTAATGA	0.587																																						uc002ivx.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5398-5400)gtG>gtT		Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.							122.0	111.0	114.0					17																	56382781		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382781C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5400G>T	17.37:g.56382781C>A						BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.V32V|BZRAP1_uc010dcs.3_Silent_p.V1740V|BZRAP1_uc010wnt.2_Silent_p.V1791V	p.V1800V	NM_004758	NP_004749	O95153	RIMB1_HUMAN			28	6271	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1800			SH3 3.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.5400G>T	CCDS11605.1																																																																																				0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
ITGB4	3691	broad.mit.edu	37	17	73729694	73729694	+	Silent	SNP	C	C	T	rs563096686	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:73729694C>T	ENST00000200181.3	+	13	1765	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.Y526Y|ITGB4_ENST00000339591.3_Silent_p.Y526Y|ITGB4_ENST00000449880.2_Silent_p.Y526Y|ITGB4_ENST00000579662.1_Silent_p.Y526Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	526	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGTGCTACGGCGAAGGCC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		13975	0.002		0.0	False		,,,				2504	0.0					uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1576-1578)taC>taT		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.							85.0	69.0	75.0					17																	73729694		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729694C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1578C>T	17.37:g.73729694C>T						ITGB4_uc002jph.3_Silent_p.Y526Y|ITGB4_uc010dgo.3_Silent_p.Y526Y|ITGB4_uc002jpi.4_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.3_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	p.Y526Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1765	+	all_cancers(13;1.5e-07)		526			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1578C>T	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
TMEM241	85019	broad.mit.edu	37	18	20889649	20889649	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr18:20889649C>T	ENST00000383233.3	-	14	877	c.825G>A	c.(823-825)acG>acA	p.T275T	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Silent_p.T154T|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	275						integral component of membrane (GO:0016021)		p.T275T(1)									CTTACCATCCCGTGGTTGCAC	0.398																																						uc002kuf.3																			1	Substitution - coding silent(1)	p.T275T(1)	lung(1)								c.(823-825)acG>acA		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							139.0	129.0	132.0					18																	20889649		1938	4143	6081	SO:0001819	synonymous_variant	85019					integral to membrane		g.chr18:20889649C>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.825G>A	18.37:g.20889649C>T						TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	p.T275T	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			13	934	-			275					I0J130|Q6ZTS7|Q6ZW41	Silent	SNP	ENST00000383233.3	37	c.825G>A	CCDS11876.2																																																																																				0.398	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	
PEX11G	92960	broad.mit.edu	37	19	7542216	7542217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:7542216_7542217insC	ENST00000221480.1	-	5	605_606	c.597_598insG	c.(595-600)ctgcccfs	p.P200fs	PEX11G_ENST00000593942.1_Frame_Shift_Ins_p.P130fs|PEX11G_ENST00000599519.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	200					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ACGCCCCGGGGCAGCCAGTGCA	0.713																																						uc002mgk.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						c.(595-600)ctgcccfs		Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.																																				SO:0001589	frameshift_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7542216_7542217insC	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.598dupG	19.37:g.7542217_7542217dupC	ENSP00000221480:p.Pro200fs					PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	p.L199fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN			4	606_607	-			199					Q8NDM0	Frame_Shift_Ins	INS	ENST00000221480.1	37	c.597_598insG	CCDS12178.1																																																																																				0.713	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662	
ZNF99	7652	broad.mit.edu	37	19	22940645	22940645	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:22940645A>T	ENST00000596209.1	-	4	2156	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.F598Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGCTGAGAAATGGTTAAA	0.368																																						uc021urt.1																			0		p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)tTc>tAc		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							46.0	49.0	48.0					19																	22940645		2079	4231	6310	SO:0001583	missense	7652							g.chr19:22940645A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2066T>A	19.37:g.22940645A>T	ENSP00000472969:p.Phe689Tyr						p.F689Y	NM_001080409	NP_001073878					3	2221	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2066T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-2.935369	0.00053	.	.	ENSG00000213973	ENST00000397104	T	0.36157	1.27	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	D	0.53151	0.958	B	0.40782	0.34	T	0.11792	-1.0573	9	0.07644	T	0.81	.	0.9335	0.01340	0.4449:0.2409:0.1531:0.1611	.	598	A8MXY4	ZNF99_HUMAN	Y	598	ENSP00000380293:F598Y	ENSP00000380293:F598Y	F	-	2	0	ZNF99	22732485	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.857000	0.04286	-1.442000	0.01955	-0.548000	0.04221	TTC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
