#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FGFBP1	9982	broad.mit.edu	37	4	15938242	15938242	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:15938242C>T	ENST00000382333.1	-	3	308	c.14G>A	c.(13-15)aGc>aAc	p.S5N	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	5					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CAGGGTGAGGCTACAGATCTT	0.537																																						ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(13-15)aGc>aAc		fibroblast growth factor binding protein 1							45.0	46.0	45.0					4																	15938242		2076	4073	6149	SO:0001583	missense	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938242C>T	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.14G>A	4.37:g.15938242C>T	ENSP00000371770:p.Ser5Asn					FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	308	-			5					A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	c.14G>A	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612343	0.28712	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.18502	2.21;2.21	5.77	4.06	0.47325	.	0.781971	0.12707	N	0.445840	T	0.15349	0.0370	L	0.40543	1.245	0.19300	N	0.999974	B	0.09022	0.002	B	0.10450	0.005	T	0.19679	-1.0298	10	0.41790	T	0.15	-0.2955	9.3862	0.38345	0.0:0.7709:0.0:0.2291	.	5	Q14512	FGFP1_HUMAN	N	5	ENSP00000371770:S5N;ENSP00000259988:S5N	ENSP00000259988:S5N	S	-	2	0	FGFBP1	15547340	0.940000	0.31905	0.488000	0.27440	0.730000	0.41778	2.238000	0.43070	0.801000	0.34066	-0.148000	0.13756	AGC		0.537	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		26	42	0	0	0	1	0	26	42				
MYH11	4629	broad.mit.edu	37	16	15813153	15813153	+	Missense_Mutation	SNP	C	C	T	rs200410021		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:15813153C>T	ENST00000300036.5	-	36	5204	c.5095G>A	c.(5095-5097)Gct>Act	p.A1699T	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1706T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T|MYH11_ENST00000576790.2_Missense_Mutation_p.A1699T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1699					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCTCTCAGCGGCGGCGAGG	0.602			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5095-5097)Gct>Act		myosin, heavy chain 11, smooth muscle		C	THR/ALA,THR/ALA,,THR/ALA,,THR/ALA	0,4394		0,0,2197	48.0	43.0	45.0		5116,5116,,5095,,5095	5.6	0.9	16		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,intron,missense	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	58,58,,58,,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign,,benign	1706/1946,1706/1980,,1699/1973,,1699/1939	15813153	1,12993	2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813153C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5095G>A	16.37:g.15813153C>T	ENSP00000300036:p.Ala1699Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A1699T|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1706T|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.A1699T|NDE1_ENST00000396354.1_Intron	p.A1699T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			36	5201	-			1699					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5095G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263530	0.59431	0.0	1.16E-4	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.56	5.56	0.83823	Myosin tail (1);	0.126644	0.52532	D	0.000063	T	0.72890	0.3517	L	0.41632	1.29	0.80722	D	1	P;P;P;P;P	0.44006	0.535;0.824;0.824;0.535;0.824	B;B;B;B;B	0.41466	0.229;0.358;0.358;0.229;0.358	T	0.71556	-0.4557	10	0.02654	T	1	.	18.0883	0.89464	0.0:1.0:0.0:0.0	.	1706;1699;1706;1699;1706	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	1699;1699;1706;1706;1706	ENSP00000300036:A1699T;ENSP00000345136:A1699T;ENSP00000379616:A1706T;ENSP00000407821:A1706T	ENSP00000300036:A1699T	A	-	1	0	MYH11	15720654	1.000000	0.71417	0.900000	0.35374	0.060000	0.15804	5.752000	0.68728	2.608000	0.88229	0.655000	0.94253	GCT		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		3	27	0	0	0	1	0	3	27				
PRDM15	63977	broad.mit.edu	37	21	43274913	43274913	+	Silent	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr21:43274913G>A	ENST00000269844.3	-	12	1508	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	PRDM15_ENST00000398548.1_Silent_p.D137D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000422911.1_Silent_p.D137D|PRDM15_ENST00000538201.1_Silent_p.D100D	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	466	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGGGGTGCCCGTCCTTCTGGA	0.622																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(409-411)gaC>gaT		PR domain containing 15							36.0	33.0	34.0					21																	43274913		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43274913G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1398C>T	21.37:g.43274913G>A						PRDM15_ENST00000269844.3_Silent_p.D466D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000538201.1_Silent_p.D100D|PRDM15_ENST00000398548.1_Silent_p.D137D	p.D137D			P57071	PRD15_HUMAN			5	512	-			466					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.411C>T	CCDS13676.1																																																																																				0.622	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		13	42	0	0	0	1	0	13	42				
GDPGP1	390637	broad.mit.edu	37	15	90784327	90784327	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:90784327C>G	ENST00000558017.1	+	4	607	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	GDPGP1_ENST00000329600.6_Missense_Mutation_p.L63V	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	63					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										TGATGCTGCACTCTGCTCTGC	0.572																																						ENST00000558017.1																			0											c.(187-189)Ctc>Gtc		GDP-D-glucose phosphorylase 1							121.0	122.0	122.0					15																	90784327		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784327C>G		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.187C>G	15.37:g.90784327C>G	ENSP00000452793:p.Leu63Val					GDPGP1_ENST00000329600.6_Missense_Mutation_p.L63V	p.L63V	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	607	+			63						Missense_Mutation	SNP	ENST00000558017.1	37	c.187C>G	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136439	0.21123	.	.	ENSG00000183208	ENST00000329600	T	0.39997	1.05	6.03	3.09	0.35607	.	0.156254	0.42682	D	0.000669	T	0.42675	0.1213	M	0.69523	2.12	0.26236	N	0.97894	P	0.34562	0.457	B	0.35510	0.204	T	0.35624	-0.9781	10	0.54805	T	0.06	-9.8625	11.5232	0.50565	0.127:0.6068:0.2662:0.0	.	63	Q6ZNW5	VTC2_HUMAN	V	63	ENSP00000368405:L63V	ENSP00000368405:L63V	L	+	1	0	C15orf58	88585331	0.531000	0.26338	0.041000	0.18516	0.411000	0.31082	1.118000	0.31246	0.408000	0.25621	0.557000	0.71058	CTC		0.572	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		38	117	0	0	0	1	0	38	117				
