#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
MUTYH	4595	broad.mit.edu	37	1	45797465	45797465	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:45797465T>A	ENST00000372098.3	-	12	1178	c.1045A>T	c.(1045-1047)Acc>Tcc	p.T349S	MUTYH_ENST00000372115.3_Missense_Mutation_p.T338S|MUTYH_ENST00000372104.1_Missense_Mutation_p.T324S|MUTYH_ENST00000456914.2_Missense_Mutation_p.T324S|MUTYH_ENST00000372110.3_Missense_Mutation_p.T339S|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.T335S|MUTYH_ENST00000528013.2_Missense_Mutation_p.T338S|MUTYH_ENST00000448481.1_Missense_Mutation_p.T335S|MUTYH_ENST00000450313.1_Missense_Mutation_p.T352S|MUTYH_ENST00000355498.2_Missense_Mutation_p.T324S|MUTYH_ENST00000354383.6_Missense_Mutation_p.T325S|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000531105.1_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	349					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACTCCCAGGGTCTGGTCCCAG	0.652			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0						c.(1045-1047)ACC>TCC	BER_DNA_glycosylases	mutY homolog isoform 1							19.0	22.0	21.0					1																	45797465		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797465T>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1045A>T	1.37:g.45797465T>A	ENSP00000361170:p.Thr349Ser					MUTYH_uc009vxn.2_Missense_Mutation_p.T174S|MUTYH_uc001cnf.2_Missense_Mutation_p.T324S|MUTYH_uc009vxo.2_Missense_Mutation_p.T324S|MUTYH_uc001cng.2_Missense_Mutation_p.T335S|MUTYH_uc001cnj.2_Missense_Mutation_p.T232S|MUTYH_uc001cni.2_Missense_Mutation_p.T324S|MUTYH_uc001cnh.2_Missense_Mutation_p.T325S|MUTYH_uc001cno.2_Missense_Mutation_p.T232S|MUTYH_uc001cnk.2_Missense_Mutation_p.T209S|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.T338S|MUTYH_uc009vxp.2_Missense_Mutation_p.T352S|MUTYH_uc001cnn.2_Missense_Mutation_p.T339S	p.T349S	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			12	1261	-	Acute lymphoblastic leukemia(166;0.155)		349					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1045A>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	T	1.460	-0.562700	0.03939	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971	T;T;T;T;T;T;T;T;T;T;T	0.20738	3.34;3.34;3.34;3.34;3.34;3.33;3.33;3.33;3.33;3.34;2.05	5.5	4.38	0.52667	.	1.097440	0.06599	N	0.753370	T	0.11110	0.0271	N	0.16266	0.395	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.39961	-0.9588	10	0.02654	T	1	-9.1023	5.3409	0.15982	0.1566:0.1079:0.0:0.7355	.	352;349;339;349;338;232;325	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	S	324;335;324;325;324;349;339;338;352;335;196;196	ENSP00000361176:T324S;ENSP00000409718:T335S;ENSP00000407590:T324S;ENSP00000346354:T325S;ENSP00000347685:T324S;ENSP00000361170:T349S;ENSP00000361182:T339S;ENSP00000361187:T338S;ENSP00000408176:T352S;ENSP00000361172:T335S;ENSP00000410263:T196S	ENSP00000346354:T325S	T	-	1	0	MUTYH	45570052	0.000000	0.05858	0.447000	0.26932	0.612000	0.37316	0.423000	0.21313	2.100000	0.63781	0.533000	0.62120	ACC		0.652	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
NBPF10	100132406	broad.mit.edu	37	1	145328401	145328406	+	In_Frame_Del	DEL	GAAGAC	GAAGAC	-	rs371101751		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:145328401_145328406delGAAGAC	ENST00000342960.5	+	33	4284_4289	c.4249_4254delGAAGAC	c.(4249-4254)gaagacdel	p.ED1419del	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	760						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAGGAAGAAGACGAAGACCAAG	0.466																																						uc001end.3																			0					0						c.(4474-4479)GAAGACdel		hypothetical protein LOC100132406																																				SO:0001651	inframe_deletion	100132406							g.chr1:145328401_145328406delGAAGAC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4249_4254delGAAGAC	1.37:g.145328407_145328412delGAAGAC	ENSP00000345684:p.Glu1419_Asp1420del					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_Intron	p.ED1494del	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	35	4509_4514	+	all_hematologic(923;0.032)		1419_1420					Q5RHC0|Q9NWN6	In_Frame_Del	DEL	ENST00000342960.5	37	c.4474_4479delGAAGAC	CCDS53355.1																																																																																				0.466	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
CTSK	1513	broad.mit.edu	37	1	150771721	150771721	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:150771721G>A	ENST00000271651.3	-	7	923	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	271					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGATTATCGCTATTGCAGC	0.433																																						uc001evp.1																			0				skin(1)	1						c.(811-813)AGC>AGT		cathepsin K preproprotein							165.0	148.0	154.0					1																	150771721		2203	4300	6503	SO:0001819	synonymous_variant	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150771721G>A	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.813C>T	1.37:g.150771721G>A						CTSK_uc001evq.1_Silent_p.S182S	p.S271S	NM_000396	NP_000387	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	937	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		271					Q6FHS6	Silent	SNP	ENST00000271651.3	37	c.813C>T	CCDS969.1																																																																																				0.433	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396	
FCRL1	115350	broad.mit.edu	37	1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:157772382A>C	ENST00000368176.3	-	4	459	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.V131G	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	131	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			0				skin(4)|ovary(3)	7						c.(391-393)GTC>GGC		Fc receptor-like 1 isoform 1 precursor							68.0	61.0	63.0					1																	157772382		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772382A>C	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.392T>G	1.37:g.157772382A>C	ENSP00000357158:p.Val131Gly					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V131G|FCRL1_uc001fri.2_Missense_Mutation_p.V131G|FCRL1_uc001frj.2_Intron	p.V131G	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	505	-	all_hematologic(112;0.0378)		131			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.392T>G	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436286	0.43224	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.13901	2.55;2.55;2.55	5.41	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586754	0.16416	N	0.215370	T	0.30665	0.0772	M	0.93375	3.41	0.47905	D	0.999544	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.71656	0.974;0.962;0.971	T	0.12477	-1.0546	10	0.66056	D	0.02	.	7.2524	0.26156	0.8242:0.0:0.1758:0.0	.	131;131;131	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	131	ENSP00000351039:V131G;ENSP00000357158:V131G;ENSP00000418130:V131G	ENSP00000351039:V131G	V	-	2	0	FCRL1	156039006	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	2.156000	0.42310	0.445000	0.26639	0.533000	0.62120	GTC		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	
HMCN1	83872	broad.mit.edu	37	1	186097315	186097315	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:186097315C>A	ENST00000271588.4	+	83	13025	c.12796C>A	c.(12796-12798)Cct>Act	p.P4266T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4266T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4266	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGAACTTCCTGGAGACGT	0.418																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(12796-12798)CCT>ACT		hemicentin 1 precursor							122.0	109.0	113.0					1																	186097315		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097315C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12796C>A	1.37:g.186097315C>A	ENSP00000271588:p.Pro4266Thr					HMCN1_uc001grs.1_5'UTR	p.P4266T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			83	13025	+			4266			Ig-like C2-type 42.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12796C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622510	0.66787	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.41065	1.01;1.01	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051742	0.85682	D	0.000000	T	0.69628	0.3132	M	0.85197	2.74	0.46149	D	0.998894	D	0.89917	1.0	D	0.91635	0.999	T	0.71735	-0.4503	10	0.44086	T	0.13	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	4266	Q96RW7	HMCN1_HUMAN	T	4266	ENSP00000271588:P4266T;ENSP00000356462:P4266T	ENSP00000271588:P4266T	P	+	1	0	HMCN1	184363938	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.726000	0.68515	2.502000	0.84385	0.585000	0.79938	CCT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CACNA1S	779	broad.mit.edu	37	1	201021762	201021762	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:201021762G>A	ENST00000362061.3	-	32	4102	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	CACNA1S_ENST00000367338.3_Silent_p.I1273I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1292					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACCAAGGCGATCTTCCCAA	0.557																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3874-3876)ATC>ATT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						229.0	195.0	206.0					1																	201021762		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201021762G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3876C>T	1.37:g.201021762G>A							p.I1292I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			32	4103	-			1292			Extracellular (Potential).|IV.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3876C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
IBA57	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:228362831G>A	ENST00000366711.3	+	3	690	c.688G>A	c.(688-690)Gag>Aag	p.E230K	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.E37K	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	230					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCGTTCCTGAGGGGGTCCG	0.627																																						uc001hsl.3																			0					0						c.(688-690)GAG>AAG		hypothetical protein LOC200205 precursor							46.0	51.0	49.0					1																	228362831		2203	4300	6503	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362831G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.688G>A	1.37:g.228362831G>A	ENSP00000355672:p.Glu230Lys					C1orf69_uc010pvw.1_Missense_Mutation_p.E37K	p.E230K	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	777	+		Prostate(94;0.0405)	230						Missense_Mutation	SNP	ENST00000366711.3	37	c.688G>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426631	0.96131	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.75154	-0.91;0.87	5.5	5.5	0.81552	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, N-terminal (1);	0.102951	0.64402	D	0.000004	D	0.89287	0.6672	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90702	0.4621	10	0.62326	D	0.03	-28.8069	19.3799	0.94529	0.0:0.0:1.0:0.0	.	230	Q5T440	CAF17_HUMAN	K	230;37	ENSP00000355672:E230K;ENSP00000437347:E37K	ENSP00000355672:E230K	E	+	1	0	IBA57	226429454	1.000000	0.71417	0.981000	0.43875	0.686000	0.39977	7.396000	0.79891	2.584000	0.87258	0.655000	0.94253	GAG		0.627	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867	
PCDH15	65217	broad.mit.edu	37	10	55591167	55591167	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr10:55591167T>C	ENST00000320301.6	-	30	4504	c.4110A>G	c.(4108-4110)ctA>ctG	p.L1370L	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Silent_p.L1377L|PCDH15_ENST00000437009.1_Silent_p.L1299L|PCDH15_ENST00000395438.1_Silent_p.L1370L|PCDH15_ENST00000395432.2_Silent_p.L1333L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1348L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.L1370L|PCDH15_ENST00000395445.1_Silent_p.L1377L|PCDH15_ENST00000409834.1_Silent_p.L981L|PCDH15_ENST00000361849.3_Silent_p.L1370L|PCDH15_ENST00000414778.1_Silent_p.L1375L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1370					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTATCCTAGACTTTCTC	0.483										HNSCC(58;0.16)																												uc001jju.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4108-4110)CTA>CTG		protocadherin 15 isoform CD1-4 precursor							279.0	237.0	251.0					10																	55591167		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591167T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4110A>G	10.37:g.55591167T>C		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.L1375L|PCDH15_uc010qhr.1_Silent_p.L1370L|PCDH15_uc010qhs.1_Silent_p.L1382L|PCDH15_uc010qht.1_Silent_p.L1377L|PCDH15_uc010qhu.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhy.1_Silent_p.L1375L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc010qib.1_Silent_p.L1348L	p.L1370L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			30	4505	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1370			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4110A>G	CCDS7248.1																																																																																				0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PLA2G16	11145	broad.mit.edu	37	11	63381479	63381479	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:63381479G>A	ENST00000323646.5	-	1	362	c.8C>T	c.(7-9)gCg>gTg	p.A3V	RP11-697H9.3_ENST00000542805.1_RNA|PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Missense_Mutation_p.A3V	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	3					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACAATGGGCGCACGCATCTT	0.617																																						uc001nxh.2																			0				ovary(1)	1						c.(7-9)GCG>GTG		HRAS-like suppressor 3							56.0	60.0	59.0					11																	63381479		2201	4298	6499	SO:0001583	missense	11145				lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	g.chr11:63381479G>A	X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.8C>T	11.37:g.63381479G>A	ENSP00000320337:p.Ala3Val					PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	p.A3V	NM_007069	NP_009000	P53816	PAG16_HUMAN			1	431	-			3					B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	ENST00000323646.5	37	c.8C>T	CCDS8047.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413424	0.25465	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.37752	1.18;1.18	3.52	1.64	0.23874	.	1.128850	0.06571	N	0.748546	T	0.22244	0.0536	N	0.16478	0.41	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.23511	-1.0186	10	0.36615	T	0.2	0.014	5.659	0.17658	0.2491:0.0:0.7509:0.0	.	3	P53816	PAG16_HUMAN	V	3	ENSP00000320337:A3V;ENSP00000389124:A3V	ENSP00000320337:A3V	A	-	2	0	PLA2G16	63138055	0.033000	0.19621	0.002000	0.10522	0.098000	0.18820	3.378000	0.52432	0.493000	0.27837	0.591000	0.81541	GCG		0.617	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203	