KIAA0355	9710	broad.mit.edu	37	19	34819037	34819037	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:34819037A>G	ENST00000299505.6	+	6	1958	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	362										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGGCCGCCGACAATCTGAAA	0.512																																						uc002nvd.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1084-1086)gAc>gGc		Homo sapiens KIAA0355 (KIAA0355), mRNA.							52.0	55.0	54.0					19																	34819037		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34819037A>G		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1085A>G	19.37:g.34819037A>G	ENSP00000299505:p.Asp362Gly						p.D362G	NM_014686	NP_055501	O15063	K0355_HUMAN			5	1944	+	Esophageal squamous(110;0.162)		362					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.1085A>G	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834444	0.71373	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	5.55	0.83447	.	0.056995	0.64402	D	0.000002	T	0.40815	0.1132	N	0.14661	0.345	0.54753	D	0.999984	P	0.37330	0.59	B	0.38803	0.282	T	0.48514	-0.9029	9	0.87932	D	0	-21.3501	15.7122	0.77641	1.0:0.0:0.0:0.0	.	362	O15063	K0355_HUMAN	G	362;65	.	ENSP00000299505:D362G	D	+	2	0	KIAA0355	39510877	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.891000	0.92485	2.123000	0.65237	0.445000	0.29226	GAC		0.512	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
DPF1	8193	broad.mit.edu	37	19	38713080	38713080	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:38713080G>A	ENST00000420980.2	-	3	322	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DPF1_ENST00000355526.4_Missense_Mutation_p.T99M|DPF1_ENST00000416611.1_Missense_Mutation_p.T73M|DPF1_ENST00000412732.1_Missense_Mutation_p.T17M|DPF1_ENST00000456296.1_Missense_Mutation_p.T73M|DPF1_ENST00000414789.1_Missense_Mutation_p.T17M	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	99					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGGGGTACGTGTAAATCTG	0.697																																						uc021uty.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(295-297)aCg>aTg		Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.							95.0	95.0	95.0					19																	38713080		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713080G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.296C>T	19.37:g.38713080G>A	ENSP00000397354:p.Thr99Met					DPF1_uc002ohm.3_Missense_Mutation_p.T99M|DPF1_uc002ohl.3_Missense_Mutation_p.T99M|DPF1_uc002ohn.3_Missense_Mutation_p.T17M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	p.T99M	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	323	-	all_cancers(60;1.24e-06)		99					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.296C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	20.9	4.062444	0.76187	.	.	ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365	D;D;D;D;D;T	0.91351	-2.32;-2.83;-2.32;-2.83;-2.78;2.14	3.36	3.36	0.38483	.	0.081264	0.46442	D	0.000294	D	0.94650	0.8275	M	0.78049	2.395	0.49483	D	0.999795	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.87578	0.998;0.83;0.988;0.994;0.99;0.967	D	0.95274	0.8380	10	0.87932	D	0	-10.7018	14.021	0.64555	0.0:0.0:1.0:0.0	.	73;73;72;99;99;99	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.;.;.;.;.;DPF1_HUMAN	M	99;99;17;73;17;73;17;73;17	ENSP00000397354:T99M;ENSP00000412098:T17M;ENSP00000390223:T73M;ENSP00000391884:T17M;ENSP00000411569:T73M;ENSP00000416347:T17M	ENSP00000412098:T17M	T	-	2	0	DPF1	43404920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.045000	0.76585	1.902000	0.55061	0.394000	0.25966	ACG		0.697	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1		
FAM126B	285172	broad.mit.edu	37	2	201857004	201857004	+	Splice_Site	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:201857004C>T	ENST00000418596.3	-	10	1018	c.831G>A	c.(829-831)ttG>ttA	p.L277L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	277						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AATAACTTACCAATAGTGGTT	0.333																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e10+1		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							63.0	70.0	67.0					2																	201857004		2203	4300	6503	SO:0001630	splice_region_variant	285172					intracellular		g.chr2:201857004C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.831+1G>A	2.37:g.201857004C>T						FAM126B_uc002uwu.3_Splice_Site_p.L195_splice|FAM126B_uc002uwv.3_Splice_Site_p.L277_splice	p.L277_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			10	1019	-			277					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.831_splice	CCDS2335.1																																																																																				0.333	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	Silent
