#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
PRKCI	5584	hgsc.bcm.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr3:170013719C>T	ENST00000295797.4	+	15	1743	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R471C(3)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAAACAAATTCGCATACCACG	0.274																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	3											61.0	66.0	64.0					3																	170013719		2202	4298	6500	171496413	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1438C>T	3.37:g.170013719C>T	ENSP00000295797:p.Arg480Cys		171496413	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726514	0.69074	.	.	ENSG00000163558	ENST00000295797	T	0.53423	0.62	5.29	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099543	0.64402	D	0.000002	T	0.63486	0.2515	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63010	-0.6732	9	.	.	.	.	15.8416	0.78848	0.1359:0.8641:0.0:0.0	.	480	P41743	KPCI_HUMAN	C	480	ENSP00000295797:R480C	.	R	+	1	0	PRKCI	171496413	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	2.225000	0.42954	2.621000	0.88768	0.655000	0.94253	CGC		0.274	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
CASP5	838	hgsc.bcm.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	11							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	104383251	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs		104383251	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
ARHGEF12	23365	hgsc.bcm.edu	37	11	120335957	120335957	+	Silent	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:120335957A>T	ENST00000397843.2	+	28	2791	c.2625A>T	c.(2623-2625)ccA>ccT	p.P875P	ARHGEF12_ENST00000356641.3_Silent_p.P856P|ARHGEF12_ENST00000532993.1_Silent_p.P772P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	875	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P875P(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGGACCAGGAGAGGAGA	0.433			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)	11											111.0	112.0	112.0					11																	120335957		1993	4182	6175	119841167	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2625A>T	11.37:g.120335957A>T			119841167	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.433	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
CLN6	54982	hgsc.bcm.edu	37	15	68506674	68506674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr15:68506674delT	ENST00000249806.5	-	3	408	c.251delA	c.(250-252)tacfs	p.Y84fs	CLN6_ENST00000538696.1_Frame_Shift_Del_p.Y116fs|CLN6_ENST00000566347.1_Frame_Shift_Del_p.Y84fs|CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000564752.1_Frame_Shift_Del_p.Y84fs|CLN6_ENST00000418702.2_Frame_Shift_Del_p.T50fs	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	84					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Y84fs*32(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CATGTGGAAGTAGTCCCCAAC	0.572																																																1	Deletion - Frameshift(1)	ovary(1)	15											224.0	168.0	187.0					15																	68506674		2200	4298	6498	66293728	SO:0001589	frameshift_variant	54982			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.251delA	15.37:g.68506674delT	ENSP00000249806:p.Tyr84fs		66293728	A8K560|B4DDH6|Q6IAB1|Q96SR0	Frame_Shift_Del	DEL	ENST00000249806.5	37	CCDS10227.1																																																																																				0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882	
CSMD1	64478	hgsc.bcm.edu	37	8	3266999	3266999	+	Frame_Shift_Del	DEL	C	C	-	rs201699633		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr8:3266999delC	ENST00000520002.1	-	14	2248	c.1693delG	c.(1693-1695)gttfs	p.V565fs	CSMD1_ENST00000539096.1_Frame_Shift_Del_p.V564fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.V565fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.V564fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.V565fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.V564fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.V565fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	565	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.V564F(1)|p.V293fs*45(1)|p.V293F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGTGATAACTCTCTCCCCC	0.552																																																3	Substitution - Missense(2)|Deletion - Frameshift(1)	lung(2)|ovary(1)	8											48.0	48.0	48.0					8																	3266999		1952	4155	6107	3254406	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1693delG	8.37:g.3266999delC	ENSP00000430733:p.Val565fs		3254406	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37																																																																																					0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