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	uc001pkm.2				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(2338-2343)AGTGAT>AGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_uc001pkl.1_In_Frame_Del_p.D788del	p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2405_2407	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	788					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
ANO6	196527	broad.mit.edu	37	12	45823037	45823037	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:45823037G>A	ENST00000320560.8	+	20	2878	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V	ANO6_ENST00000435642.1_Intron|ANO6_ENST00000423947.3_Silent_p.V913V|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_Silent_p.V874V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	892					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATGGGGGTGATAGCTGAGC	0.373																																						uc001roo.2																			0				ovary(1)|kidney(1)	2						c.(2674-2676)GTG>GTA		anoctamin 6 isoform a							52.0	50.0	51.0					12																	45823037		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45823037G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2676G>A	12.37:g.45823037G>A						ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.V913V|ANO6_uc010slg.1_Silent_p.V874V	p.V892V	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			20	3011	+			892			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2676G>A	CCDS31782.1																																																																																				0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642																																						uc009zpe.2																			0				ovary(2)|lung(1)|skin(1)	4						c.(2314-2316)TGC>TAC		signal transducer and activator of transcription							50.0	47.0	48.0					12																	57490672		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490672C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2315G>A	12.37:g.57490672C>T	ENSP00000300134:p.Cys772Tyr					STAT6_uc009zpf.2_Missense_Mutation_p.C772Y|STAT6_uc001sna.2_Missense_Mutation_p.C772Y|STAT6_uc010srb.1_Missense_Mutation_p.C662Y|STAT6_uc010src.1_Missense_Mutation_p.C662Y|STAT6_uc010srd.1_Missense_Mutation_p.C662Y|STAT6_uc009zpg.2_Missense_Mutation_p.C821Y	p.C772Y	NM_003153	NP_003144	P42226	STAT6_HUMAN			21	2566	-			772					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2315G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949601	0.53186	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.92397	-2.79;-3.03;-2.79;-2.79;-3.03;-2.79	4.87	4.87	0.63330	.	0.475564	0.20115	N	0.098921	D	0.87087	0.6090	N	0.24115	0.695	0.34682	D	0.724782	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	D	0.91590	0.5286	10	0.72032	D	0.01	-8.3535	13.3934	0.60836	0.0:1.0:0.0:0.0	.	772;772	A8K4S9;P42226	.;STAT6_HUMAN	Y	772;662;662;772;772;662;772;662	ENSP00000300134:C772Y;ENSP00000445409:C662Y;ENSP00000438451:C772Y;ENSP00000451742:C772Y;ENSP00000444530:C662Y;ENSP00000401486:C772Y	ENSP00000300134:C772Y	C	-	2	0	STAT6	55776939	0.911000	0.30947	1.000000	0.80357	0.965000	0.64279	1.974000	0.40559	2.537000	0.85549	0.561000	0.74099	TGC		0.642	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153	
OSBPL8	114882	broad.mit.edu	37	12	76791554	76791554	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:76791554T>C	ENST00000261183.3	-	8	1071	c.592A>G	c.(592-594)Atc>Gtc	p.I198V	OSBPL8_ENST00000393250.4_Missense_Mutation_p.I156V|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I156V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	198	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CGTTCAATGATTTCACAGGCA	0.408																																						uc001sye.1																			0				ovary(1)	1						c.(592-594)ATC>GTC		oxysterol-binding protein-like protein 8 isoform							127.0	109.0	115.0					12																	76791554		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76791554T>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.592A>G	12.37:g.76791554T>C	ENSP00000261183:p.Ile198Val					OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	p.I198V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			8	1072	-			198			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.592A>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728279	0.30593	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.74632	-0.86;3.3;-0.86;3.3;-0.86	5.64	4.54	0.55810	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.248699	0.41938	D	0.000785	T	0.51873	0.1700	N	0.11560	0.145	0.48975	D	0.999738	B;B	0.02656	0.0;0.0	B;B	0.13407	0.005;0.009	T	0.48269	-0.9050	10	0.09084	T	0.74	-9.2191	11.7259	0.51710	0.0:0.0:0.2391:0.7609	.	173;198	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	V	156;198;183;156;198;198;173	ENSP00000376939:I156V;ENSP00000261183:I198V;ENSP00000376940:I156V;ENSP00000450238:I198V;ENSP00000447893:I173V	ENSP00000261183:I198V	I	-	1	0	OSBPL8	75315685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.962000	0.70364	2.152000	0.67230	0.528000	0.53228	ATC		0.408	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
EP400	57634	broad.mit.edu	37	12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:132551418G>A	ENST00000333577.4	+	50	8870	c.8761G>A	c.(8761-8763)Gtc>Atc	p.V2921I	EP400_ENST00000332482.4_Missense_Mutation_p.V2848I|EP400_ENST00000389562.2_Missense_Mutation_p.V2884I|EP400_ENST00000389561.2_Missense_Mutation_p.V2885I|EP400_ENST00000330386.6_Missense_Mutation_p.V2804I			Q96L91	EP400_HUMAN	E1A binding protein p400	2921					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V2884I(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGGTGTCCGTCCCGGCAGC	0.682																																						uc001ujn.2																			1	Substitution - Missense(1)	p.P2885P(1)	large_intestine(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8653-8655)GTC>ATC		E1A binding protein p400							36.0	38.0	37.0					12																	132551418		2203	4299	6502	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551418G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8761G>A	12.37:g.132551418G>A	ENSP00000333602:p.Val2921Ile					EP400_uc001ujl.2_Missense_Mutation_p.V2884I|EP400_uc001ujm.2_Missense_Mutation_p.V2804I|EP400_uc001ujp.2_Missense_Mutation_p.V95I	p.V2885I	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8688	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2921					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.8653G>A		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633162	0.47049	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92199	-2.99;-2.99;-2.92;-2.97;-2.96	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.32530	0.975	0.39049	D	0.960288	D;D;D;D	0.76494	0.987;0.999;0.999;0.999	P;D;D;D	0.78314	0.897;0.991;0.991;0.991	D	0.92891	0.6331	10	0.33141	T	0.24	.	16.1317	0.81445	0.0:0.0:1.0:0.0	.	2921;2885;2804;2884	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	I	2921;2885;2884;2848;2804;2885	ENSP00000333602:V2921I;ENSP00000374212:V2885I;ENSP00000374213:V2884I;ENSP00000331737:V2848I;ENSP00000330620:V2804I	ENSP00000330620:V2804I	V	+	1	0	EP400	131117371	1.000000	0.71417	0.656000	0.29637	0.119000	0.20118	6.023000	0.70848	2.244000	0.73946	0.561000	0.74099	GTC		0.682	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
LMO7	4008	broad.mit.edu	37	13	76287343	76287343	+	Missense_Mutation	SNP	C	C	A	rs75385907		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr13:76287343C>A	ENST00000341547.4	+	3	1511	c.251C>A	c.(250-252)aCa>aAa	p.T84K	LMO7_ENST00000357063.3_Missense_Mutation_p.T84K|LMO7_ENST00000377534.3_Missense_Mutation_p.T84K|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	84	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTTTGAAACAAAAGATTTT	0.318																																						uc010thv.1																			0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(250-252)ACA>AAA		LIM domain only 7 isoform 1							49.0	53.0	51.0					13																	76287343		2202	4300	6502	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76287343C>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.251C>A	13.37:g.76287343C>A	ENSP00000342112:p.Thr84Lys					LMO7_uc001vjt.1_Missense_Mutation_p.T32K	p.T84K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	3	1511	+		Breast(118;0.0992)	84			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.251C>A	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704618	0.68615	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.59	3.73	0.42828	.	1.313350	0.05340	N	0.529904	D	0.89497	0.6732	N	0.11870	0.19	0.28065	N	0.932812	P;P	0.44627	0.839;0.705	B;B	0.41510	0.322;0.359	T	0.83259	-0.0049	10	0.62326	D	0.03	.	9.5196	0.39126	0.159:0.6868:0.1542:0.0	.	84;32	Q8WWI1-3;F8J2B5	.;.	K	84;84;84;32	ENSP00000342112:T84K;ENSP00000349571:T84K;ENSP00000366757:T84K;ENSP00000366719:T32K	ENSP00000342112:T84K	T	+	2	0	LMO7	75185344	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.540000	0.36115	1.458000	0.47871	0.561000	0.74099	ACA		0.318	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
OR11G2	390439	broad.mit.edu	37	14	20666093	20666093	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:20666093A>G	ENST00000357366.3	+	1	599	c.599A>G	c.(598-600)aAc>aGc	p.N200S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTATCGTCAACATCTCCCAA	0.448																																						uc010tlb.1																			0				ovary(1)|skin(1)	2						c.(598-600)AAC>AGC		olfactory receptor, family 11, subfamily G,							118.0	101.0	107.0					14																	20666093		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666093A>G		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.599A>G	14.37:g.20666093A>G	ENSP00000349930:p.Asn200Ser						p.N200S	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	599	+	all_cancers(95;0.00108)		200			Helical; Name=4; (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.599A>G	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	a	4.982	0.182422	0.09495	.	.	ENSG00000196832	ENST00000357366	T	0.00169	8.63	4.93	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	1.150220	0.06639	N	0.760732	T	0.00109	0.0003	N	0.03224	-0.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	10	0.49607	T	0.09	.	10.3921	0.44179	0.1469:0.0:0.0:0.853	.	200	Q8NGC1	O11G2_HUMAN	S	200	ENSP00000349930:N200S	ENSP00000349930:N200S	N	+	2	0	OR11G2	19735933	0.000000	0.05858	0.141000	0.22245	0.063000	0.16089	0.215000	0.17562	0.905000	0.36596	-0.277000	0.10078	AAC		0.448	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
AKAP5	9495	broad.mit.edu	37	14	64936331	64936331	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:64936331T>C	ENST00000394718.4	+	2	1597	c.1219T>C	c.(1219-1221)Tca>Cca	p.S407P	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.S407P|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	407				S -> Y (in Ref. 6; no nucleotide entry). {ECO:0000305}.	energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TATTCAGTTGTCAATAGAACA	0.348																																						uc001xhd.3																			0					0						c.(1219-1221)TCA>CCA		A-kinase anchor protein 5							86.0	94.0	91.0					14																	64936331		2203	4298	6501	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936331T>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1219T>C	14.37:g.64936331T>C	ENSP00000378207:p.Ser407Pro					ZBTB25_uc001xhc.2_Intron	p.S407P	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1597	+			407	S -> Y (in Ref. 3).				A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1219T>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821788	0.71028	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.49432	0.78;0.78	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000073	T	0.57301	0.2044	L	0.29908	0.895	0.34309	D	0.685288	D	0.89917	1.0	D	0.87578	0.998	T	0.69803	-0.5046	10	0.87932	D	0	-21.5174	14.1604	0.65443	0.0:0.0:0.0:1.0	.	407	P24588	AKAP5_HUMAN	P	407	ENSP00000378207:S407P;ENSP00000315615:S407P	ENSP00000315615:S407P	S	+	1	0	AKAP5	64006084	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.755000	0.62198	2.217000	0.71921	0.482000	0.46254	TCA		0.348	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