IRS1	3667	broad.mit.edu	37	2	227662172	227662172	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:227662172G>A	ENST00000305123.5	-	1	2303	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	428	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S428L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACTCATCCGAGGAGATGAA	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021vxn.1																			1	Substitution - Missense(1)	p.S428L(2)	central_nervous_system(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1282-1284)tCg>tTg		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							80.0	87.0	85.0					2																	227662172		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662172G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1283C>T	2.37:g.227662172G>A	ENSP00000304895:p.Ser428Leu		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc002voh.4_Missense_Mutation_p.S428L	p.S428L	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	1283	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	428			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1283C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	7.418	0.636145	0.14386	.	.	ENSG00000169047	ENST00000305123	T	0.59083	0.29	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.58779	0.2146	N	0.20685	0.6	0.47659	D	0.999485	D	0.71674	0.998	P	0.57679	0.825	T	0.54057	-0.8350	10	0.22706	T	0.39	-18.0589	19.6195	0.95650	0.0:0.0:1.0:0.0	.	428	P35568	IRS1_HUMAN	L	428	ENSP00000304895:S428L	ENSP00000304895:S428L	S	-	2	0	IRS1	227370416	1.000000	0.71417	0.923000	0.36655	0.596000	0.36781	6.265000	0.72534	2.633000	0.89246	0.561000	0.74099	TCG		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
TAF4	6874	broad.mit.edu	37	20	60581775	60581775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr20:60581775C>T	ENST00000252996.4	-	7	2013	c.2014G>A	c.(2014-2016)Gcg>Acg	p.A672T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	672	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGAAGGCCGCGGAGTCGGGG	0.662																																						uc002ybs.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2014-2016)Gcg>Acg		Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.							27.0	36.0	33.0					20																	60581775		2192	4270	6462	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581775C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2014G>A	20.37:g.60581775C>T	ENSP00000252996:p.Ala672Thr						p.A672T	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		6	2014	-	Breast(26;1e-08)		672			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2014G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680459	0.68042	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.43688	0.94;0.94	5.46	5.46	0.80206	TAFH/NHR1 (3);	0.249728	0.39083	N	0.001477	T	0.33789	0.0875	N	0.19112	0.55	0.47737	D	0.999508	B	0.34329	0.449	B	0.38458	0.274	T	0.07290	-1.0780	10	0.15952	T	0.53	-19.5168	19.2974	0.94128	0.0:1.0:0.0:0.0	.	672	O00268	TAF4_HUMAN	T	672;536	ENSP00000252996:A672T;ENSP00000399091:A536T	ENSP00000252996:A672T	A	-	1	0	TAF4	60015170	0.987000	0.35691	0.985000	0.45067	0.994000	0.84299	2.790000	0.47821	2.550000	0.86006	0.563000	0.77884	GCG		0.662	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
KRTAP6-3	337968	broad.mit.edu	37	21	31964779	31964779	+	5'UTR	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr21:31964779C>A	ENST00000391624.1	+	0	21				KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3							intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCTCAACAACCAACACCATGT	0.522																																						uc002yom.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						c.(13-15)acC>acA		Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.							125.0	124.0	125.0					21																	31964779		2203	4300	6503	SO:0001623	5_prime_UTR_variant	337968							g.chr21:31964779C>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.-7C>A	21.37:g.31964779C>A						KRTAP22-2_uc021wih.1_5'Flank	p.T5T	NM_181605	NP_853636					0	21	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.15C>A																																																																																					0.522	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605	
FLNB	2317	broad.mit.edu	37	3	58140654	58140654	+	Splice_Site	SNP	T	T	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:58140654T>C	ENST00000295956.4	+	40	6936	c.6771T>C	c.(6769-6771)ccT>ccC	p.P2257P	FLNB_ENST00000490882.1_Splice_Site_p.P2288P|FLNB_ENST00000493452.1_Splice_Site_p.P2064P|FLNB_ENST00000358537.3_Splice_Site_p.P2233P|FLNB_ENST00000348383.5_Splice_Site_p.P2216P|FLNB_ENST00000419752.2_Splice_Site_p.P2077P|FLNB_ENST00000429972.2_Splice_Site_p.P2246P|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2257	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G2258fs*36(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGAGCCTGGTATGTATT	0.453																																						uc003djj.2																			1	Deletion - Frameshift(1)	p.G2258fs*36(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e40+1		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.							65.0	65.0	65.0					3																	58140654		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58140654T>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6772+1T>C	3.37:g.58140654T>C						FLNB_uc010hne.2_Splice_Site_p.G2289_splice|FLNB_uc003djk.2_Splice_Site_p.G2247_splice|FLNB_uc010hnf.2_Splice_Site_p.G2234_splice|FLNB_uc003djl.2_Splice_Site_p.G2078_splice|FLNB_uc003djm.2_Splice_Site_p.G2065_splice	p.G2258_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	40	6937	+			2258			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.6772_splice	CCDS2885.1																																																																																				0.453	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Silent