DGKK	139189	hgsc.bcm.edu	37	X	50167292	50167293	+	RNA	INS	-	-	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chrX:50167292_50167293insA	ENST00000376025.2	-	0	768_769							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AACCAGAAAATATCTAAGCTTC	0.401																																																0			X																																								50184033			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167293_50167293dupA			50184032	B2RP91	Frame_Shift_Ins	INS	ENST00000376025.2	37																																																																																					0.401	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
CLDN25	644672	hgsc.bcm.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																																1	Insertion - Frameshift(1)	ovary(1)	11																																								113155761	SO:0001589	frameshift_variant	644672				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs		113155760		Frame_Shift_Ins	INS	ENST00000453129.2	37	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
MPPE1	65258	hgsc.bcm.edu	37	18	11886921	11886921	+	Nonsense_Mutation	SNP	G	G	A	rs557109438	byFrequency	TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr18:11886921G>A	ENST00000588072.1	-	7	1894	c.673C>T	c.(673-675)Cga>Tga	p.R225*	MPPE1_ENST00000317235.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000344987.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000309976.9_Nonsense_Mutation_p.R225*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.R225*	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	225					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)	p.R225*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTACCTCTCGGGAGCAGTTC	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		19213	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - Nonsense(1)	ovary(1)	18											51.0	44.0	47.0					18																	11886921		2203	4300	6503	11876921	SO:0001587	stop_gained	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.673C>T	18.37:g.11886921G>A	ENSP00000465894:p.Arg225*		11876921	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Nonsense_Mutation	SNP	ENST00000588072.1	37	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768356	0.90020	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	.	.	.	5.2	3.21	0.36854	.	0.374298	0.26750	N	0.022690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1646	9.3267	0.37997	0.0806:0.0:0.697:0.2224	.	.	.	.	X	225;225;128;225;225	.	ENSP00000311200:R225X	R	-	1	2	MPPE1	11876921	1.000000	0.71417	0.733000	0.30861	0.098000	0.18820	3.174000	0.50847	1.185000	0.42971	-0.150000	0.13652	CGA		0.557	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075	
NCOR2	9612	hgsc.bcm.edu	37	12	124840034	124840037	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	TGAG	TGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr12:124840034_124840037delTGAG	ENST00000405201.1	-	24	3322_3325	c.3322_3325delCTCA	c.(3322-3327)ctcatcfs	p.LI1108fs	NCOR2_ENST00000397355.1_Frame_Shift_Del_p.LI1099fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.LI1098fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.LI1115fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.LI669fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.LI1098fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1116					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L1115fs*14(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGAGGAGATGAGGGGAGGCGGG	0.623																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								123405990	SO:0001589	frameshift_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3322_3325delCTCA	12.37:g.124840034_124840037delTGAG	ENSP00000384018:p.Leu1108fs		123405987	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	CCDS41858.2																																																																																				0.623	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
PREX1	57580	hgsc.bcm.edu	37	20	47351083	47351083	+	Splice_Site	SNP	C	C	G	rs370938889		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr20:47351083C>G	ENST00000371941.3	-	4	541	c.519G>C	c.(517-519)ttG>ttC	p.L173F	PREX1_ENST00000396220.1_Splice_Site_p.L173F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L173F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTCAACTTACCAAAAGGAAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											192.0	158.0	169.0					20																	47351083		2203	4300	6503	46784490	SO:0001630	splice_region_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.519+1G>C	20.37:g.47351083C>G			46784490	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302960	0.60195	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.68331	-0.32;-0.32	5.5	3.58	0.41010	Dbl homology (DH) domain (5);	0.000000	0.43110	U	0.000603	T	0.78641	0.4315	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77440	-0.2587	9	.	.	.	.	11.5602	0.50772	0.0:0.8542:0.0:0.1458	.	173	Q8TCU6	PREX1_HUMAN	F	173	ENSP00000361009:L173F;ENSP00000379522:L173F	.	L	-	3	2	PREX1	46784490	1.000000	0.71417	0.951000	0.38953	0.266000	0.26442	7.129000	0.77225	0.699000	0.31761	0.650000	0.86243	TTG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation
PSORS1C1	170679	hgsc.bcm.edu	37	6	31106500	31106501	+	Frame_Shift_Ins	INS	-	-	C	rs138474986|rs9278990|rs373492377|rs375095896|rs386698869	byFrequency	TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr6:31106500_31106501insC	ENST00000259881.9	+	5	400_401	c.111_112insC	c.(112-114)cccfs	p.P38fs	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_5'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	38								p.H40fs*3(2)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGGAAACTCGTCCCCCCCACGT	0.564																																																2	Insertion - Frameshift(2)	ovary(1)|kidney(1)	6																																								31214480	SO:0001589	frameshift_variant	170679			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.118dupC	6.37:g.31106507_31106507dupC	ENSP00000259881:p.Pro38fs		31214479	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Frame_Shift_Ins	INS	ENST00000259881.9	37	CCDS34390.1																																																																																				0.564	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
SCN5A	6331	hgsc.bcm.edu	37	3	38595909	38595909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr3:38595909delG	ENST00000333535.4	-	27	4823	c.4674delC	c.(4672-4674)aacfs	p.N1558fs	SCN5A_ENST00000449557.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.N1558fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000464652.1_5'UTR			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1558					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.N1558fs*73(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGCCAAGATGTTGATTTTCT	0.493																																																1	Deletion - Frameshift(1)	ovary(1)	3											177.0	190.0	186.0					3																	38595909		2116	4253	6369	38570913	SO:0001589	frameshift_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4674delC	3.37:g.38595909delG	ENSP00000328968:p.Asn1558fs		38570913	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	CCDS46796.1																																																																																				0.493	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125281883	125281883	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr2:125281883G>A	ENST00000431078.1	+	9	1692	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	443	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S443N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTGCAGGCAGCAACTTGAAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											71.0	75.0	74.0					2																	125281883		2073	4223	6296	124998353	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1328G>A	2.37:g.125281883G>A	ENSP00000399013:p.Ser443Asn		124998353	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779469	0.49891	.	.	ENSG00000155052	ENST00000431078	T	0.78003	-1.14	5.94	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.104145	0.42548	D	0.000690	T	0.74512	0.3726	L	0.49350	1.555	0.26194	N	0.979542	P	0.40970	0.734	B	0.43575	0.424	T	0.65100	-0.6250	10	0.18276	T	0.48	.	15.6375	0.76966	0.0:0.354:0.646:0.0	.	443	Q8WYK1	CNTP5_HUMAN	N	443	ENSP00000399013:S443N	ENSP00000399013:S443N	S	+	2	0	CNTNAP5	124998353	0.968000	0.33430	0.998000	0.56505	0.983000	0.72400	1.710000	0.37920	1.504000	0.48704	0.650000	0.86243	AGC		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CUBN	8029	hgsc.bcm.edu	37	10	16967769	16967769	+	Silent	SNP	G	G	A	rs146319349	byFrequency	TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr10:16967769G>A	ENST00000377833.4	-	42	6341	c.6276C>T	c.(6274-6276)tgC>tgT	p.C2092C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2092	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C2092C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATATCCACCGCAGCCTTCCC	0.458													G|||	18	0.00359425	0.0008	0.0101	5008	,	,		17747	0.0		0.0089	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10						G		4,4402	8.1+/-20.4	0,4,2199	64.0	54.0	57.0		6276	1.0	1.0	10	dbSNP_134	57	38,8562	25.7+/-73.6	0,38,4262	no	coding-synonymous	CUBN	NM_001081.3		0,42,6461	AA,AG,GG		0.4419,0.0908,0.3229		2092/3624	16967769	42,12964	2203	4300	6503	17007775	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6276C>T	10.37:g.16967769G>A			17007775	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
DKK2	27123	hgsc.bcm.edu	37	4	107845721	107845721	+	Silent	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr4:107845721A>T	ENST00000285311.3	-	3	1215	c.510T>A	c.(508-510)acT>acA	p.T170T	DKK2_ENST00000510463.1_Silent_p.T124T|DKK2_ENST00000513208.1_Silent_p.T70T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	170					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.T170T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGACATCTTAGTGTGTGGTC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	4											200.0	177.0	185.0					4																	107845721		2203	4300	6503	108065170	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.510T>A	4.37:g.107845721A>T			108065170	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																				0.383	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