HEATR4	399671	broad.mit.edu	37	14	73989140	73989140	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:73989140C>A	ENST00000553558.1	-	3	1038	c.717G>T	c.(715-717)caG>caT	p.Q239H	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.Q192H|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.Q239H	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	239										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTCGTACTGCTGGCGCAGGA	0.582																																						uc010tub.1																			0				ovary(1)	1						c.(715-717)CAG>CAT		HEAT repeat containing 4							72.0	70.0	71.0					14																	73989140		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73989140C>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.717G>T	14.37:g.73989140C>A	ENSP00000450444:p.Gln239His					HEATR4_uc010tua.1_Missense_Mutation_p.Q192H	p.Q239H	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	1039	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.717G>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007337	0.19199	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.45668	0.89	5.93	1.48	0.22813	.	0.415295	0.23487	N	0.047658	T	0.20333	0.0489	N	0.14661	0.345	0.30415	N	0.778705	B	0.15141	0.012	B	0.11329	0.006	T	0.09100	-1.0690	10	0.28530	T	0.3	-7.2805	4.517	0.11939	0.2812:0.514:0.1246:0.0801	.	239	Q86WZ0	HEAT4_HUMAN	H	239;192	ENSP00000450444:Q239H	ENSP00000335447:Q192H	Q	-	3	2	HEATR4	73058893	0.962000	0.33011	0.996000	0.52242	0.583000	0.36354	-0.245000	0.08890	0.368000	0.24481	0.561000	0.74099	CAG		0.582	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
LTBP2	4053	broad.mit.edu	37	14	74974771	74974771	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:74974771G>A	ENST00000261978.4	-	25	4066	c.3680C>T	c.(3679-3681)cCg>cTg	p.P1227L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1227L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1227	Cys-rich.|EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCACACACGGGTCTGTGGT	0.582																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(3679-3681)CCG>CTG		latent transforming growth factor beta binding							64.0	54.0	57.0					14																	74974771		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74974771G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3680C>T	14.37:g.74974771G>A	ENSP00000261978:p.Pro1227Leu						p.P1227L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	25	4067	-			1227			EGF-like 13; calcium-binding (Potential).|Cys-rich.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3680C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	1.976	-0.435403	0.04669	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91894	-2.93;-2.4	5.41	-5.99	0.02213	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	1.131700	0.07041	N	0.830049	T	0.78830	0.4345	L	0.41824	1.3	0.25350	N	0.988879	P	0.47545	0.897	B	0.35073	0.195	T	0.74777	-0.3550	10	0.07813	T	0.8	.	0.4198	0.00454	0.2873:0.1763:0.2951:0.2413	.	1227	Q14767	LTBP2_HUMAN	L	1227	ENSP00000261978:P1227L;ENSP00000451477:P1227L	ENSP00000261978:P1227L	P	-	2	0	LTBP2	74044524	0.041000	0.20044	0.048000	0.18961	0.036000	0.12997	-0.367000	0.07553	-1.501000	0.01817	-1.243000	0.01532	CCG		0.582	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
RYR3	6263	broad.mit.edu	37	15	33999198	33999198	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:33999198A>G	ENST00000389232.4	+	43	6632	c.6562A>G	c.(6562-6564)Aac>Gac	p.N2188D	RYR3_ENST00000415757.3_Missense_Mutation_p.N2188D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2188	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTCGGCTGGAACCCCATTGA	0.517																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6562-6564)AAC>GAC		ryanodine receptor 3							93.0	105.0	101.0					15																	33999198		2159	4277	6436	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33999198A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6562A>G	15.37:g.33999198A>G	ENSP00000373884:p.Asn2188Asp					RYR3_uc010bar.2_Missense_Mutation_p.N2188D	p.N2188D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	43	6632	+		all_lung(180;7.18e-09)	2188			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6562A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.503209	0.64298	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95001	-3.58;-3.58	5.35	5.35	0.76521	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	N	0.12182	0.205	0.58432	D	0.999999	P;D	0.89917	0.607;1.0	B;D	0.91635	0.405;0.999	D	0.90662	0.4591	10	0.13108	T	0.6	.	15.1644	0.72811	1.0:0.0:0.0:0.0	.	2188;2188	Q15413-2;Q15413	.;RYR3_HUMAN	D	2188	ENSP00000373884:N2188D;ENSP00000399610:N2188D	ENSP00000354735:N2188D	N	+	1	0	RYR3	31786490	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.788000	0.91834	2.243000	0.73865	0.482000	0.46254	AAC		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
ATP8B4	79895	broad.mit.edu	37	15	50190419	50190419	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:50190419A>T	ENST00000284509.6	-	22	2460	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N773K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	773						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTAGGAGATCATTCTTGACAT	0.398																																						uc001zxu.2																			0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2317-2319)AAT>AAA		ATPase class I type 8B member 4							113.0	102.0	106.0					15																	50190419		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190419A>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2319T>A	15.37:g.50190419A>T	ENSP00000284509:p.Asn773Lys					ATP8B4_uc010ber.2_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.1_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	p.N773K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2461	-		all_lung(180;0.00183)	773			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2319T>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	6.312	0.425685	0.11987	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.92	-6.68	0.01778	HAD-like domain (1);	0.672387	0.15355	N	0.266707	T	0.34832	0.0911	N	0.02665	-0.54	0.22737	N	0.998798	B	0.02656	0.0	B	0.06405	0.002	T	0.52185	-0.8609	10	0.02654	T	1	.	0.4249	0.00462	0.2107:0.2114:0.268:0.3099	.	773	Q8TF62	AT8B4_HUMAN	K	773	ENSP00000284509:N773K	ENSP00000284509:N773K	N	-	3	2	ATP8B4	47977711	0.000000	0.05858	0.816000	0.32577	0.851000	0.48451	-1.323000	0.02692	-1.123000	0.02940	0.533000	0.62120	AAT		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
REC114	283677	broad.mit.edu	37	15	73832877	73832877	+	Missense_Mutation	SNP	G	G	A	rs182542888	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:73832877G>A	ENST00000331090.6	+	3	329	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C15orf60_ENST00000560581.1_Intron	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		101					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGTAAGACGCGTGGATTGTCT	0.383																																						uc002avq.2																			0				pancreas(1)	1						c.(301-303)GTG>ATG		hypothetical protein LOC283677							327.0	306.0	312.0					15																	73832877		1903	4103	6006	SO:0001583	missense	283677							g.chr15:73832877G>A																												ENST00000331090.6:c.301G>A	15.37:g.73832877G>A	ENSP00000328423:p.Val101Met					C15orf60_uc010bjb.2_Intron	p.V101M	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			3	329	+			101						Missense_Mutation	SNP	ENST00000331090.6	37	c.301G>A	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103613	0.06967	.	.	ENSG00000183324	ENST00000331090	T	0.41065	1.01	4.97	-6.78	0.01721	.	0.725050	0.13902	N	0.354836	T	0.15262	0.0368	N	0.01410	-0.885	0.43021	D	0.994571	B	0.10296	0.003	B	0.09377	0.004	T	0.12142	-1.0559	10	0.35671	T	0.21	5.1413	17.276	0.87115	0.2846:0.0:0.7154:0.0	.	101	Q7Z4M0	CO060_HUMAN	M	101	ENSP00000328423:V101M	ENSP00000328423:V101M	V	+	1	0	C15orf60	71619930	0.000000	0.05858	0.740000	0.30986	0.493000	0.33554	-1.076000	0.03420	-1.580000	0.01644	-2.010000	0.00438	GTG		0.383	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		
CEMIP	57214	broad.mit.edu	37	15	81213426	81213426	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:81213426C>T	ENST00000394685.3	+	16	2476	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A686V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A686V			Q8WUJ3	CEMIP_HUMAN		686					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.A686V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAACTGTGCCGCTGCAGGA	0.547																																						uc002bfw.1																			1	Substitution - Missense(1)		kidney(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2056-2058)GCC>GTC		KIAA1199 precursor							114.0	84.0	95.0					15																	81213426		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81213426C>T																												ENST00000394685.3:c.2057C>T	15.37:g.81213426C>T	ENSP00000378177:p.Ala686Val					KIAA1199_uc010unn.1_Missense_Mutation_p.A686V	p.A686V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			15	2317	+			686					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2057C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115668	0.37339	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.54071	0.59;0.59;0.59	4.45	4.45	0.53987	Pectin lyase fold/virulence factor (1);	0.201603	0.41294	D	0.000909	T	0.43366	0.1244	L	0.31207	0.915	0.44789	D	0.997796	P	0.40050	0.7	B	0.40199	0.322	T	0.27640	-1.0068	10	0.20046	T	0.44	-10.3787	17.6395	0.88131	0.0:1.0:0.0:0.0	.	686	Q8WUJ3	K1199_HUMAN	V	686	ENSP00000220244:A686V;ENSP00000378177:A686V;ENSP00000348583:A686V	ENSP00000220244:A686V	A	+	2	0	KIAA1199	79000481	1.000000	0.71417	0.016000	0.15963	0.005000	0.04900	7.186000	0.77722	2.450000	0.82876	0.655000	0.94253	GCC		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
RHBDL1	9028	broad.mit.edu	37	16	727863	727863	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:727863G>A	ENST00000219551.2	+	7	1155	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'Flank|RHBDL1_ENST00000352681.3_Silent_p.A311A|STUB1_ENST00000219548.4_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	376					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTTCATGGCGCACCTGGCAG	0.736																																						uc002cis.1																			0					0						c.(1126-1128)GCG>GCA		rhomboid protease 1							13.0	15.0	15.0					16																	727863		2166	4279	6445	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727863G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.1128G>A	16.37:g.727863G>A						RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	p.A376A	NM_003961	NP_003952	O75783	RHBL1_HUMAN			7	1155	+		Hepatocellular(780;0.0218)	376			Helical; (Potential).		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.1128G>A	CCDS10418.1																																																																																				0.736	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961	
KIAA0430	9665	broad.mit.edu	37	16	15690712	15690712	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:15690712C>T	ENST00000396368.3	-	27	5273	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	KIAA0430_ENST00000551742.1_Silent_p.S1689S|KIAA0430_ENST00000344181.3_Silent_p.S1377S|KIAA0430_ENST00000548025.1_Silent_p.S1686S|KIAA0430_ENST00000540441.2_Silent_p.S1524S|KIAA0430_ENST00000602337.1_Silent_p.S1686S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1689	Poly-Ser.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGATGCAGGACGAGCTGGAGT	0.507																																						uc002ddr.2																			0					0						c.(5065-5067)TCG>TCA		limkain b1							51.0	53.0	53.0					16																	15690712		2050	4221	6271	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690712C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5067G>A	16.37:g.15690712C>T						KIAA0430_uc002ddq.2_Silent_p.S1523S|KIAA0430_uc010uzv.1_Silent_p.S1685S|KIAA0430_uc010uzw.1_Silent_p.S1688S	p.S1689S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			27	5260	-			1688			Poly-Ser.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.5067G>A	CCDS10562.2																																																																																				0.507	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