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T	rs377402243		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323																																						uc003dyu.3																			1	Substitution - Missense(1)	p.R1064Q(1)	skin(1)								c.(3190-3192)cGa>cAa		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.		C	GLN/ARG	0,4404		0,0,2202	125.0	131.0	129.0		3191	0.7	0.1	3		129	2,8596	2.2+/-6.3	0,2,4297	no	missense	SLC9A10	NM_183061.1	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1064/1178	111887770	2,13000	2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887770C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3191G>A	3.37:g.111887770C>T	ENSP00000306627:p.Arg1064Gln					SLC9C1_uc011bhu.2_Missense_Mutation_p.R327Q|SLC9C1_uc010hqc.3_Missense_Mutation_p.R1016Q	p.R1064Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			24	3413	-			1064					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3191G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731570	0.15507	0.0	2.33E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78246	-1.16;-1.16	6.06	0.733	0.18289	.	0.677608	0.13656	N	0.371958	T	0.61048	0.2316	L	0.31926	0.97	0.24446	N	0.994508	P;P	0.45176	0.608;0.852	B;B	0.34301	0.179;0.032	T	0.51268	-0.8727	10	0.46703	T	0.11	0.5387	9.0873	0.36590	0.0:0.5854:0.0:0.4146	.	1016;1064	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	1064;1016	ENSP00000306627:R1064Q;ENSP00000420688:R1016Q	ENSP00000306627:R1064Q	R	-	2	0	SLC9A10	113370460	0.376000	0.25098	0.116000	0.21606	0.014000	0.08584	0.358000	0.20216	0.168000	0.19655	-0.808000	0.03180	CGA		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
HLTF	6596	broad.mit.edu	37	3	148804115	148804115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:148804115C>T	ENST00000310053.5	-	1	202	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.W3*|HLTF_ENST00000481663.1_5'UTR|HLTF-AS1_ENST00000492461.1_RNA|HLTF_ENST00000392912.2_Nonsense_Mutation_p.W3*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.W3*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	3					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTGAACATCCAGGACATGG	0.652																																						uc003ewq.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(7-9)tgG>tgA		Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.							28.0	28.0	28.0					3																	148804115		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148804115C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.9G>A	3.37:g.148804115C>T	ENSP00000308944:p.Trp3*					HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	p.W3*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		0	227	-			3					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.9G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.259822	0.98171	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	.	.	.	4.72	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1215	6.1823	0.20478	0.1827:0.7217:0.0:0.0956	.	.	.	.	X	3	.	ENSP00000308944:W3X	W	-	3	0	HLTF	150286805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.234000	0.32660	0.690000	0.31570	0.655000	0.94253	TGG		0.652	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LARP1B	55132	broad.mit.edu	37	4	129003366	129003366	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr4:129003366A>G	ENST00000326639.6	+	5	475	c.264A>G	c.(262-264)tcA>tcG	p.S88S	LARP1B_ENST00000427266.1_Silent_p.S88S|LARP1B_ENST00000512292.1_Silent_p.S88S|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.S88S|LARP1B_ENST00000394288.3_Silent_p.S88S|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Silent_p.S88S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	88						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTAAGATCAGAGAGTCAAG	0.373																																						uc003iga.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(262-264)tcA>tcG		Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.							103.0	101.0	101.0					4																	129003366		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129003366A>G		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.264A>G	4.37:g.129003366A>G						LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.3_Silent_p.S88S|LARP1B_uc003ify.3_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	p.S88S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			4	395	+			88					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.264A>G	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337215	0.24253	.	.	ENSG00000138709	ENST00000507377	.	.	.	4.49	2.02	0.26589	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53251	-0.8465	4	.	.	.	.	8.2238	0.31558	0.7355:0.1345:0.0:0.13	.	.	.	.	G	57	.	.	R	+	1	2	LARP1B	129222816	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.527000	0.35975	1.902000	0.55061	0.374000	0.22700	AGA		0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