THBS2	7058	broad.mit.edu	37	6	169648831	169648831	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:169648831C>T	ENST00000366787.3	-	4	539	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	97	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGCGTGCCCCTGGACTTGCC	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(289-291)aGg>aAg		thrombospondin 2							112.0	100.0	104.0					6																	169648831		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648831C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.290G>A	6.37:g.169648831C>T	ENSP00000355751:p.Arg97Lys						p.R97K	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	539	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	97			Heparin-binding (Potential).|TSP N-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.290G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041551	0.55003	.	.	ENSG00000186340	ENST00000366787	T	0.02177	4.41	4.55	1.78	0.24846	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37304	U	0.002152	T	0.04907	0.0132	M	0.80982	2.52	0.29223	N	0.873804	D	0.67145	0.996	D	0.75484	0.986	T	0.07385	-1.0775	10	0.66056	D	0.02	-29.2996	9.7295	0.40352	0.0:0.7713:0.0:0.2287	.	97	P35442	TSP2_HUMAN	K	97	ENSP00000355751:R97K	ENSP00000355751:R97K	R	-	2	0	THBS2	169390756	1.000000	0.71417	0.419000	0.26584	0.024000	0.10985	4.520000	0.60524	0.131000	0.18576	0.563000	0.77884	AGG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	81	0	0	0	1	0	21	81				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	33	0	0	0	1	0	3	33				
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:159656578G>A	ENST00000402432.3	+	1	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000393980.4_Missense_Mutation_p.G54D	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537																																					Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			2	Substitution - Missense(2)	p.G54D(1)|p.G5D(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(160-162)gGc>gAc		fatty acid binding protein 6, ileal							173.0	162.0	166.0					5																	159656578		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656578G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.14G>A	5.37:g.159656578G>A	ENSP00000385433:p.Gly5Asp					FABP6_ENST00000402432.3_Missense_Mutation_p.G5D|FABP6_ENST00000393982.1_Missense_Mutation_p.G54D	p.G54D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	307	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.161G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429828	0.83776	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89944	0.4075	10	0.87932	D	0	-13.8827	16.6824	0.85296	0.0:0.0:1.0:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	D	54;54;5	ENSP00000377549:G54D;ENSP00000377551:G54D;ENSP00000385433:G5D	ENSP00000377549:G54D	G	+	2	0	FABP6	159589156	1.000000	0.71417	0.910000	0.35882	0.821000	0.46438	7.492000	0.81482	2.520000	0.84964	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		4	175	0	0	0	1	0	4	175				
SERPINA11	256394	broad.mit.edu	37	14	94914772	94914772	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94914772C>T	ENST00000334708.3	-	2	404	c.340G>A	c.(340-342)Gac>Aac	p.D114N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	114					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGGTGGATGTCGGCTTCAGGG	0.592																																						ENST00000334708.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(340-342)Gac>Aac		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11							87.0	92.0	91.0					14																	94914772		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914772C>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.340G>A	14.37:g.94914772C>T	ENSP00000335024:p.Asp114Asn					RP11-349I1.2_ENST00000536735.1_RNA	p.D114N	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	404	-			114					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.340G>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735395	0.30774	.	.	ENSG00000186910	ENST00000334708	D	0.84800	-1.9	5.04	2.25	0.28309	Serpin domain (3);	0.357928	0.26190	N	0.025814	D	0.88511	0.6456	L	0.49256	1.55	0.27437	N	0.953841	D	0.76494	0.999	D	0.70935	0.971	T	0.82289	-0.0531	10	0.40728	T	0.16	.	13.2805	0.60212	0.0:0.7974:0.0:0.2026	.	114	Q86U17	SPA11_HUMAN	N	114	ENSP00000335024:D114N	ENSP00000335024:D114N	D	-	1	0	SERPINA11	93984525	0.936000	0.31750	0.479000	0.27329	0.063000	0.16089	1.713000	0.37951	0.308000	0.22923	-0.907000	0.02831	GAC		0.592	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		4	175	0	0	0	1	0	4	175				
ATP9A	10079	broad.mit.edu	37	20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:50346470C>T	ENST00000338821.5	-	2	380	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAGACAGTGCGGGGCCTGGC	0.587																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(115-117)cGc>cAc		ATPase, class II, type 9A							103.0	96.0	98.0					20																	50346470		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50346470C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.116G>A	20.37:g.50346470C>T	ENSP00000342481:p.Arg39His					ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H|ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H	p.R39H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			2	380	-			39					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.116G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433866	0.96150	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.62639	0.01;0.01;0.01	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.87758	2.905	0.35640	D	0.810913	P;D	0.89917	0.944;1.0	P;D	0.91635	0.815;0.999	D	0.88486	0.3072	10	0.87932	D	0	-29.3837	19.2362	0.93861	0.0:1.0:0.0:0.0	.	39;39	O75110-2;O75110	.;ATP9A_HUMAN	H	24;39;39	ENSP00000309086:R24H;ENSP00000342481:R39H;ENSP00000385875:R39H	ENSP00000309086:R24H	R	-	2	0	ATP9A	49779877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.257000	0.78362	2.608000	0.88229	0.563000	0.77884	CGC		0.587	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		4	145	0	0	0	1	0	4	145				
PCED1B	91523	broad.mit.edu	37	12	47472572	47472572	+	5'Flank	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:47472572T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.R72G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										AGGTCCAGTCTCTTAATCAGT	0.478																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(214-216)Aga>Gga		adhesion molecule with Ig-like domain 2							84.0	86.0	85.0					12																	47472572		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472572T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472572T>C	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G	p.R72G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	680	-	Renal(347;0.138)|Lung SC(27;0.192)		72					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.214A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194654	0.58017	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	4.75	4.75	0.60458	Leucine-rich repeat-containing N-terminal (1);	0.164395	0.46145	D	0.000319	T	0.05686	0.0149	L	0.41632	1.29	0.46901	D	0.999247	P	0.49185	0.92	P	0.50860	0.652	T	0.55617	-0.8113	10	0.27082	T	0.32	-13.4076	14.15	0.65378	0.0:0.0:0.0:1.0	.	72	Q86SJ2	AMGO2_HUMAN	G	72	ENSP00000266581:R72G;ENSP00000449034:R72G;ENSP00000406020:R72G;ENSP00000320848:R72G	ENSP00000266581:R72G	R	-	1	2	AMIGO2	45758839	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	3.208000	0.51114	2.086000	0.62901	0.533000	0.62120	AGA		0.478	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		22	80	0	0	0	1	0	22	80				