ITGAX	3687	broad.mit.edu	37	16	31388543	31388543	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:31388543C>A	ENST00000268296.4	+	23	2867	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	ITGAX_ENST00000562522.1_Missense_Mutation_p.L916M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	916					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCTTCCAGCTGGAGCTCCC	0.537																																						uc002ebu.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2746-2748)CTG>ATG		integrin alpha X precursor							110.0	113.0	112.0					16																	31388543		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388543C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2746C>A	16.37:g.31388543C>A	ENSP00000268296:p.Leu916Met					ITGAX_uc002ebt.2_Missense_Mutation_p.L916M	p.L916M	NM_000887	NP_000878	P20702	ITAX_HUMAN			23	2813	+			916			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2746C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990197	0.18966	.	.	ENSG00000140678	ENST00000268296	T	0.55930	0.49	4.37	-3.4	0.04853	Integrin alpha-2 (1);	.	.	.	.	T	0.64483	0.2602	M	0.81112	2.525	0.09310	N	0.999997	D;P	0.89917	1.0;0.842	D;P	0.87578	0.998;0.761	T	0.55464	-0.8137	9	0.59425	D	0.04	.	2.0026	0.03471	0.5045:0.2012:0.1243:0.17	.	916;101	P20702;Q8TES5	ITAX_HUMAN;.	M	916	ENSP00000268296:L916M	ENSP00000268296:L916M	L	+	1	2	ITGAX	31296044	0.005000	0.15991	0.340000	0.25575	0.057000	0.15508	-0.301000	0.08232	-0.713000	0.04981	-0.810000	0.03169	CTG		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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		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		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM035576	TP53	M		c.(700-702)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	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.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	p.Y234C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	broad.mit.edu	37	17	29667528	29667528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:29667528delG	ENST00000358273.4	+	47	7310	c.6927delG	c.(6925-6927)tcgfs	p.S2309fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					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.?(3)|p.S2309S(1)|p.P2310fs*11(1)	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)		GCCAGGACTCGCCTCTGCACA	0.443			"""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.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)|Insertion - Frameshift(1)		soft_tissue(7)|autonomic_ganglia(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(6925-6927)TCGfs		neurofibromin isoform 1							114.0	107.0	110.0					17																	29667528		2203	4300	6503	SO:0001589	frameshift_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.chr17:29667528delG		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.6927delG	17.37:g.29667528delG	ENSP00000351015:p.Ser2309fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.2_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.S2309fs	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)	47	7260	+		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)	2309					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6927delG	CCDS42292.1																																																																																				0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRT31	3881	broad.mit.edu	37	17	39551111	39551111	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:39551111G>A	ENST00000251645.2	-	6	1138	c.1086C>T	c.(1084-1086)agC>agT	p.S362S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGTCCTCGCTCTCCAGCA	0.532																																						uc002hwn.2																			0					0						c.(1084-1086)AGC>AGT		keratin 31							121.0	116.0	118.0					17																	39551111		2203	4300	6503	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551111G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1086C>T	17.37:g.39551111G>A						KRT31_uc010cxn.2_Silent_p.S362S	p.S362S	NM_002277	NP_002268	Q15323	K1H1_HUMAN			6	1139	-		Breast(137;0.000496)	362			Coil 2.|Rod.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.1086C>T	CCDS11391.1																																																																																				0.532	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
MMD	23531	broad.mit.edu	37	17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T	rs556969177		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:53471726C>T	ENST00000262065.3	-	7	982	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	229					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17152	0.001		0.0	False		,,,				2504	0.0					uc002iui.2																			0					0						c.(685-687)CGA>CAA		monocyte to macrophage							127.0	127.0	127.0					17																	53471726		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471726C>T	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.686G>A	17.37:g.53471726C>T	ENSP00000262065:p.Arg229Gln						p.R229Q	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			7	971	-			229			Lumenal (Potential).		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.686G>A	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595699	0.28445	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	3.97	0.46021	.	0.579993	0.15725	N	0.247684	T	0.39627	0.1085	N	0.21448	0.665	0.38726	D	0.95355	B	0.06786	0.001	B	0.01281	0.0	T	0.32903	-0.9889	9	0.36615	T	0.2	-12.6603	6.7007	0.23223	0.1444:0.7106:0.0:0.145	.	229	Q15546	PAQRB_HUMAN	Q	229	.	ENSP00000262065:R229Q	R	-	2	0	MMD	50826725	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.022000	0.49659	1.570000	0.49709	0.643000	0.83706	CGA		0.463	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1		
KCNH6	81033	broad.mit.edu	37	17	61611547	61611547	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:61611547A>G	ENST00000583023.1	+	5	987	c.976A>G	c.(976-978)Acc>Gcc	p.T326A	KCNH6_ENST00000314672.5_Missense_Mutation_p.T326A|KCNH6_ENST00000580652.1_Missense_Mutation_p.T326A|KCNH6_ENST00000581784.1_Missense_Mutation_p.T326A|KCNH6_ENST00000456941.2_Missense_Mutation_p.T326A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	326					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTATGTCAACACCAATGATGA	0.567																																						uc002jay.2																			0				skin(1)	1						c.(976-978)ACC>GCC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						186.0	145.0	159.0					17																	61611547		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611547A>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.976A>G	17.37:g.61611547A>G	ENSP00000463533:p.Thr326Ala					KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.1_Missense_Mutation_p.T203A|KCNH6_uc010wpm.1_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	p.T326A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1056	+			326			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.976A>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062911	0.19987	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94046	-3.34;-3.34	4.14	-3.8	0.04307	Ion transport (1);	0.554792	0.18197	N	0.148622	T	0.76744	0.4030	N	0.11284	0.12	0.24767	N	0.99289	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.18561	0.021;0.007;0.022;0.004;0.002	T	0.69068	-0.5243	10	0.06757	T	0.87	.	1.4045	0.02278	0.5012:0.1102:0.1507:0.2379	.	203;326;326;326;326	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	A	326	ENSP00000318212:T326A;ENSP00000396900:T326A	ENSP00000318212:T326A	T	+	1	0	KCNH6	58965279	0.925000	0.31364	0.265000	0.24526	0.672000	0.39443	0.194000	0.17135	-0.505000	0.06568	0.254000	0.18369	ACC		0.567	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
DNMT1	1786	broad.mit.edu	37	19	10288042	10288042	+	Splice_Site	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:10288042A>G	ENST00000340748.4	-	5	682	c.447T>C	c.(445-447)ccT>ccC	p.P149P	DNMT1_ENST00000540357.1_Splice_Site_p.P149P|DNMT1_ENST00000359526.4_Splice_Site_p.A165A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	149	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTGAAGGTTCAGCTGTTTAAA	0.398																																						uc002mng.2																			0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(445-447)CCT>CCC		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						128.0	113.0	118.0					19																	10288042		2203	4300	6503	SO:0001630	splice_region_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10288042A>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.446-1T>C	19.37:g.10288042A>G						DNMT1_uc010xlc.1_Silent_p.A165A|DNMT1_uc002mnh.2_Silent_p.A44A|DNMT1_uc010xld.1_Silent_p.P149P|DNMT1_uc010dxb.1_RNA	p.P149P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		5	627	-			149			Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.447T>C	CCDS12228.1																																																																																				0.398	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	Silent
PLEKHG2	64857	broad.mit.edu	37	19	39915859	39915859	+	Silent	SNP	T	T	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:39915859T>G	ENST00000409794.3	+	19	4936	c.4086T>G	c.(4084-4086)gcT>gcG	p.A1362A	PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Silent_p.A1333A|PLEKHG2_ENST00000458508.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1362					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCTGCTCTCTTGGCCT	0.652																																						uc010xuz.1																			0				skin(2)|pancreas(1)|breast(1)	4						c.(4084-4086)GCT>GCG		common-site lymphoma/leukemia guanine nucleotide							18.0	21.0	20.0					19																	39915859		2183	4251	6434	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915859T>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.4086T>G	19.37:g.39915859T>G						PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A1140A	p.A1362A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	4411	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1362					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.4086T>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	T	4.603	0.112067	0.08831	.	.	ENSG00000090924	ENST00000205135	.	.	.	5.23	-2.77	0.05877	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44003	-0.9356	4	.	.	.	.	6.65	0.22957	0.1682:0.5655:0.0:0.2663	.	.	.	.	R	1230	.	.	L	+	2	0	PLEKHG2	44607699	0.711000	0.27906	0.829000	0.32907	0.305000	0.27757	-0.699000	0.05087	-0.521000	0.06426	-0.899000	0.02877	CTC		0.652	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
NLRP13	126204	broad.mit.edu	37	19	56423467	56423467	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:56423467G>A	ENST00000342929.3	-	5	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	NLRP13_ENST00000588751.1_Silent_p.H572H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	572							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGCAAGACGTGTTGCAGTA	0.423																																						uc010ygg.1																			0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1714-1716)CAC>CAT		NACHT, leucine rich repeat and PYD containing							122.0	129.0	127.0					19																	56423467		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423467G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1716C>T	19.37:g.56423467G>A							p.H572H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1741	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	572					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1716C>T	CCDS33119.1																																																																																				0.423	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
TMEM18	129787	broad.mit.edu	37	2	669581	669581	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:669581C>T	ENST00000281017.3	-	5	515	c.422G>A	c.(421-423)tGa>tAa	p.*141*	TMEM18_ENST00000405941.3_Silent_p.*144*|TMEM18_ENST00000355654.2_Silent_p.*128*	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	0					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TGCTGCCCCTCAGTCttcttt	0.512																																						uc002qwl.2																			0				ovary(1)	1						c.(421-423)TGA>TAA		transmembrane protein 18							161.0	145.0	150.0					2																	669581		2203	4300	6503	SO:0001819	synonymous_variant	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:669581C>T	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.422G>A	2.37:g.669581C>T						TMEM18_uc002qwk.2_RNA	p.*141*	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	5	516	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	141					D6W4X9|Q8N5H2|Q9NTH3	Silent	SNP	ENST00000281017.3	37	c.422G>A	CCDS33141.1																																																																																				0.512	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834	
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:11750922G>A	ENST00000381486.2	+	18	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_ENST00000396123.1_5'Flank|GREB1_ENST00000234142.5_Silent_p.S925S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	925						integral component of membrane (GO:0016021)		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2773-2775)TCG>TCA		growth regulation by estrogen in breast cancer 1							42.0	46.0	45.0					2																	11750922		2069	4221	6290	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11750922G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2775G>A	2.37:g.11750922G>A						GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	p.S925S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	3075	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		925					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2775G>A	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
APOB	338	broad.mit.edu	37	2	21225763	21225763	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:21225763T>C	ENST00000233242.1	-	29	12658	c.12531A>G	c.(12529-12531)cgA>cgG	p.R4177R	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4177					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAGTAACTCGTACCAAGC	0.463																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12529-12531)CGA>CGG		apolipoprotein B precursor	Atorvastatin(DB01076)						71.0	68.0	69.0					2																	21225763		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225763T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12531A>G	2.37:g.21225763T>C							p.R4177R	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12659	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4177					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12531A>G	CCDS1703.1																																																																																				0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