PCDHA1	56147	broad.mit.edu	37	5	140167909	140167909	+	Silent	SNP	G	G	A	rs562110007		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:140167909G>A	ENST00000504120.2	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA1_ENST00000378133.3_Silent_p.A678A|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	678	Cadherin 6. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A678A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662													.|||	1	0.000199681	0.0	0.0	5008	,	,		16213	0.0		0.001	False		,,,				2504	0.0					uc003lhb.2																			2	Substitution - coding silent(2)	p.A678A(2)	prostate(2)	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.(2032-2034)gcG>gcA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							42.0	47.0	45.0					5																	140167909		2201	4300	6501	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167909G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2034G>A	5.37:g.140167909G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A678A	p.A678A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2034	+			687			Cadherin 6.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2034G>A	CCDS54913.1																																																																																				0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
HRH2	3274	broad.mit.edu	37	5	175110363	175110363	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:175110363G>A	ENST00000231683.2	+	1	1900	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	HRH2_ENST00000377291.2_Missense_Mutation_p.V43M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	43					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTGTCTGGCCGTGGGCTTGAA	0.587																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(127-129)Gtg>Atg		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						202.0	174.0	184.0					5																	175110363		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110363G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.127G>A	5.37:g.175110363G>A	ENSP00000231683:p.Val43Met					HRH2_uc003mdd.2_Missense_Mutation_p.V43M	p.V43M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	771	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	43					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.127G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352568	0.82132	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.40225	1.04;1.04	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.952;0.998	D	0.84499	0.0615	10	0.72032	D	0.01	.	18.0413	0.89319	0.0:0.0:1.0:0.0	.	43;43	P25021;Q7Z5R9	HRH2_HUMAN;.	M	43	ENSP00000366506:V43M;ENSP00000231683:V43M	ENSP00000231683:V43M	V	+	1	0	HRH2	175042969	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	7.962000	0.87912	2.519000	0.84933	0.462000	0.41574	GTG		0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
SEMA3C	10512	broad.mit.edu	37	7	80546078	80546078	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:80546078C>A	ENST00000265361.3	-	2	581	c.20G>T	c.(19-21)tGc>tTc	p.C7F	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C7F|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.C25F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	7					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACCAACACGCAAATTGTCCG	0.353																																						uc011kgw.2																			0		p.P25H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(73-75)tGc>tTc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							115.0	107.0	110.0					7																	80546078		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546078C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.20G>T	7.37:g.80546078C>A	ENSP00000265361:p.Cys7Phe					SEMA3C_uc003uhj.3_Missense_Mutation_p.C7F|SEMA3C_uc011kgx.1_5'UTR	p.C25F	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			1	153	-			7					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.74G>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037530	0.07497	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.25250	1.81;1.81;1.81	5.39	-0.792	0.10925	.	1.089520	0.06801	N	0.788789	T	0.10981	0.0268	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28427	-1.0044	10	0.37606	T	0.19	.	1.3858	0.02240	0.523:0.1533:0.1603:0.1634	.	25;7	F5H1Z7;Q99985	.;SEM3C_HUMAN	F	7;7;25	ENSP00000265361:C7F;ENSP00000411193:C7F;ENSP00000445649:C25F	ENSP00000265361:C7F	C	-	2	0	SEMA3C	80384014	0.009000	0.17119	0.000000	0.03702	0.251000	0.25915	0.617000	0.24359	-0.287000	0.09064	0.650000	0.86243	TGC		0.353	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