PCDHGA3	56112	broad.mit.edu	37	5	140725644	140725644	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140725644G>A	ENST00000253812.6	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCAAACCCAA	0.687																																						ENST00000253812.6																			0				breast(1)	1						c.(2044-2046)Gcc>Acc									30.0	36.0	34.0					5																	140725644		2202	4270	6472	SO:0001583	missense	0							g.chr5:140725644G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2044G>A	5.37:g.140725644G>A	ENSP00000253812:p.Ala682Thr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A682T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2044	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2044G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.35	1.612811	0.28712	.	.	ENSG00000254245	ENST00000253812	T	0.48201	0.82	4.95	-5.48	0.02592	Cadherin (1);	604.706000	0.01741	U	0.029415	T	0.27419	0.0673	N	0.22421	0.69	0.09310	N	1	B;B	0.20887	0.049;0.008	B;B	0.15870	0.014;0.009	T	0.09250	-1.0683	10	0.13853	T	0.58	.	4.7376	0.12995	0.1151:0.3996:0.3219:0.1634	.	682;682	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	682	ENSP00000253812:A682T	ENSP00000253812:A682T	A	+	1	0	PCDHGA3	140705828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.993000	0.03467	0.563000	0.77884	GCC		0.687	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		4	123	0	0	0	1	0	4	123				
DLGAP1	9229	broad.mit.edu	37	18	3499331	3499331	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:3499331C>T	ENST00000315677.3	-	13	3381	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	929					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGCTCCCGGATCAGCGG	0.677																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2785-2787)cGg>cAg		discs, large (Drosophila) homolog-associated protein 1							3.0	4.0	4.0					18																	3499331		1967	3888	5855	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3499331C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2786G>A	18.37:g.3499331C>T	ENSP00000316377:p.Arg929Gln					DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q	p.R929Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			13	3381	-		Colorectal(8;0.0257)	929					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2786G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182808	0.94885	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.3	5.3	0.74995	.	0.110327	0.64402	D	0.000017	T	0.57198	0.2037	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.994;0.998;0.994;0.994;0.989	T	0.63519	-0.6619	10	0.87932	D	0	-21.0737	18.9552	0.92655	0.0:1.0:0.0:0.0	.	613;625;635;637;929;627	B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490;O14490-2	.;.;.;.;DLGP1_HUMAN;.	Q	929;627;645;619;635;613;637	ENSP00000316377:R929Q;ENSP00000383011:R627Q;ENSP00000383014:R645Q;ENSP00000383013:R619Q;ENSP00000383019:R635Q;ENSP00000437817:R613Q;ENSP00000446312:R637Q	ENSP00000316377:R929Q	R	-	2	0	DLGAP1	3489331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.788000	0.62439	2.483000	0.83821	0.557000	0.71058	CGG		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			3	3	0	0	0	1	0	3	3				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	132	0	0	0	1	0	6	132				
PCDHB15	56121	broad.mit.edu	37	5	140626622	140626622	+	Silent	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140626622G>A	ENST00000231173.3	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCGGGACC	0.667																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1474-1476)ccG>ccA									68.0	82.0	77.0					5																	140626622		2203	4298	6501	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626622G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1476G>A	5.37:g.140626622G>A							p.P492P	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1476	+			492			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1476G>A	CCDS4257.1																																																																																				0.667	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		59	157	0	0	0	1	0	59	157				
SERPINA6	866	broad.mit.edu	37	14	94780585	94780585	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94780585T>C	ENST00000341584.3	-	2	547	c.401A>G	c.(400-402)gAt>gGt	p.D134G		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	134					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGCTGCCATCAAGAAACAA	0.502																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(400-402)gAt>gGt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						92.0	87.0	88.0					14																	94780585		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780585T>C	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.401A>G	14.37:g.94780585T>C	ENSP00000342850:p.Asp134Gly						p.D134G	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	547	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	134					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.401A>G	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	9.372	1.070797	0.20147	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.88818	-2.43;-1.79	4.85	2.42	0.29668	Serpin domain (3);	1.049680	0.07521	N	0.910514	D	0.87935	0.6303	M	0.71871	2.18	0.09310	N	1	B	0.17465	0.022	B	0.30855	0.121	T	0.76323	-0.3001	10	0.62326	D	0.03	.	3.6119	0.08063	0.135:0.0745:0.1326:0.658	.	134	P08185	CBG_HUMAN	G	134	ENSP00000342850:D134G;ENSP00000452018:D134G	ENSP00000342850:D134G	D	-	2	0	SERPINA6	93850338	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.314000	0.19432	0.321000	0.23259	0.533000	0.62120	GAT		0.502	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		11	61	0	0	0	1	0	11	61				