MZT2A	653784	broad.mit.edu	37	2	132241729	132241729	+	Missense_Mutation	SNP	C	C	T	rs368959769		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:132241729C>T	ENST00000309451.6	-	3	427	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	128						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						CTGGATCCCTCGTGGTTGCTG	0.642																																						uc002tsw.3																			0					0						c.(382-384)GAG>AAG		hypothetical protein LOC653784		C	LYS/GLU	1,4405		0,1,2202	52.0	64.0	60.0		382	2.2	0.0	2		60	0,8600		0,0,4300	no	missense	MZT2A	NM_001085365.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	128/159	132241729	1,13005	2203	4300	6503	SO:0001583	missense	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132241729C>T	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"""	613449	"""family with sequence similarity 128, member A"""	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.382G>A	2.37:g.132241729C>T	ENSP00000311500:p.Glu128Lys					FAM128A_uc002tsv.3_RNA	p.E128K	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	497	-			128					Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	c.382G>A	CCDS42758.1	.	.	.	.	.	.	.	.	.	.	c	9.280	1.047836	0.19827	2.27E-4	0.0	ENSG00000173272	ENST00000309451	T	0.55760	0.5	2.24	2.24	0.28232	.	0.108661	0.64402	D	0.000009	T	0.43523	0.1251	L	0.58101	1.795	0.36960	D	0.893311	B	0.29671	0.254	B	0.15484	0.013	T	0.54886	-0.8226	10	0.54805	T	0.06	-8.3934	10.1507	0.42791	0.0:1.0:0.0:0.0	.	128	Q6P582	MZT2A_HUMAN	K	128	ENSP00000311500:E128K	ENSP00000311500:E128K	E	-	1	0	MZT2A	131958199	0.994000	0.37717	0.046000	0.18839	0.008000	0.06430	3.737000	0.55060	1.243000	0.43853	0.194000	0.17425	GAG		0.642	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2		
FMNL2	114793	broad.mit.edu	37	2	153399316	153399316	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:153399316C>T	ENST00000288670.9	+	3	632	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	89	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTATCTGGATCCAGCTGTAAC	0.433																																						uc002tye.2																			0				central_nervous_system(2)|ovary(1)	3						c.(265-267)CCA>TCA		formin-like 2							144.0	135.0	138.0					2																	153399316		1915	4102	6017	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153399316C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.265C>T	2.37:g.153399316C>T	ENSP00000288670:p.Pro89Ser						p.P89S	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			3	632	+			89			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.265C>T	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098182	0.94197	.	.	ENSG00000157827	ENST00000288670	D	0.92199	-2.99	6.02	6.02	0.97574	.	0.099000	0.64402	D	0.000001	D	0.95430	0.8516	M	0.62209	1.925	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.94163	0.7416	10	0.41790	T	0.15	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	89	Q96PY5-3	.	S	89	ENSP00000288670:P89S	ENSP00000288670:P89S	P	+	1	0	FMNL2	153107562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.137000	0.77295	2.865000	0.98341	0.655000	0.94253	CCA		0.433	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
ACVR1C	130399	broad.mit.edu	37	2	158485147	158485147	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:158485147C>T	ENST00000243349.8	-	1	370	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ACVR1C_ENST00000348328.5_Missense_Mutation_p.A4T|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A4T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAGCAGAGCGCCCGGGTCATC	0.751																																						uc002tzk.3																			0				lung(3)|ovary(2)|skin(2)	7						c.(10-12)GCG>ACG		activin A receptor, type IC isoform 1							4.0	5.0	5.0					2																	158485147		1911	3852	5763	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158485147C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.10G>A	2.37:g.158485147C>T	ENSP00000243349:p.Ala4Thr					ACVR1C_uc002tzl.3_Missense_Mutation_p.A4T|ACVR1C_uc010fof.2_Missense_Mutation_p.A4T	p.A4T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			1	253	-			4						Missense_Mutation	SNP	ENST00000243349.8	37	c.10G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520436	0.64747	.	.	ENSG00000123612	ENST00000243349;ENST00000348328;ENST00000335450	D;D;D	0.92545	-2.34;-3.06;-2.5	3.88	2.95	0.34219	.	0.000000	0.43579	U	0.000560	D	0.85978	0.5823	L	0.58101	1.795	0.20196	N	0.999929	P;B;P	0.40000	0.698;0.448;0.573	B;B;B	0.27170	0.077;0.046;0.035	T	0.76509	-0.2933	10	0.38643	T	0.18	.	8.6779	0.34189	0.2286:0.7714:0.0:0.0	.	4;4;4	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	T	4	ENSP00000243349:A4T;ENSP00000335139:A4T;ENSP00000335178:A4T	ENSP00000243349:A4T	A	-	1	0	ACVR1C	158193393	0.982000	0.34865	0.737000	0.30932	0.911000	0.54048	1.225000	0.32551	0.681000	0.31386	0.313000	0.20887	GCG		0.751	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
CPS1	1373	broad.mit.edu	37	2	211476895	211476895	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:211476895T>C	ENST00000233072.5	+	20	2642	c.2446T>C	c.(2446-2448)Tgc>Cgc	p.C816R	CPS1_ENST00000451903.2_Missense_Mutation_p.C365R|CPS1_ENST00000430249.2_Missense_Mutation_p.C822R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	816			C -> R (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTACGGATGTGCCACCCATC	0.413																																						uc002vee.3																			0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2446-2448)TGC>CGC		carbamoyl-phosphate synthetase 1 isoform b							146.0	146.0	146.0					2																	211476895		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476895T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2446T>C	2.37:g.211476895T>C	ENSP00000233072:p.Cys816Arg					CPS1_uc010fur.2_Missense_Mutation_p.C822R|CPS1_uc010fus.2_Missense_Mutation_p.C365R	p.C816R	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2578	+			816					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2446T>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340123	0.81911	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.95482	-3.72;-3.72;-3.72	5.25	5.25	0.73442	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	L	0.46741	1.465	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.51806	0.68;0.68	D	0.95666	0.8719	10	0.87932	D	0	.	15.4451	0.75223	0.0:0.0:0.0:1.0	.	826;816	Q59HF8;P31327	.;CPSM_HUMAN	R	822;824;816;365	ENSP00000402608:C822R;ENSP00000233072:C816R;ENSP00000406136:C365R	ENSP00000233072:C816R	C	+	1	0	CPS1	211185140	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.456000	0.80751	2.106000	0.64143	0.455000	0.32223	TGC		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CYP27A1	1593	broad.mit.edu	37	2	219677652	219677652	+	Missense_Mutation	SNP	A	A	C	rs72551319		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:219677652A>C	ENST00000258415.4	+	5	1277	c.850A>C	c.(850-852)Aag>Cag	p.K284Q		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	284					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CACAGGGAAGAAGCTGATTGA	0.517																																						uc002viz.3																			0				ovary(1)	1	GRCh37	CM942104	CYP27A1	M	rs72551319	c.(850-852)AAG>CAG		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						76.0	79.0	78.0					2																	219677652		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677652A>C	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.850A>C	2.37:g.219677652A>C	ENSP00000258415:p.Lys284Gln						p.K284Q	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	5	1284	+		Renal(207;0.0474)	284					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.850A>C	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393182	0.42410	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.67865	-0.29;-0.29	5.44	5.44	0.79542	.	0.431905	0.28841	N	0.013968	T	0.62417	0.2426	L	0.55481	1.735	0.39867	D	0.973451	B	0.24258	0.1	B	0.19666	0.026	T	0.61520	-0.7046	10	0.39692	T	0.17	-25.2237	14.836	0.70183	1.0:0.0:0.0:0.0	.	284	Q02318	CP27A_HUMAN	Q	284;190	ENSP00000258415:K284Q;ENSP00000392671:K190Q	ENSP00000258415:K284Q	K	+	1	0	CYP27A1	219385896	0.990000	0.36364	1.000000	0.80357	0.989000	0.77384	2.253000	0.43205	2.285000	0.76669	0.533000	0.62120	AAG		0.517	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
C2orf54	79919	broad.mit.edu	37	2	241831024	241831024	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:241831024G>A	ENST00000388934.4	-	2	829	c.671C>T	c.(670-672)cCt>cTt	p.P224L	C2orf54_ENST00000307486.8_Missense_Mutation_p.P75L|C2orf54_ENST00000402775.2_Missense_Mutation_p.P56L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	224										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTGCCCTCAGGGAATCCGGG	0.647																																						uc002wae.3																			0					0						c.(670-672)CCT>CTT		hypothetical protein LOC79919 isoform 1							48.0	57.0	54.0					2																	241831024		2014	4171	6185	SO:0001583	missense	79919							g.chr2:241831024G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.671C>T	2.37:g.241831024G>A	ENSP00000373586:p.Pro224Leu					C2orf54_uc002wac.2_Missense_Mutation_p.P56L|C2orf54_uc002wad.2_Missense_Mutation_p.P75L	p.P224L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	830	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	224					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.671C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447276	0.63178	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.14516	2.76;2.76;2.5	4.11	4.11	0.48088	.	0.000000	0.53938	D	0.000052	T	0.35740	0.0942	M	0.74881	2.28	0.48087	D	0.999585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.17048	-1.0382	10	0.87932	D	0	-1.4949	12.186	0.54239	0.0:0.0:1.0:0.0	.	224;75;56	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	L	56;75;224	ENSP00000385338:P56L;ENSP00000302779:P75L;ENSP00000373586:P224L	ENSP00000302779:P75L	P	-	2	0	C2orf54	241479697	1.000000	0.71417	0.087000	0.20705	0.008000	0.06430	3.915000	0.56409	2.013000	0.59113	0.491000	0.48974	CCT		0.647	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
COL18A1	80781	broad.mit.edu	37	21	46875768	46875768	+	Silent	SNP	C	C	T	rs370000815		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr21:46875768C>T	ENST00000359759.4	+	1	345	c.324C>T	c.(322-324)gcC>gcT	p.A108A	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.A108A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	108					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGAACATTGCCGGTGTCGGAG	0.642																																						uc011afs.1																			0				central_nervous_system(1)	1						c.(322-324)GCC>GCT		alpha 1 type XVIII collagen isoform 3 precursor		C	,	0,4298		0,0,2149	40.0	49.0	46.0		324,	-6.8	0.1	21		46	1,8517		0,1,4258	no	coding-synonymous,intron	COL18A1	NM_030582.3,NM_130445.2	,	0,1,6407	TT,TC,CC		0.0117,0.0,0.0078	,	108/1520,	46875768	1,12815	2149	4259	6408	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875768C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.324C>T	21.37:g.46875768C>T						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.A108A	p.A108A	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	345	+			108					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.324C>T																																																																																					0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.1																			0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
CX3CR1	1524	broad.mit.edu	37	3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T	rs373233918		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:39307958C>T	ENST00000541347.1	-	2	282	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CX3CR1_ENST00000542107.1_Missense_Mutation_p.D15N|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D15N|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D47N	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	15					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448																																						uc003cjl.2																			1	Substitution - Missense(1)		skin(1)	lung(3)	3						c.(43-45)GAT>AAT		chemokine (C-X3-C motif) receptor 1							67.0	67.0	67.0					3																	39307958		1933	4148	6081	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307958C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.43G>A	3.37:g.39307958C>T	ENSP00000439140:p.Asp15Asn						p.D15N	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	135	-			15			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.43G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560687	0.45590	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.66638	-0.22;-0.21;-0.22;-0.22;1.55;1.39	5.39	4.51	0.55191	.	0.654924	0.14021	N	0.346813	T	0.68613	0.3020	M	0.77313	2.365	0.09310	N	1	D	0.60575	0.988	B	0.42319	0.383	T	0.63161	-0.6699	10	0.46703	T	0.11	.	14.1756	0.65539	0.1511:0.8489:0.0:0.0	.	15	P49238	CX3C1_HUMAN	N	15;23;47;15;15;15;15	ENSP00000382166:D15N;ENSP00000351059:D47N;ENSP00000439140:D15N;ENSP00000444928:D15N;ENSP00000394960:D15N;ENSP00000408835:D15N	ENSP00000351059:D47N	D	-	1	0	CX3CR1	39282962	0.213000	0.23551	0.254000	0.24359	0.113000	0.19764	1.006000	0.29847	1.267000	0.44247	0.655000	0.94253	GAT		0.448	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