PDIA4	9601	broad.mit.edu	37	7	148703125	148703125	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:148703125G>A	ENST00000286091.4	-	8	1384	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	384					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGTCCTTGATGGCCGAGTCCT	0.592											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003wff.2																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1150-1152)gcC>gcT		Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.							49.0	49.0	49.0					7																	148703125		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148703125G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1152C>T	7.37:g.148703125G>A			OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.A384A	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		7	1434	-	Melanoma(164;0.15)		384					A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1152C>T	CCDS5893.1																																																																																				0.592	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
ZDHHC2	51201	broad.mit.edu	37	8	17072848	17072848	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:17072848A>G	ENST00000262096.8	+	11	1748	c.1053A>G	c.(1051-1053)aaA>aaG	p.K351K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	351					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCCAGGAAAATGCAAAGCTG	0.403																																						uc003wxe.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(1051-1053)aaA>aaG		Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.							66.0	66.0	66.0					8																	17072848		1870	4108	5978	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17072848A>G	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.1053A>G	8.37:g.17072848A>G							p.K351K	NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	10	1450	+			351					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.1053A>G	CCDS47810.1																																																																																				0.403	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	
FBXO16	157574	broad.mit.edu	37	8	28321322	28321322	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:28321322G>T	ENST00000380254.2	-	4	297	c.149C>A	c.(148-150)aCa>aAa	p.T50K	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.T38K|FBXO16_ENST00000346498.2_Missense_Mutation_p.T38K	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	50										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTGAGAGTCTGTCCATTTGTC	0.428																																						uc003xgu.3																			0				large_intestine(2)|ovary(1)	3						c.(148-150)aCa>aAa		Homo sapiens F-box protein 16 (FBXO16), mRNA.							38.0	39.0	39.0					8																	28321322		2203	4299	6502	SO:0001583	missense	157574							g.chr8:28321322G>T	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.149C>A	8.37:g.28321322G>T	ENSP00000369604:p.Thr50Lys					ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T37K	p.T50K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	3	247	-		Ovarian(32;2.06e-05)	50					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.149C>A	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632297	0.87660	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.45668	2.42;2.33;2.36;0.89	5.78	5.78	0.91487	.	0.152933	0.42964	U	0.000636	T	0.53334	0.1790	M	0.66939	2.045	0.80722	D	1	P;P;P	0.52842	0.745;0.956;0.956	B;P;P	0.48368	0.372;0.575;0.575	T	0.56643	-0.7945	10	0.72032	D	0.01	-38.8957	19.3632	0.94451	0.0:0.0:1.0:0.0	.	38;38;50	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	K	50;38;38;50	ENSP00000369604:T50K;ENSP00000341416:T38K;ENSP00000429687:T38K;ENSP00000429390:T50K	ENSP00000341416:T38K	T	-	2	0	FBXO16	28377241	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.424000	0.97464	2.894000	0.99253	0.591000	0.81541	ACA		0.428	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	
KIAA0020	9933	broad.mit.edu	37	9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	rs62534389		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:2829854C>T	ENST00000397885.2	-	8	978	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	258	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(772-774)Gca>Aca		Homo sapiens KIAA0020 (KIAA0020), mRNA.							253.0	226.0	235.0					9																	2829854		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829854C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.772G>A	9.37:g.2829854C>T	ENSP00000380982:p.Ala258Thr					KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	p.A258T	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	7	868	-			258			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.772G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148685	0.78001	.	.	ENSG00000080608	ENST00000397885	T	0.64085	-0.08	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.987	P;P	0.56088	0.791;0.701	T	0.78437	-0.2204	10	0.56958	D	0.05	-23.3131	20.8794	0.99867	0.0:1.0:0.0:0.0	.	118;258	B2RDG4;Q15397	.;K0020_HUMAN	T	258	ENSP00000380982:A258T	ENSP00000380982:A258T	A	-	1	0	KIAA0020	2819854	1.000000	0.71417	0.272000	0.24630	0.069000	0.16628	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	GCA		0.458	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