ZNF689	115509	broad.mit.edu	37	16	30616551	30616551	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:30616551G>C	ENST00000287461.3	-	3	874	c.537C>G	c.(535-537)tgC>tgG	p.C179W	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	179					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CACAGTCTGGGCAAGGGTAAG	0.612																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(535-537)tgC>tgG		zinc finger protein 689							74.0	79.0	77.0					16																	30616551		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616551G>C	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.537C>G	16.37:g.30616551G>C	ENSP00000287461:p.Cys179Trp					ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	p.C179W	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	874	-			179					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.537C>G	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.347913	0.24426	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	D	0.99974	-10.2	4.94	-0.447	0.12234	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000679	D	0.99975	0.9992	H	0.97682	4.055	0.44402	D	0.997319	D	0.89917	1.0	D	0.97110	1.0	D	0.95258	0.8366	10	0.87932	D	0	-20.3071	8.5722	0.33576	0.5211:0.0:0.4789:0.0	.	179	Q96CS4	ZN689_HUMAN	W	179	ENSP00000287461:C179W	ENSP00000287461:C179W	C	-	3	2	ZNF689	30524052	0.891000	0.30450	0.996000	0.52242	0.140000	0.21249	1.538000	0.36094	0.033000	0.15463	-0.252000	0.11476	TGC		0.612	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		21	90	0	0	0	1	0	21	90				
SHB	6461	broad.mit.edu	37	9	38016073	38016073	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr9:38016073C>G	ENST00000377707.3	-	2	1338	c.773G>C	c.(772-774)aGc>aCc	p.S258T	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T|SHB_ENST00000377700.4_Missense_Mutation_p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	258	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCCTGCTTTGCTCTTGAGATC	0.537																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(772-774)aGc>aCc		Src homology 2 domain containing adaptor protein B							174.0	171.0	172.0					9																	38016073		1997	4189	6186	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016073C>G		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.773G>C	9.37:g.38016073C>G	ENSP00000366936:p.Ser258Thr					SHB_ENST00000377700.4_Missense_Mutation_p.S258T|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T	p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1338	-		all_epithelial(88;0.122)	258			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.773G>C	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708620	0.30322	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.29142	1.58	5.86	-1.34	0.09143	.	0.327366	0.25575	N	0.029726	T	0.10508	0.0257	N	0.08118	0	0.26397	N	0.976482	B	0.19200	0.034	B	0.16722	0.016	T	0.33420	-0.9869	10	0.08179	T	0.78	-11.1166	6.1582	0.20350	0.1472:0.2289:0.0:0.6239	.	258	Q15464	SHB_HUMAN	T	258	ENSP00000366936:S258T	ENSP00000366929:S258T	S	-	2	0	SHB	38006073	0.217000	0.23597	0.995000	0.50966	0.972000	0.66771	-0.874000	0.04210	-0.125000	0.11703	-0.140000	0.14226	AGC		0.537	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			34	121	0	0	0	1	0	34	121				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	42	0	0	0	1	0	23	42				
PTPRM	5797	broad.mit.edu	37	18	8379324	8379324	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:8379324G>A	ENST00000332175.8	+	26	4770	c.3733G>A	c.(3733-3735)Gct>Act	p.A1245T	PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1245	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTACATCAATGCTGCCCTCAT	0.607																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3733-3735)Gct>Act		protein tyrosine phosphatase, receptor type, M							100.0	76.0	84.0					18																	8379324		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8379324G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3733G>A	18.37:g.8379324G>A	ENSP00000331418:p.Ala1245Thr					PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T	p.A1245T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			26	4770	+		Colorectal(10;0.234)	1245			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3733G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	36	5.820734	0.96989	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.997;0.995	D	0.91761	0.5420	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1032;1258;1245	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	1245;1259;1183;1032	ENSP00000331418:A1245T;ENSP00000382933:A1259T;ENSP00000382927:A1183T;ENSP00000387608:A1032T	ENSP00000331418:A1245T	A	+	1	0	PTPRM	8369324	1.000000	0.71417	0.334000	0.25495	0.889000	0.51656	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.607	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			26	41	0	0	0	1	0	26	41				
ABCC10	89845	broad.mit.edu	37	6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:43403589G>A	ENST00000372530.4	+	5	1924	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTTGGACCGGATCCAGCTT	0.567																																						ENST00000244533.3																			2	Substitution - Missense(2)	p.R527Q(2)	prostate(1)|lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1579-1581)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							113.0	102.0	106.0					6																	43403589		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403589G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1709G>A	6.37:g.43403589G>A	ENSP00000361608:p.Arg570Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	p.R527Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1939	+	all_lung(25;0.00536)		570			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1580G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126887	0.94429	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97161	-4.27;-3.92;-3.92	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	126;570;527	ENSP00000361593:R126Q;ENSP00000361608:R570Q;ENSP00000244533:R527Q	ENSP00000244533:R527Q	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		21	76	0	0	0	1	0	21	76				
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A	rs542617314	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AACGTCTTGGCGGCAGGCGCC	0.478																																						ENST00000434078.2																			0																																																			0							g.chr8:11986016C>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986016C>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.478	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	20	1	0	0.00024832	1	0.00024832	4	20				