PHF7	51533	broad.mit.edu	37	3	52442518	52442518	+	5'Flank	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:52442518A>G	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.I76T|BAP1_ENST00000296288.5_Missense_Mutation_p.I76T	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTTATTCACAATATCATCATC	0.478																																						uc003ddx.2										N|Mis|F|S|O							uveal melanoma|breast|NSCLC		2	Deletion - Frameshift(2)		eye(1)|pleura(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(226-228)ATT>ACT		BRCA1 associated protein-1							66.0	55.0	59.0					3																	52442518		2202	4299	6501	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442518A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442518A>G	Exception_encountered					PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	p.I76T	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	342	-			76					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.227T>C	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719674	0.68844	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53640	0.61;0.61	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.101747	0.64402	D	0.000002	T	0.47857	0.1468	L	0.35644	1.08	0.80722	D	1	P	0.41080	0.737	P	0.46685	0.524	T	0.42783	-0.9431	10	0.40728	T	0.16	-2.6379	15.6492	0.77078	1.0:0.0:0.0:0.0	.	76	Q92560	BAP1_HUMAN	T	76	ENSP00000417132:I76T;ENSP00000296288:I76T	ENSP00000296288:I76T	I	-	2	0	BAP1	52417558	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.297000	0.96120	2.106000	0.64143	0.533000	0.62120	ATT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483	
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						uc003dgl.2																			0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1294-1296)GGGfs		protein kinase C, delta							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	p.G432fs	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	14	1647	+		Ovarian(412;0.0728)	432			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
ATXN7	6314	broad.mit.edu	37	3	63898472	63898472	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:63898472C>T	ENST00000295900.6	+	3	748	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ATXN7_ENST00000538065.1_Silent_p.G66G|ATXN7_ENST00000398590.3_Silent_p.G66G|ATXN7_ENST00000487717.1_Silent_p.G66G	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	66					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcgggcccggcgccgccTCCA	0.746																																						uc003dlw.3																			0					0						c.(196-198)GGC>GGT		ataxin 7 isoform a							16.0	18.0	17.0					3																	63898472		1822	4046	5868	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63898472C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.198C>T	3.37:g.63898472C>T						ATXN7_uc003dlv.2_Silent_p.G66G|ATXN7_uc010hnv.2_Silent_p.G66G|ATXN7_uc010hnu.1_RNA	p.G66G	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	3	751	+		Prostate(884;0.0181)	66					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.198C>T	CCDS43102.1																																																																																				0.746	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
U2SURP	23350	broad.mit.edu	37	3	142731118	142731118	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:142731118A>G	ENST00000473835.2	+	3	235	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S49G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	49					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACGACCTAAGAGCCCAAGAAA	0.388																																						uc003evh.1																			0					0						c.(145-147)AGC>GGC		U2-associated SR140 protein							88.0	81.0	83.0					3																	142731118		1850	4080	5930	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142731118A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.145A>G	3.37:g.142731118A>G	ENSP00000418563:p.Ser49Gly					SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.S49G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S49G	p.S49G	NM_001080415	NP_001073884	O15042	SR140_HUMAN			3	244	+			49					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.145A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113447	0.56398	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11063	2.81;2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28667	0.14;0.219;0.14	B;P;P	0.51806	0.153;0.68;0.481	T	0.35176	-0.9799	10	0.87932	D	0	-10.2041	12.5837	0.56406	1.0:0.0:0.0:0.0	.	49;49;49	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	G	49;49;49;49;19	ENSP00000418563:S49G;ENSP00000422011:S49G	ENSP00000322376:S49G	S	+	1	0	U2SURP	144213808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.088000	0.57678	2.285000	0.76669	0.533000	0.62120	AGC		0.388	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
ZBBX	79740	broad.mit.edu	37	3	167034878	167034878	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:167034878A>T	ENST00000392766.2	-	14	1449	c.1109T>A	c.(1108-1110)gTa>gAa	p.V370E	ZBBX_ENST00000455345.2_Missense_Mutation_p.V370E|ZBBX_ENST00000392764.1_Missense_Mutation_p.V341E|ZBBX_ENST00000392767.2_Missense_Mutation_p.V370E|ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000307529.5_Missense_Mutation_p.V370E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	370						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGTGTTGTACTTTGGTCTC	0.328																																						uc003fep.2																			0				ovary(2)	2						c.(1108-1110)GTA>GAA		zinc finger, B-box domain containing							166.0	152.0	156.0					3																	167034878		1848	4084	5932	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167034878A>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1109T>A	3.37:g.167034878A>T	ENSP00000376519:p.Val370Glu					ZBBX_uc011bpc.1_Missense_Mutation_p.V370E|ZBBX_uc003feq.2_Missense_Mutation_p.V341E	p.V370E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			14	1432	-			370					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1109T>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868122	0.32977	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10573	3.02;3.02;3.02;3.02;2.86	5.88	2.08	0.27032	.	0.956028	0.08669	N	0.911192	T	0.09686	0.0238	L	0.42245	1.32	0.09310	N	1	B;B	0.28850	0.225;0.144	B;B	0.27262	0.078;0.035	T	0.33879	-0.9851	10	0.62326	D	0.03	-2.9437	4.2382	0.10635	0.6789:0.0:0.1695:0.1516	.	370;370	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	370;370;370;370;341	ENSP00000376519:V370E;ENSP00000376520:V370E;ENSP00000390232:V370E;ENSP00000305065:V370E;ENSP00000376517:V341E	ENSP00000305065:V370E	V	-	2	0	ZBBX	168517572	0.000000	0.05858	0.795000	0.32087	0.118000	0.20060	0.492000	0.22435	1.060000	0.40578	0.533000	0.62120	GTA		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
TMEM44	93109	broad.mit.edu	37	3	194325157	194325157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:194325157delG	ENST00000392432.2	-	10	1381	c.1176delC	c.(1174-1176)accfs	p.T392fs	TMEM44_ENST00000381975.3_Frame_Shift_Del_p.P344fs|TMEM44_ENST00000347147.4_Frame_Shift_Del_p.T345fs|TMEM44_ENST00000273580.7_Frame_Shift_Del_p.T345fs|TMEM44_ENST00000473092.1_Frame_Shift_Del_p.T345fs	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	392						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGGCAGCCTGGTGGCACTGC	0.597																																						uc010hzn.2																			0					0						c.(1174-1176)ACCfs		transmembrane protein 44 isoform b							18.0	16.0	17.0					3																	194325157		2147	4195	6342	SO:0001589	frameshift_variant	93109					integral to membrane		g.chr3:194325157delG	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1176delC	3.37:g.194325157delG	ENSP00000376227:p.Thr392fs					TMEM44_uc010hzm.2_Frame_Shift_Del_p.P76fs|TMEM44_uc003fuc.2_Frame_Shift_Del_p.T77fs|TMEM44_uc003fue.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fud.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuf.2_Frame_Shift_Del_p.P344fs|TMEM44_uc011bsv.1_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_RNA	p.T392fs	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	10	1345	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		392			Cytoplasmic (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Frame_Shift_Del	DEL	ENST00000392432.2	37	c.1176delC	CCDS54699.1																																																																																				0.597	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399	
KIAA0232	9778	broad.mit.edu	37	4	6865692	6865692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:6865692C>T	ENST00000307659.5	+	7	4038	c.3583C>T	c.(3583-3585)Cag>Tag	p.Q1195*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.Q1195*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1195							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACTGGATTCCCAGGAGGAATC	0.408																																						uc003gjr.3																			0				ovary(2)	2						c.(3583-3585)CAG>TAG		hypothetical protein LOC9778							54.0	52.0	53.0					4																	6865692		1814	4069	5883	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6865692C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3583C>T	4.37:g.6865692C>T	ENSP00000303928:p.Gln1195*					KIAA0232_uc003gjq.3_Nonsense_Mutation_p.Q1195*	p.Q1195*	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	4046	+			1195					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.3583C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	46	12.856516	0.99701	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.4116	19.1974	0.93695	0.0:1.0:0.0:0.0	.	.	.	.	X	1195	.	ENSP00000303928:Q1195X	Q	+	1	0	KIAA0232	6916593	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.380000	0.79704	2.708000	0.92522	0.655000	0.94253	CAG		0.408	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
NAAA	27163	broad.mit.edu	37	4	76842123	76842123	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:76842123G>C	ENST00000286733.4	-	6	921	c.820C>G	c.(820-822)Cta>Gta	p.L274V	NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000505594.1_Missense_Mutation_p.L173V|NAAA_ENST00000507956.1_Missense_Mutation_p.L274V|NAAA_ENST00000399497.3_Missense_Mutation_p.L274V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	274					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAGGATCTAGAGGCCAAATG	0.433																																						uc003hjb.2																			0				skin(1)	1						c.(820-822)CTA>GTA		N-acylethanolamine acid amidase isoform 1							73.0	73.0	73.0					4																	76842123		1904	4107	6011	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76842123G>C	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.820C>G	4.37:g.76842123G>C	ENSP00000286733:p.Leu274Val					NAAA_uc003hja.2_Missense_Mutation_p.L274V|NAAA_uc003hjc.3_Missense_Mutation_p.L274V|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.L173V	p.L274V	NM_014435	NP_055250	Q02083	NAAA_HUMAN			6	884	-			274					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.820C>G	CCDS43239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323967|4.323967	0.81580|0.81580	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594|ENST00000513045	T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84929|0.84929	0.5581|0.5581	M|M	0.90425|0.90425	3.115|3.115	0.53688|0.53688	D|D	0.999977|0.999977	D;D|.	0.65815|.	0.995;0.995|.	D;D|.	0.68353|.	0.942;0.957|.	D|D	0.86902|0.86902	0.2055|0.2055	10|5	0.40728|.	T|.	0.16|.	-10.6814|-10.6814	17.7344|17.7344	0.88388|0.88388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;274|.	B4DVL2;Q02083|.	.;NAAA_HUMAN|.	V|C	274;274;274;173|78	ENSP00000382420:L274V;ENSP00000286733:L274V;ENSP00000427641:L274V;ENSP00000426977:L173V|.	ENSP00000286733:L274V|.	L|S	-|-	1|2	2|0	NAAA|NAAA	77061147|77061147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.129000|4.129000	0.57957|0.57957	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	CTA|TCT		0.433	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		
GATB	5188	broad.mit.edu	37	4	152592379	152592379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:152592379G>A	ENST00000515812.1	-	12	1514	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PET112_ENST00000263985.6_Nonsense_Mutation_p.R541*|PET112_ENST00000507592.1_5'UTR|RP11-164P12.4_ENST00000508664.1_RNA																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GGATCTGCTCGGCTTTGAGTC	0.453																																						uc003iml.2																			0					0						c.(1621-1623)CGA>TGA		PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						162.0	153.0	156.0					4																	152592379		2203	4300	6503	SO:0001587	stop_gained	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152592379G>A																												ENST00000515812.1:c.1498C>T	4.37:g.152592379G>A	ENSP00000426859:p.Arg500*					PET112L_uc003imk.2_RNA	p.R541*	NM_004564	NP_004555	O75879	GATB_HUMAN			13	1633	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	541						Nonsense_Mutation	SNP	ENST00000515812.1	37	c.1621C>T		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154246	0.78114	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	.	.	.	5.8	4.93	0.64822	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	4.6239	13.9525	0.64126	0.0:0.0:0.8479:0.1521	.	.	.	.	X	541;500	.	ENSP00000263985:R541X	R	-	1	2	PET112	152811829	1.000000	0.71417	0.982000	0.44146	0.155000	0.21991	3.982000	0.56909	1.386000	0.46466	0.655000	0.94253	CGA		0.453	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
ETFDH	2110	broad.mit.edu	37	4	159603468	159603468	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:159603468T>C	ENST00000511912.1	+	3	629	c.297T>C	c.(295-297)cgT>cgC	p.R99R	ETFDH_ENST00000307738.5_Silent_p.R52R	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	99					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACATCCGTGTGTGTCTAG	0.502																																						uc003iqb.2																			0				large_intestine(2)|skin(1)	3						c.(295-297)CGT>CGC		electron-transferring-flavoprotein dehydrogenase							168.0	172.0	170.0					4																	159603468		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159603468T>C	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.297T>C	4.37:g.159603468T>C						ETFDH_uc011cjg.1_Silent_p.R52R|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Silent_p.R38R|ETFDH_uc010iqs.2_Silent_p.R38R	p.R99R	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	3	629	+	all_hematologic(180;0.24)	Renal(120;0.0458)	99					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.297T>C	CCDS3800.1																																																																																				0.502	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		