FAM219A	203259	broad.mit.edu	37	9	34401054	34401054	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:34401054C>T	ENST00000445726.1	-	6	772	c.466G>A	c.(466-468)Gac>Aac	p.D156N	FAM219A_ENST00000379084.1_Missense_Mutation_p.D138N|FAM219A_ENST00000297620.4_Missense_Mutation_p.D139N|FAM219A_ENST00000379089.1_Missense_Mutation_p.D154N|FAM219A_ENST00000379080.1_Missense_Mutation_p.D143N|FAM219A_ENST00000379081.1_Missense_Mutation_p.D127N|FAM219A_ENST00000379087.1_Missense_Mutation_p.D137N	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	156																	AGGTCCTCGTCGTCGGGGATC	0.617																																						uc011lok.2																			0											c.(466-468)Gac>Aac		Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.							125.0	110.0	115.0					9																	34401054		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34401054C>T	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.466G>A	9.37:g.34401054C>T	ENSP00000392452:p.Asp156Asn					FAM219A_uc003zuj.3_Missense_Mutation_p.D139N|FAM219A_uc011lol.2_Missense_Mutation_p.D144N|FAM219A_uc003zul.3_Missense_Mutation_p.D127N|FAM219A_uc022bgc.1_Missense_Mutation_p.D155N|FAM219A_uc022bgd.1_Missense_Mutation_p.D138N|FAM219A_uc003zuk.3_Missense_Mutation_p.D128N	p.D156N	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN			5	773	-			156					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.466G>A	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829958	0.96996	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409	.	.	.	5.44	5.44	0.79542	.	0.043625	0.85682	D	0.000000	D	0.83732	0.5318	M	0.83483	2.645	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.999;0.89	D;D;D;D;B	0.91635	0.999;0.996;0.998;0.994;0.258	D	0.85998	0.1493	9	0.87932	D	0	-10.5544	18.2613	0.90037	0.0:1.0:0.0:0.0	.	144;156;127;128;139	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	N	154;137;138;127;143;156;139;155	.	ENSP00000297620:D139N	D	-	1	0	C9orf25	34391054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.551000	0.86045	0.655000	0.94253	GAC		0.617	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940	
SPATA31C1	441452	broad.mit.edu	37	9	90537820	90537820	+	RNA	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:90537820G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAATGAAGGCGTCCAGCTACT	0.408																																						uc010mqi.3																			0											c.(2998-3000)Gtc>Atc		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							42.0	43.0	43.0					9																	90537820		692	1591	2283			441452							g.chr9:90537820G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537820G>A						FAM75C1_uc004apq.4_Missense_Mutation_p.V983I|DQ578031_uc022bjg.1_5'Flank	p.V1000I	NM_001145124	NP_001138596					3	3027	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2998G>A																																																																																					0.408	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
EGFL7	51162	broad.mit.edu	37	9	139564727	139564727	+	Silent	SNP	C	C	T	rs374085521		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:139564727C>T	ENST00000371699.1	+	7	1427	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EGFL7_ENST00000406555.3_Silent_p.D172D|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000308874.7_Silent_p.D172D|EGFL7_ENST00000371698.3_Silent_p.D172D|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	172	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTCTGCAGACGGTACACTCT	0.677																																						uc004cid.3																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(514-516)gaC>gaT		Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.		T	,	0,4378		0,0,2189	22.0	24.0	23.0		516,516	-9.6	0.0	9		23	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	EGFL7	NM_016215.4,NM_201446.2	,	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	,	172/274,172/274	139564727	1,12969	2189	4296	6485	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564727C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.516C>T	9.37:g.139564727C>T						EGFL7_uc010nbp.3_Silent_p.D172D|EGFL7_uc004cie.3_Silent_p.D172D|EGFL7_uc004cif.3_Silent_p.D172D|EGFL7_uc004cih.3_Silent_p.D172D|MIR126_uc022bps.1_5'Flank	p.D172D	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	6	1427	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	172			EGF-like 2; calcium-binding (Potential).		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.516C>T	CCDS7002.1																																																																																				0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215	
ZNF280C	55609	broad.mit.edu	37	X	129370452	129370452	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chrX:129370452G>A	ENST00000370978.4	-	7	808	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	219	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTTTTGACAGCATAACTTGG	0.328																																						uc004evm.3																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(655-657)Ctg>Ttg		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.							131.0	113.0	119.0					X																	129370452		2203	4300	6503	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370452G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.655C>T	X.37:g.129370452G>A						ZNF280C_uc010nrf.2_Silent_p.L219L	p.L219L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			6	858	-			219			Ser-rich.		A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.655C>T	CCDS14622.1																																																																																				0.328	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