KIF16B	55614	broad.mit.edu	37	20	16359697	16359697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:16359697C>A	ENST00000354981.2	-	19	3107	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	984	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E984K(2)|p.E984*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCACTTTTTCCTCCTGACGT	0.512																																						ENST00000354981.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.E984K(2)|p.E984*(1)	lung(2)|prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2950-2952)Gaa>Taa		kinesin family member 16B							157.0	156.0	156.0					20																	16359697		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359697C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2950G>T	20.37:g.16359697C>A	ENSP00000347076:p.Glu984*					KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*	p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3107	-			984			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2950G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	54	21.629552	0.99942	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.6844	0.95976	0.0:1.0:0.0:0.0	.	.	.	.	X	984;984;828;210;984	.	ENSP00000347076:E984X	E	-	1	0	KIF16B	16307697	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.724000	0.68500	2.761000	0.94854	0.655000	0.94253	GAA		0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		61	110	1	0	2.14255e-21	1	2.24706e-21	61	110				
SPEN	23013	broad.mit.edu	37	1	16262471	16262471	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:16262471A>C	ENST00000375759.3	+	11	9940	c.9736A>C	c.(9736-9738)Acc>Ccc	p.T3246P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3246	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccccacccccacccctgcccc	0.662																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9736-9738)Acc>Ccc		spen family transcriptional repressor																																				SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262471A>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9736A>C	1.37:g.16262471A>C	ENSP00000364912:p.Thr3246Pro						p.T3246P	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9940	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3246			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9736A>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.376361	0.00207	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	1.72	-0.922	0.10468	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	9	0.30078	T	0.28	.	5.1828	0.15169	0.5273:0.0:0.4727:0.0	.	3246	Q96T58	MINT_HUMAN	P	3246	ENSP00000364912:T3246P	ENSP00000364912:T3246P	T	+	1	0	SPEN	16135058	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.804000	0.27098	-0.457000	0.07033	-1.751000	0.00678	ACC		0.662	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	10	0	0	0	1	0	4	10				
FGD5	152273	broad.mit.edu	37	3	14965518	14965518	+	Missense_Mutation	SNP	G	G	A	rs369779761		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr3:14965518G>A	ENST00000285046.5	+	17	4051	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1314					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTTACAGAGCGGCCTGTGAGC	0.537																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3940-3942)cGg>cAg		FYVE, RhoGEF and PH domain containing 5		G	GLN/ARG	1,4127		0,1,2063	55.0	59.0	58.0		3941	4.9	1.0	3		58	0,8408		0,0,4204	no	missense	FGD5	NM_152536.3	43	0,1,6267	AA,AG,GG		0.0,0.0242,0.0080	probably-damaging	1314/1463	14965518	1,12535	2064	4204	6268	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14965518G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3941G>A	3.37:g.14965518G>A	ENSP00000285046:p.Arg1314Gln					FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	p.R1314Q	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			17	4051	+			1314					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3941G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642420	0.67244	2.42E-4	0.0	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.12465	2.68;2.68	4.9	4.9	0.64082	.	0.000000	0.47852	D	0.000212	T	0.32496	0.0831	M	0.70595	2.14	0.45087	D	0.998103	D;D	0.89917	1.0;1.0	D;D	0.66084	0.915;0.941	T	0.02081	-1.1217	10	0.32370	T	0.25	-21.2204	13.0936	0.59178	0.0:0.0:0.8394:0.1606	.	1073;1314	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	Q	1314;1073	ENSP00000285046:R1314Q;ENSP00000445949:R1073Q	ENSP00000285046:R1314Q	R	+	2	0	FGD5	14940522	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.510000	0.53393	2.260000	0.74910	0.305000	0.20034	CGG		0.537	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		20	35	0	0	0	1	0	20	35				
KLHL25	64410	broad.mit.edu	37	15	86312002	86312002	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:86312002C>T	ENST00000337975.5	-	2	1314	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	347					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGAGCCCCTGCCCCCCGTCAC	0.637																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1039-1041)gGc>gAc		kelch-like family member 25							35.0	31.0	32.0					15																	86312002		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312002C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1040G>A	15.37:g.86312002C>T	ENSP00000336800:p.Gly347Asp					KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D|KLHL25_ENST00000559131.1_Intron	p.G347D	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	1314	-			347					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1040G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024836	0.75390	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	D;D	0.99494	-6.01;-6.01	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97394	0.9991	10	0.87932	D	0	.	18.1417	0.89642	0.0:1.0:0.0:0.0	.	347	Q9H0H3	ENC2_HUMAN	D	347;316;347	ENSP00000336800:G347D;ENSP00000444739:G347D	ENSP00000336800:G347D	G	-	2	0	KLHL25	84113006	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.818000	0.86416	2.537000	0.85549	0.462000	0.41574	GGC		0.637	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		3	37	0	0	0	1	0	3	37				
ECM1	1893	broad.mit.edu	37	1	150482462	150482462	+	Silent	SNP	C	C	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:150482462C>A	ENST00000369047.4	+	4	413	c.288C>A	c.(286-288)ctC>ctA	p.L96L	ECM1_ENST00000369049.4_Silent_p.L123L|ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	96					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCCCAACTCCCTGCTGAAA	0.592																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(286-288)ctC>ctA		extracellular matrix protein 1							98.0	97.0	97.0					1																	150482462		2203	4300	6503	SO:0001819	synonymous_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482462C>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.288C>A	1.37:g.150482462C>A						ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000369049.4_Silent_p.L123L	p.L96L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		4	413	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		96					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	c.288C>A	CCDS953.1																																																																																				0.592	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		28	87	1	0	1.16021e-09	1	1.18783e-09	28	87				