PCDHGB1	56104	broad.mit.edu	37	5	140729895	140729896	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr5:140729895_140729896delTC	ENST00000523390.1	+	1	68_69	c.68_69delTC	c.(67-69)ttcfs	p.F23fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTTTGTTCTGCGGGGCCA	0.55											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.1																			0					0						c.(67-69)TTCfs		protocadherin gamma subfamily B, 1 isoform 1																																				SO:0001589	frameshift_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140729895_140729896delTC	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.68_69delTC	5.37:g.140729895_140729896delTC	ENSP00000429273:p.Phe23fs		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.F23fs	p.F23fs	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	68_69	+			23					Q3SY75|Q9Y5C8	Frame_Shift_Del	DEL	ENST00000523390.1	37	c.68_69delTC	CCDS54923.1																																																																																				0.550	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
C6orf10	10665	broad.mit.edu	37	6	32260945	32260945	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32260945T>A	ENST00000447241.2	-	23	1677	c.1505A>T	c.(1504-1506)gAa>gTa	p.E502V	C6orf10_ENST00000527965.1_Missense_Mutation_p.E486V|C6orf10_ENST00000375015.4_Missense_Mutation_p.E501V|C6orf10_ENST00000375007.4_Missense_Mutation_p.E500V|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000533191.1_Missense_Mutation_p.E500V	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	502	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tctctccttttctttatcatt	0.363																																						uc011dpy.1																			0				skin(1)	1						c.(1504-1506)GAA>GTA		chromosome 6 open reading frame 10							116.0	122.0	120.0					6																	32260945		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32260945T>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1505A>T	6.37:g.32260945T>A	ENSP00000415517:p.Glu502Val					C6orf10_uc011dpx.1_Intron	p.E502V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1678	-			502			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1505A>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749629	0.30955	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.04654	3.59;3.6;3.59;3.59;3.58	1.89	0.453	0.16639	.	.	.	.	.	T	0.06234	0.0161	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.21075	-1.0256	9	0.72032	D	0.01	.	6.2731	0.20965	0.0:0.0:0.2873:0.7127	.	502	Q5SRN2	CF010_HUMAN	V	502;501;500;486;500;499;499	ENSP00000415517:E502V;ENSP00000364155:E501V;ENSP00000431199:E500V;ENSP00000435103:E486V;ENSP00000364146:E500V	ENSP00000303292:E499V	E	-	2	0	C6orf10	32368923	0.009000	0.17119	0.022000	0.16811	0.060000	0.15804	0.116000	0.15561	-0.066000	0.12998	0.454000	0.30748	GAA		0.363	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	
HLA-DMB	3109	broad.mit.edu	37	6	32903319	32903319	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32903319G>A	ENST00000418107.2	-	4	995	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	245					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCACTAGAGTGGCCAGCTCTC	0.537																																						uc003ocl.1																			0					0						c.(733-735)CAC>TAC		major histocompatibility complex, class II, DM							106.0	119.0	114.0					6																	32903319		1509	2709	4218	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32903319G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.733C>T	6.37:g.32903319G>A	ENSP00000398890:p.His245Tyr					HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron	p.H245Y	NM_002118	NP_002109	P28068	DMB_HUMAN			4	966	-			245			Cytoplasmic (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.733C>T	CCDS4760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.444|7.444	0.641393|0.641393	0.14451|0.14451	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000446948;ENST00000418107|ENST00000414017	T|.	0.00986|.	5.47|.	4.81|4.81	-1.76|-1.76	0.08006|0.08006	.|.	1.580120|.	0.03701|.	N|.	0.248606|.	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.0;0.007|.	B;B|.	0.15484|.	0.0;0.013|.	T|T	0.40627|0.40627	-0.9553|-0.9553	10|5	0.54805|.	T|.	0.06|.	.|.	8.775|8.775	0.34756|0.34756	0.5287:0.0:0.4713:0.0|0.5287:0.0:0.4713:0.0	.|.	134;245|.	B0V062;P28068|.	.;DMB_HUMAN|.	Y|L	245|134	ENSP00000398890:H245Y|.	ENSP00000398890:H245Y|.	H|P	-|-	1|2	0|0	HLA-DMB|HLA-DMB	33011297|33011297	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.516000|0.516000	0.34256|0.34256	-0.708000|-0.708000	0.05035|0.05035	-0.354000|-0.354000	0.08212|0.08212	-0.522000|-0.522000	0.04353|0.04353	CAC|CCA		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	
GRM4	2914	broad.mit.edu	37	6	34004117	34004117	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:34004117C>T	ENST00000538487.2	-	9	2213	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	GRM4_ENST00000455714.2_Silent_p.L450L|GRM4_ENST00000535756.1_Silent_p.L457L|GRM4_ENST00000374177.3_Silent_p.L474L|GRM4_ENST00000609222.1_Silent_p.L457L|GRM4_ENST00000544773.2_Silent_p.L421L|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.L590L	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	590					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAAGAGGGGCAGCACGGCCC	0.647																																						uc003oir.3																			0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1768-1770)CTG>CTA		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						50.0	46.0	47.0					6																	34004117		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004117C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1770G>A	6.37:g.34004117C>T						GRM4_uc011dsn.1_Silent_p.L543L|GRM4_uc010jvh.2_Silent_p.L590L|GRM4_uc010jvi.2_Silent_p.L282L|GRM4_uc003oio.2_Silent_p.L282L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L450L|GRM4_uc003oiq.2_Silent_p.L457L|GRM4_uc011dsm.1_Silent_p.L421L	p.L590L	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	1940	-			590			Helical; Name=1; (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1770G>A	CCDS4787.1																																																																																				0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
MCM3	4172	broad.mit.edu	37	6	52149470	52149470	+	Start_Codon_SNP	SNP	C	C	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:52149470C>G	ENST00000229854.7	-	1	79	c.3G>C	c.(1-3)atG>atC	p.M1I	MCM3_ENST00000419835.2_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.M46I			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	1					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGGTACCCGCCATGCCCGCTG	0.642																																						uc003pan.1																			0				ovary(1)|lung(1)|skin(1)	3						c.(1-3)ATG>ATC		minichromosome maintenance complex component 3							30.0	30.0	30.0					6																	52149470		2203	4300	6503	SO:0001582	initiator_codon_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52149470C>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.3G>C	6.37:g.52149470C>G	ENSP00000229854:p.Met1Ile					MCM3_uc011dwu.1_5'UTR	p.M1I	NM_002388	NP_002379	P25205	MCM3_HUMAN			1	113	-	Lung NSC(77;0.0931)		1					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.3G>C		.	.	.	.	.	.	.	.	.	.	C	18.89	3.719290	0.68844	.	.	ENSG00000112118	ENST00000229854	T	0.02103	4.45	5.12	5.12	0.69794	.	0.258733	0.38326	N	0.001736	T	0.05181	0.0138	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.53655	-0.8408	9	0.31617	T	0.26	-27.5911	18.7515	0.91818	0.0:1.0:0.0:0.0	.	1	P25205	MCM3_HUMAN	I	1	ENSP00000229854:M1I	ENSP00000229854:M1I	M	-	3	0	MCM3	52257429	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	6.167000	0.71902	2.667000	0.90743	0.655000	0.94253	ATG		0.642	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		Missense_Mutation
IKZF1	10320	broad.mit.edu	37	7	50450397	50450397	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:50450397C>T	ENST00000331340.3	+	5	736	c.581C>T	c.(580-582)aCg>aTg	p.T194M	IKZF1_ENST00000439701.1_Missense_Mutation_p.T194M|IKZF1_ENST00000357364.4_Missense_Mutation_p.T194M|IKZF1_ENST00000359197.5_Missense_Mutation_p.T194M|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.T107M|IKZF1_ENST00000438033.1_Missense_Mutation_p.T107M|IKZF1_ENST00000440768.2_Missense_Mutation_p.T194M|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	194	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization. {ECO:0000250}.				B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCTGAGGACGCACTCCGGT	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3				"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		131	Unknown(131)	p.?(74)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(580-582)ACG>ATG		zinc finger protein, subfamily 1A, 1 (Ikaros)							19.0	23.0	22.0					7																	50450397		2118	4237	6355	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50450397C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.581C>T	7.37:g.50450397C>T	ENSP00000331614:p.Thr194Met					IKZF1_uc003tox.3_Missense_Mutation_p.T194M|IKZF1_uc003toy.3_Missense_Mutation_p.T194M|IKZF1_uc011kck.1_Missense_Mutation_p.T107M|IKZF1_uc003toz.3_Missense_Mutation_p.T164M|IKZF1_uc010kyx.2_Intron	p.T194M	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			6	749	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	194			C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.581C>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.652311	0.88056	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000440768;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T	0.42900	2.08;0.96;0.96;3.19;2.08;2.08;0.96	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.996	T	0.68131	-0.5490	9	0.56958	D	0.05	-14.4457	20.428	0.99075	0.0:1.0:0.0:0.0	.	107;194;194	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	M	107;194;194;194;194;107;194	ENSP00000342750:T107M;ENSP00000352123:T194M;ENSP00000401507:T194M;ENSP00000349928:T194M;ENSP00000331614:T194M;ENSP00000396554:T107M;ENSP00000413025:T194M	ENSP00000331614:T194M	T	+	2	0	IKZF1	50417891	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.815000	0.86186	2.837000	0.97791	0.655000	0.94253	ACG		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
TAF6	6878	broad.mit.edu	37	7	99711354	99711354	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:99711354G>A	ENST00000344095.4	-	4	807	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.F94F|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_Silent_p.F37F|TAF6_ENST00000472509.1_Silent_p.F151F|TAF6_ENST00000453269.2_Silent_p.F94F|TAF6_ENST00000437822.2_Silent_p.F131F	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	94					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGAAGCGGAAAGGAATGA	0.602																																						uc003uti.2																			0				ovary(1)|central_nervous_system(1)	2						c.(280-282)TTC>TTT		TBP-associated factor 6 isoform alpha							40.0	42.0	41.0					7																	99711354		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711354G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.282C>T	7.37:g.99711354G>A						TAF6_uc003utg.2_Silent_p.F35F|TAF6_uc003uth.2_Silent_p.F151F|TAF6_uc003utk.2_Silent_p.F94F|TAF6_uc011kji.1_Silent_p.F131F|TAF6_uc003utj.2_Silent_p.F84F|TAF6_uc003utl.2_Silent_p.F94F|TAF6_uc003utm.2_Silent_p.F94F|TAF6_uc003utn.1_RNA	p.F94F	NM_139315	NP_647476	P49848	TAF6_HUMAN			4	363	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		94					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.282C>T	CCDS5686.1																																																																																				0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641	
PIK3CG	5294	broad.mit.edu	37	7	106509904	106509904	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:106509904G>A	ENST00000359195.3	+	2	2208	c.1898G>A	c.(1897-1899)tGc>tAc	p.C633Y	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C633Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C633Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	633	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCTGGACTGCAACTTCTCA	0.448																																						uc003vdv.3																			0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1897-1899)TGC>TAC		phosphoinositide-3-kinase, catalytic, gamma							65.0	64.0	64.0					7																	106509904		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509904G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1898G>A	7.37:g.106509904G>A	ENSP00000352121:p.Cys633Tyr					PIK3CG_uc003vdu.2_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.2_Missense_Mutation_p.C633Y	p.C633Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1983	+			633					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1898G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641415	0.47153	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.63913	-0.07;-0.07;-0.07	5.54	5.54	0.83059	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.081458	0.85682	D	0.000000	T	0.47266	0.1436	N	0.21617	0.685	0.80722	D	1	B	0.17852	0.024	B	0.13407	0.009	T	0.47535	-0.9110	10	0.02654	T	1	-22.6747	19.5024	0.95100	0.0:0.0:1.0:0.0	.	633	P48736	PK3CG_HUMAN	Y	633	ENSP00000392258:C633Y;ENSP00000419260:C633Y;ENSP00000352121:C633Y	ENSP00000352121:C633Y	C	+	2	0	PIK3CG	106297140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.496000	0.97967	2.607000	0.88179	0.655000	0.94253	TGC		0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