DKC1	1736	broad.mit.edu	37	X	153994501	153994501	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chrX:153994501A>C	ENST00000369550.5	+	5	484	c.274A>C	c.(274-276)Att>Ctt	p.I92L	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	92					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAGGTTTCATTAATCTTGA	0.413									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(274-276)Att>Ctt		dyskeratosis congenita 1, dyskerin							88.0	87.0	88.0					X																	153994501		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994501A>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.274A>C	X.37:g.153994501A>C	ENSP00000358563:p.Ile92Leu						p.I92L	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	484	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		92					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.274A>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.74|19.74	3.883067|3.883067	0.72410|0.72410	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.94138	.|-3.36;-3.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Dyskerin-like (1);Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93802|0.93802	0.8018|0.8018	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.18310	.|0.012;0.027	.|B;B	.|0.29716	.|0.106;0.106	D|D	0.91625|0.91625	0.5314|0.5314	5|10	.|0.62326	.|D	.|0.03	-22.2182|-22.2182	14.088|14.088	0.64971|0.64971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|92;92	.|A8MUT5;O60832	.|.;DKC1_HUMAN	P|L	77|92	.|ENSP00000358563:I92L;ENSP00000400542:I92L	.|ENSP00000358563:I92L	H|I	+|+	2|1	0|0	DKC1|DKC1	153647695|153647695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.806000|8.806000	0.91930|0.91930	2.008000|2.008000	0.58898|0.58898	0.417000|0.417000	0.27973|0.27973	CAT|ATT		0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		4	107	0	0	0	1	0	4	107				
ATP2A3	489	broad.mit.edu	37	17	3844416	3844416	+	Missense_Mutation	SNP	C	C	T	rs539151467	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:3844416C>T	ENST00000352011.3	-	14	2003	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	650					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTAGGCCTTGCCCGCCACGTC	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1948-1950)gGc>gAc		ATPase, Ca++ transporting, ubiquitous							49.0	44.0	46.0					17																	3844416		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844416C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1949G>A	17.37:g.3844416C>T	ENSP00000301387:p.Gly650Asp					ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR	p.G650D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2099	-			650					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1949G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750072	0.49257	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64;-5.64;-5.64	4.16	4.16	0.48862	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.183599	0.48767	D	0.000169	D	0.97604	0.9215	L	0.50919	1.6	0.58432	D	0.999999	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.002;0.001	B;B;B;B;B;B	0.17433	0.004;0.011;0.018;0.011;0.018;0.011	D	0.95444	0.8528	10	0.45353	T	0.12	.	10.3227	0.43775	0.0:0.9083:0.0:0.0917	.	650;650;650;650;650;650	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	650	ENSP00000380236:G650D;ENSP00000301387:G650D;ENSP00000353072:G650D;ENSP00000380234:G650D;ENSP00000312577:G650D;ENSP00000380229:G650D	ENSP00000312577:G650D	G	-	2	0	ATP2A3	3791165	0.564000	0.26602	0.995000	0.50966	0.981000	0.71138	0.431000	0.21444	2.607000	0.88179	0.561000	0.74099	GGC		0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		4	76	0	0	0	1	0	4	76				
KRT71	112802	broad.mit.edu	37	12	52940220	52940220	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:52940220G>A	ENST00000267119.5	-	7	1244	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	392	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTCCAGCTTGGCCCGGGCATC	0.622																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1174-1176)gCc>gTc		keratin 71							62.0	57.0	59.0					12																	52940220		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52940220G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1175C>T	12.37:g.52940220G>A	ENSP00000267119:p.Ala392Val						p.A392V	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	7	1244	-			392			Coil 2.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.1175C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318305	0.40996	.	.	ENSG00000139648	ENST00000267119	D	0.89343	-2.5	4.34	4.34	0.51931	Filament (1);	0.181627	0.25750	N	0.028559	D	0.90256	0.6953	M	0.82823	2.61	0.31076	N	0.712412	B	0.25563	0.129	B	0.37387	0.248	D	0.89303	0.3627	10	0.54805	T	0.06	.	9.7271	0.40339	0.0:0.1397:0.6974:0.163	.	392	Q3SY84	K2C71_HUMAN	V	392	ENSP00000267119:A392V	ENSP00000267119:A392V	A	-	2	0	KRT71	51226487	0.386000	0.25180	1.000000	0.80357	0.515000	0.34225	0.415000	0.21181	2.372000	0.80975	0.561000	0.74099	GCC		0.622	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		19	50	0	0	0	1	0	19	50				
CDH22	64405	broad.mit.edu	37	20	44803600	44803600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:44803600G>A	ENST00000372262.3	-	11	2432	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	678					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGTGTCCTGCTCGCCGCCG	0.677																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(2032-2034)Cag>Tag		cadherin 22, type 2							34.0	35.0	34.0					20																	44803600		2148	4256	6404	SO:0001587	stop_gained	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803600G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2032C>T	20.37:g.44803600G>A	ENSP00000361336:p.Gln678*					CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2432	-		Myeloproliferative disorder(115;0.0122)	678					B9EGK7|O43205	Nonsense_Mutation	SNP	ENST00000372262.3	37	c.2032C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	41	8.788506	0.98954	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	.	.	.	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9004	0.70675	0.0:0.0:1.0:0.0	.	.	.	.	X	678	.	ENSP00000361336:Q678X	Q	-	1	0	CDH22	44237007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.862000	0.39448	2.082000	0.62665	0.563000	0.77884	CAG		0.677	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		13	33	0	0	0	1	0	13	33				