ADAMDEC1	27299	broad.mit.edu	37	8	24251623	24251623	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:24251623C>A	ENST00000256412.4	+	4	546	c.326C>A	c.(325-327)cCc>cAc	p.P109H	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P30H|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.P30H|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	109					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				skin(2)	2						c.(325-327)CCC>CAC		ADAM-like, decysin 1 isoform 1							76.0	72.0	74.0					8																	24251623		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24251623C>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.326C>A	8.37:g.24251623C>A	ENSP00000256412:p.Pro109His					ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	p.P109H	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	4	546	+		Prostate(55;0.0181)	109					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.326C>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606745	0.46527	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.06142	3.34;3.34;3.34	5.46	5.46	0.80206	Peptidase M12B, propeptide (1);	0.308092	0.28527	N	0.015025	T	0.28300	0.0699	M	0.85462	2.755	0.29146	N	0.878724	D	0.76494	0.999	D	0.70016	0.967	T	0.08932	-1.0698	10	0.87932	D	0	-8.199	15.1532	0.72717	0.0:1.0:0.0:0.0	.	109	O15204	ADEC1_HUMAN	H	109;30;30	ENSP00000256412:P109H;ENSP00000442592:P30H;ENSP00000428993:P30H	ENSP00000256412:P109H	P	+	2	0	ADAMDEC1	24307568	0.001000	0.12720	0.687000	0.30102	0.076000	0.17211	1.172000	0.31908	2.706000	0.92434	0.563000	0.77884	CCC		0.463	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
SNTB1	6641	broad.mit.edu	37	8	121644863	121644863	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:121644863T>C	ENST00000395601.3	-	4	1231	c.817A>G	c.(817-819)Aag>Gag	p.K273E	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.K273E	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	273	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCGTGTGCTTAGCATCTGGA	0.527																																						uc010mdg.2																			0				skin(5)	5						c.(817-819)AAG>GAG		basic beta 1 syntrophin							110.0	100.0	103.0					8																	121644863		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644863T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.817A>G	8.37:g.121644863T>C	ENSP00000378965:p.Lys273Glu					SNTB1_uc003ype.2_Missense_Mutation_p.K273E	p.K273E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1043	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		273			PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.817A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609448	0.46527	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.55588	0.51;0.51	6.03	4.81	0.61882	Pleckstrin homology domain (2);	0.094778	0.64402	D	0.000001	T	0.45094	0.1325	L	0.59436	1.845	0.53005	D	0.999969	B;P	0.43287	0.024;0.802	B;B	0.40677	0.01;0.337	T	0.46610	-0.9179	10	0.05525	T	0.97	.	13.0341	0.58860	0.0:0.0:0.1341:0.8659	.	273;273	Q13884;Q13884-2	SNTB1_HUMAN;.	E	273	ENSP00000378965:K273E;ENSP00000431124:K273E	ENSP00000378965:K273E	K	-	1	0	SNTB1	121714044	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.357000	0.44125	2.313000	0.78055	0.454000	0.30748	AAG		0.527	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021	
SH2D3C	10044	broad.mit.edu	37	9	130507361	130507361	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:130507361C>T	ENST00000314830.8	-	7	1395	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SH2D3C_ENST00000373277.4_Missense_Mutation_p.A271T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A360T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A74T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A268T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A270T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	428					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTGCAGGGGCGGCATGGACA	0.627																																						uc004bsc.2																			0				ovary(1)	1						c.(1282-1284)GCC>ACC		SH2 domain containing 3C isoform a							17.0	22.0	20.0					9																	130507361		2172	4250	6422	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507361C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1282G>A	9.37:g.130507361C>T	ENSP00000317817:p.Ala428Thr					SH2D3C_uc010mxo.2_Missense_Mutation_p.A268T|SH2D3C_uc004bry.2_Missense_Mutation_p.A270T|SH2D3C_uc004brz.3_Missense_Mutation_p.A74T|SH2D3C_uc011mak.1_Missense_Mutation_p.A74T|SH2D3C_uc004bsa.2_Missense_Mutation_p.A271T|SH2D3C_uc004bsb.2_Missense_Mutation_p.A360T	p.A428T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1424	-			428					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1282G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	2.383	-0.341737	0.05243	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	3.72	-4.06	0.03986	.	1.414110	0.04235	N	0.335926	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.11227	-1.0596	10	0.13470	T	0.59	-0.0691	3.8623	0.09001	0.1252:0.1921:0.1119:0.5709	.	268;428;360;271;270	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	T	271;270;360;268;74;428	ENSP00000362374:A271T;ENSP00000388536:A270T;ENSP00000362373:A360T;ENSP00000362371:A268T;ENSP00000394632:A74T;ENSP00000317817:A428T	ENSP00000317817:A428T	A	-	1	0	SH2D3C	129547182	0.000000	0.05858	0.002000	0.10522	0.630000	0.37929	-2.220000	0.01217	-1.018000	0.03363	-0.379000	0.06801	GCC		0.627	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
GFI1B	8328	broad.mit.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	A	rs145562579	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:135863634G>A	ENST00000339463.3	+	8	1108	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GFI1B_ENST00000450530.1_Missense_Mutation_p.D97N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D97N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D97N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D97N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D97N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	97	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D97Y(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587													G|||	59	0.0117812	0.0008	0.0	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0593					uc004ccg.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(289-291)GAC>AAC		growth factor independent 1B transcription		G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	109.0	94.0	99.0		289,289	3.7	0.9	9	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	GFI1B	NM_001135031.1,NM_004188.4	23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	97/285,97/331	135863634	2,13004	2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863634G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.289G>A	9.37:g.135863634G>A	ENSP00000344782:p.Asp97Asn					GFI1B_uc010mzy.2_Missense_Mutation_p.D97N	p.D97N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	4	440	+			97			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.289G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627217	0.46944	4.54E-4	0.0	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08634	3.2;3.07;3.07;3.2;3.2;3.07	4.6	3.69	0.42338	.	0.710545	0.13222	N	0.404314	T	0.04952	0.0133	N	0.16478	0.41	0.20926	N	0.999829	B;B	0.12013	0.005;0.001	B;B	0.04013	0.001;0.001	T	0.38178	-0.9673	10	0.18710	T	0.47	-26.2484	7.6508	0.28348	0.1146:0.0:0.8854:0.0	.	97;97	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	97	ENSP00000361197:D97N;ENSP00000344782:D97N;ENSP00000409546:D97N;ENSP00000446134:D97N;ENSP00000361196:D97N;ENSP00000361195:D97N	ENSP00000344782:D97N	D	+	1	0	GFI1B	134853455	0.967000	0.33354	0.884000	0.34674	0.953000	0.61014	2.544000	0.45761	2.075000	0.62263	0.563000	0.77884	GAC		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188	
AKAP17A	8227	broad.mit.edu	37	X	1719770	1719770	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:1719770C>T	ENST00000313871.3	+	5	1567	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	457					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACGAGCTGGGCGTGGCACACG	0.701													c|||	3	0.000599042	0.0015	0.0	5008	,	,		13965	0.001		0.0	False		,,,				2504	0.0					uc004cqa.2																			0					0						c.(1369-1371)GGC>GGT		DNA segment on chromosome X and Y (unique) 155			,	2,4366		0,2,2182	25.0	23.0	24.0		,1371	-3.1	0.0	X		24	0,8542		0,0,4271	no	intron,coding-synonymous	ASMT,AKAP17A	NM_004043.2,NM_005088.2	,	0,2,6453	TT,TC,CC		0.0,0.0458,0.0155	,	,457/696	1719770	2,12908	2184	4271	6455	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719770C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1371C>T	X.37:g.1719770C>T						SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.G457G	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1567	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	457					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.1371C>T	CCDS14116.1																																																																																				0.701	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088	
CITED1	4435	broad.mit.edu	37	X	71522708	71522708	+	Silent	SNP	C	C	T	rs146201846	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:71522708C>T	ENST00000246139.5	-	2	587	c.12G>A	c.(10-12)acG>acA	p.T4T	CITED1_ENST00000445983.1_Silent_p.T4T|CITED1_ENST00000431381.1_Silent_p.T30T|CITED1_ENST00000373619.3_Silent_p.T4T	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	4					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					CAGGCCTCGACGTTGTTGGCA	0.512																																						uc011mqd.1																			0					0						c.(10-12)ACG>ACA		melanocyte-specific gene 1 isoform 1		C	,,,	3,3832		0,3,1629,571	120.0	85.0	97.0		90,12,12,12	3.3	1.0	X	dbSNP_134	97	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CITED1	NM_001144885.1,NM_001144886.1,NM_001144887.1,NM_004143.3	,,,	0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284	,,,	30/220,4/194,4/194,4/194	71522708	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	4435				apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chrX:71522708C>T	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.12G>A	X.37:g.71522708C>T						CITED1_uc011mqc.1_Silent_p.T30T|CITED1_uc004eas.2_Silent_p.T4T|CITED1_uc004eat.2_Silent_p.T4T	p.T4T	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN			2	167	-	Renal(35;0.156)		4					B5BU50|B5BUI2	Silent	SNP	ENST00000246139.5	37	c.12G>A	CCDS14419.1	.	.	.	.	.	.	.	.	.	.	C	7.295	0.611772	0.14066	7.82E-4	0.0	ENSG00000125931	ENST00000429794	.	.	.	4.13	3.26	0.37387	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	-4.4949	8.3659	0.32387	0.2332:0.7668:0.0:0.0	.	.	.	.	H	4	.	.	R	-	2	0	CITED1	71439433	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.630000	0.37081	1.098000	0.41479	-0.307000	0.09154	CGT		0.512	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057181.1	NM_004143	
CHRDL1	91851	broad.mit.edu	37	X	109922648	109922648	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:109922648G>C	ENST00000372045.1	-	11	1269	c.1138C>G	c.(1138-1140)Ctc>Gtc	p.L380V	CHRDL1_ENST00000394797.4_Missense_Mutation_p.L386V|CHRDL1_ENST00000218054.4_Missense_Mutation_p.L386V|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L387V|CHRDL1_ENST00000372042.1_Missense_Mutation_p.L388V|CHRDL1_ENST00000482160.1_Missense_Mutation_p.L308V|CHRDL1_ENST00000434224.1_Missense_Mutation_p.L307V			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453																																						uc004eou.3																			0					0						c.(1162-1164)CTC>GTC		chordin-like 1 isoform 1 precursor							120.0	94.0	103.0					X																	109922648		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109922648G>C	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1138C>G	X.37:g.109922648G>C	ENSP00000361115:p.Leu380Val					CHRDL1_uc004eov.2_Missense_Mutation_p.L377V|CHRDL1_uc004eow.2_Missense_Mutation_p.L386V|CHRDL1_uc010nps.2_Missense_Mutation_p.L387V|CHRDL1_uc004eot.2_Missense_Mutation_p.L307V|CHRDL1_uc011mss.1_Missense_Mutation_p.L302V	p.L388V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			11	1511	-			380					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1162C>G		.	.	.	.	.	.	.	.	.	.	G	11.15	1.552863	0.27739	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.38240	1.92;1.15;1.91;1.91;2.17;1.16;1.91	5.04	3.26	0.37387	.	0.000000	0.64402	D	0.000001	T	0.42291	0.1196	L	0.27053	0.805	0.45621	D	0.998551	D;D;D;D;D;D	0.63880	0.986;0.993;0.993;0.993;0.993;0.993	D;D;D;D;D;D	0.70016	0.965;0.967;0.967;0.967;0.967;0.952	T	0.10543	-1.0625	9	.	.	.	-5.765	11.1547	0.48480	0.1573:0.0:0.8427:0.0	.	308;387;367;380;388;307	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	V	380;307;386;386;388;308;387	ENSP00000361115:L380V;ENSP00000389627:L307V;ENSP00000218054:L386V;ENSP00000378276:L386V;ENSP00000361112:L388V;ENSP00000418443:L308V;ENSP00000399739:L387V	.	L	-	1	0	CHRDL1	109809304	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	3.747000	0.55134	0.590000	0.29694	-0.191000	0.12829	CTC		0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