MYH2	4620	broad.mit.edu	37	17	10428846	10428846	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:10428846G>C	ENST00000245503.5	-	32	4843	c.4459C>G	c.(4459-4461)Ctg>Gtg	p.L1487V	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTTGAACAGCTCAGTGCCA	0.458																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4459-4461)Ctg>Gtg		myosin, heavy chain 2, skeletal muscle, adult							75.0	79.0	77.0					17																	10428846		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428846G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4459C>G	17.37:g.10428846G>C	ENSP00000245503:p.Leu1487Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	p.L1487V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			32	4843	-			1487					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4459C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514004	0.44763	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84660	-1.88;-1.88	5.2	3.22	0.36961	Myosin tail (1);	0.000000	0.32314	U	0.006279	T	0.80454	0.4626	L	0.56340	1.77	0.43372	D	0.995469	B	0.06786	0.001	B	0.20384	0.029	T	0.74578	-0.3619	10	0.46703	T	0.11	.	8.9783	0.35950	0.2253:0.0:0.7747:0.0	.	1487	Q9UKX2	MYH2_HUMAN	V	1487	ENSP00000245503:L1487V;ENSP00000380367:L1487V	ENSP00000245503:L1487V	L	-	1	2	MYH2	10369571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.941000	0.56607	0.771000	0.33359	0.591000	0.81541	CTG		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		17	61	0	0	0	1	0	17	61				
ZFP69B	65243	broad.mit.edu	37	1	40929203	40929203	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:40929203C>T	ENST00000411995.2	+	6	1922	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	516					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCTGTAGTTCATCCCTTATT	0.353																																						ENST00000411995.2																			0											c.(1546-1548)tCa>tTa		ZFP69 zinc finger protein B							52.0	54.0	54.0					1																	40929203		2203	4298	6501	SO:0001583	missense	65243							g.chr1:40929203C>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1547C>T	1.37:g.40929203C>T	ENSP00000399664:p.Ser516Leu					ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|ZFP69B_ENST00000484445.1_3'UTR	p.S516L	NM_023070.2	NP_075558.2					6	1922	+								Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1547C>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	16.65	3.183588	0.57800	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.62364	0.03;0.03	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67674	0.2918	L	0.52266	1.64	0.22171	N	0.999316	D	0.63046	0.992	P	0.58721	0.844	T	0.56517	-0.7966	9	0.87932	D	0	.	8.7928	0.34861	0.0:0.7678:0.2322:0.0	.	516	Q9UJL9	ZN643_HUMAN	L	447;516;414	ENSP00000399664:S516L;ENSP00000354547:S414L	ENSP00000354547:S414L	S	+	2	0	ZNF643	40701790	.	.	0.999000	0.59377	0.993000	0.82548	.	.	2.158000	0.67659	0.655000	0.94253	TCA		0.353	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		17	66	0	0	0	1	0	17	66				
AP3M1	26985	broad.mit.edu	37	10	75893895	75893895	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr10:75893895G>A	ENST00000355264.4	-	4	784	c.473C>T	c.(472-474)cCc>cTc	p.P158L	AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	158					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CTGCCCGGTGGGGAGTGTGTC	0.408																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(472-474)cCc>cTc		adaptor-related protein complex 3, mu 1 subunit							77.0	69.0	71.0					10																	75893895		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75893895G>A	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.473C>T	10.37:g.75893895G>A	ENSP00000347408:p.Pro158Leu					AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			4	784	-	Prostate(51;0.0112)		158					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.473C>T	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563650	0.96527	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.79940	-1.32;-1.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93577	0.6909	10	0.87932	D	0	-13.2097	20.1338	0.98010	0.0:0.0:1.0:0.0	.	104;158	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	L	158	ENSP00000347408:P158L;ENSP00000361831:P158L	ENSP00000347408:P158L	P	-	2	0	AP3M1	75563901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	CCC		0.408	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	54	0	0	0	1	0	10	54				
MAPK8IP2	23542	broad.mit.edu	37	22	51041583	51041583	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr22:51041583C>T	ENST00000008876.5	+	1	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S	MAPK8IP2_ENST00000399908.2_5'UTR|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	0					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCCCTTCTCCTAGCACCTG	0.617																																						ENST00000008876.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(22-24)Cct>Tct		mitogen-activated protein kinase 8 interacting protein 2							38.0	41.0	40.0					22																	51041583		1985	4147	6132	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041583C>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000008876.5:c.22C>T	22.37:g.51041583C>T	ENSP00000008876:p.Pro8Ser					MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron	p.P8S			Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	22	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	422					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000008876.5	37	c.22C>T		.	.	.	.	.	.	.	.	.	.	C	10.39	1.338155	0.24253	.	.	ENSG00000008735	ENST00000008876	T	0.19394	2.15	4.84	-1.58	0.08479	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28332	-1.0047	8	0.87932	D	0	.	8.127	0.31005	0.0:0.4494:0.0:0.5506	.	8	E7EQG6	.	S	8	ENSP00000008876:P8S	ENSP00000008876:P8S	P	+	1	0	MAPK8IP2	49388449	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.520000	0.06252	-0.377000	0.07930	0.555000	0.69702	CCT		0.617	MAPK8IP2-201	KNOWN	basic	protein_coding	protein_coding		NM_012324		10	18	0	0	0	1	0	10	18				
HERC5	51191	broad.mit.edu	37	4	89407330	89407330	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:89407330T>C	ENST00000264350.3	+	14	1955	c.1802T>C	c.(1801-1803)cTc>cCc	p.L601P	HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	601					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCACCGTCTCAATTTTTTT	0.333																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(1801-1803)cTc>cCc		HECT and RLD domain containing E3 ubiquitin protein ligase 5							130.0	132.0	131.0					4																	89407330		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89407330T>C	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1802T>C	4.37:g.89407330T>C	ENSP00000264350:p.Leu601Pro					HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	p.L601P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	14	1955	+		Hepatocellular(203;0.114)	601					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1802T>C	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760967	0.49468	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.40225	1.04;1.11	3.92	3.92	0.45320	.	0.147317	0.29737	N	0.011333	T	0.41190	0.1148	M	0.70275	2.135	0.46298	D	0.99897	B	0.31100	0.308	B	0.30716	0.119	T	0.47598	-0.9105	10	0.72032	D	0.01	.	9.3429	0.38091	0.0:0.0:0.0:1.0	.	601	Q9UII4	HERC5_HUMAN	P	601;239	ENSP00000264350:L601P;ENSP00000424129:L239P	ENSP00000264350:L601P	L	+	2	0	HERC5	89626353	0.922000	0.31269	0.723000	0.30687	0.021000	0.10359	3.066000	0.50002	1.767000	0.52121	0.383000	0.25322	CTC		0.333	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		4	93	0	0	0	1	0	4	93				
LIPG	9388	broad.mit.edu	37	18	47095873	47095873	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:47095873G>A	ENST00000261292.4	+	4	804	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LIPG_ENST00000577628.1_Missense_Mutation_p.G212R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000427224.2_Missense_Mutation_p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	176					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCACGTGGCCGGGTATGCAGG	0.542																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(526-528)Ggg>Agg		lipase, endothelial							60.0	50.0	53.0					18																	47095873		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47095873G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.526G>A	18.37:g.47095873G>A	ENSP00000261292:p.Gly176Arg					LIPG_ENST00000427224.2_Missense_Mutation_p.G176R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000577628.1_Missense_Mutation_p.G212R	p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			4	804	+			176					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.526G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263463	0.80358	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.95918	-3.85;-3.85	5.02	5.02	0.67125	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99320	1.0906	10	0.87932	D	0	-22.9298	18.3522	0.90342	0.0:0.0:1.0:0.0	.	176;176;176	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	R	176	ENSP00000261292:G176R;ENSP00000387978:G176R	ENSP00000261292:G176R	G	+	1	0	LIPG	45349871	1.000000	0.71417	0.930000	0.37139	0.284000	0.27059	9.804000	0.99143	2.334000	0.79466	0.561000	0.74099	GGG		0.542	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		13	39	0	0	0	1	0	13	39				
ARID1A	8289	broad.mit.edu	37	1	27059244	27059245	+	Frame_Shift_Ins	INS	-	-	ATGA			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:27059244_27059245insATGA	ENST00000324856.7	+	4	2252_2253	c.1881_1882insATGA	c.(1882-1884)atgfs	p.-629fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-246fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-629fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.D627fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCAAGAAGATATGAACCTGAG	0.475			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Deletion - Frameshift(1)	p.D627fs*2(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1879-1884)gatgaafs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059244_27059245insATGA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1882_1885dupATGA	1.37:g.27059245_27059248dupATGA	ENSP00000320485:p.Asn629fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.DE244fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.DE627fs	p.DE627fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2252_2253	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	627					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.1881_1882insATGA	CCDS285.1																																																																																				0.475	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	122						7	122	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	5						3	5	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465														3562	0.711262	0.6044	0.7637	5008	,	,		18089	0.625		0.831	False		,,,				2504	0.7843					ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183626delTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183636delTT						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4553	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.465	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576926	7576937	+	Splice_Site	DEL	GCTAGGAAAGAG	GCTAGGAAAGAG	-	rs397516439|rs587781702|rs34361146		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:7576926_7576937delGCTAGGAAAGAG	ENST00000269305.4	-	9	1109	c.920delCTCTTTCCTAGC	c.(919-921)gct>gt	p.A307del	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site_p.A307del|TP53_ENST00000455263.2_Splice_Site_p.A307del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.A307del|TP53_ENST00000445888.2_Splice_Site_p.A307del	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	307	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (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.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)	GTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAG	0.5		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		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"""		58	Unknown(47)|Whole gene deletion(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)	lung(13)|upper_aerodigestive_tract(12)|breast(6)|ovary(6)|central_nervous_system(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|salivary_gland(1)|gastrointestinal_tract_(site_indeterminate)(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						c.e9-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576926_7576937delGCTAGGAAAGAG	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.920-1CTCTTTCCTAGC>-	17.37:g.7576926_7576937delGCTAGGAAAGAG		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_ENST00000359597.4_Splice_Site_p.307_splice|TP53_ENST00000269305.4_Splice_Site_p.307_splice|TP53_ENST00000445888.2_Splice_Site_p.307_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site_p.307_splice	p.307_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	307		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37	c.919_splice	CCDS11118.1																																																																																				0.500	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	In_Frame_Del	44	55						44	55	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766523	3766524	+	Frame_Shift_Ins	INS	-	-	T	rs369656252		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:3766523_3766524insT	ENST00000379751.4	-	1	813_814	c.607_608insA	c.(607-609)ttcfs	p.F203fs	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	203					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GTCGGGCAGGAAGTCGTACCAT	0.708																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(607-609)cctfs		centromere protein B, 80kDa																																				SO:0001589	frameshift_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766523_3766524insT	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.607_608insA	20.37:g.3766523_3766524insT	ENSP00000369075:p.Phe203fs						p.P203fs	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	813_814	-			203					Q96EI4	Frame_Shift_Ins	INS	ENST00000379751.4	37	c.607_608insA	CCDS13064.1																																																																																				0.708	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		51	101						51	101	---	---	---	---