DNAH11	8701	hgsc.bcm.edu	37	7	21609827	21609827	+	Silent	SNP	T	T	C	rs376831401		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr7:21609827T>C	ENST00000409508.3	+	7	1366	c.1335T>C	c.(1333-1335)ttT>ttC	p.F445F	DNAH11_ENST00000328843.6_Silent_p.F445F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	445	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F445F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGCTACTTTATGGGAAGAA	0.348									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	7						T		0,3612		0,0,1806	79.0	79.0	79.0		1335	0.6	0.0	7		79	1,8147		0,1,4073	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5879	CC,CT,TT		0.0123,0.0,0.0085		445/4524	21609827	1,11759	1806	4074	5880	21576352	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1335T>C	7.37:g.21609827T>C			21576352	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
KCNH5	27133	hgsc.bcm.edu	37	14	63174535	63174535	+	Silent	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr14:63174535C>T	ENST00000322893.7	-	11	2926	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	886					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E886E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGACTGTGCTCTAGCGGAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											129.0	115.0	120.0					14																	63174535		2203	4300	6503	62244288	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2658G>A	14.37:g.63174535C>T			62244288	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
MAK16	84549	hgsc.bcm.edu	37	8	33346510	33346510	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr8:33346510G>A	ENST00000360128.6	+	5	702	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	82						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R82Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TGGTAGGTCCGGCTTAGTAAA	0.423																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	8											90.0	89.0	90.0					8																	33346510		2203	4300	6503	33466052	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.245G>A	8.37:g.33346510G>A	ENSP00000353246:p.Arg82Gln		33466052	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838440	0.71373	.	.	ENSG00000198042	ENST00000360128	T	0.41758	0.99	5.74	4.86	0.63082	.	0.182235	0.48286	D	0.000189	T	0.39172	0.1068	L	0.49513	1.565	0.42219	D	0.991849	B	0.29612	0.251	B	0.26770	0.073	T	0.33599	-0.9862	10	0.62326	D	0.03	-6.7796	14.5251	0.67881	0.0:0.0:0.7343:0.2657	.	82	Q9BXY0	MAK16_HUMAN	Q	82	ENSP00000353246:R82Q	ENSP00000353246:R82Q	R	+	2	0	MAK16	33466052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.664000	0.61540	1.422000	0.47177	0.561000	0.74099	CGG		0.423	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509	
MDFIC	29969	hgsc.bcm.edu	37	7	114619677	114619677	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr7:114619677G>C	ENST00000393486.1	+	4	924	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	MDFIC_ENST00000257724.3_Missense_Mutation_p.G221R	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.G221R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AATTCACCACGGGGCCAAACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											91.0	89.0	90.0					7																	114619677		2203	4300	6503	114406913	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.334G>C	7.37:g.114619677G>C	ENSP00000377126:p.Gly112Arg		114406913		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297839	0.60086	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.1	0.69264	.	0.225393	0.37012	N	0.002298	T	0.60209	0.2251	L	0.53249	1.67	0.47094	D	0.999313	B	0.28636	0.218	B	0.30179	0.112	T	0.60591	-0.7233	9	0.54805	T	0.06	-3.5483	15.5998	0.76616	0.0666:0.0:0.9334:0.0	.	112	Q9P1T7	MDFIC_HUMAN	R	221;112;98;57	.	ENSP00000257724:G221R	G	+	1	0	MDFIC	114406913	1.000000	0.71417	0.856000	0.33681	0.851000	0.48451	5.754000	0.68743	1.509000	0.48786	0.591000	0.81541	GGG		0.468	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
MUC6	4588	hgsc.bcm.edu	37	11	1017069	1017069	+	Missense_Mutation	SNP	G	G	A	rs80333708	byFrequency	TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:1017069G>A	ENST00000421673.2	-	31	5782	c.5732C>T	c.(5731-5733)aCg>aTg	p.T1911M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1911M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTTTGGCCGTGCTAAATGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											696.0	710.0	706.0					11																	1017069		2198	4283	6481	1007069	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5732C>T	11.37:g.1017069G>A	ENSP00000406861:p.Thr1911Met		1007069	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686928	0.48097	.	.	ENSG00000184956	ENST00000421673	T	0.38240	1.15	3.01	3.01	0.34805	.	.	.	.	.	T	0.54983	0.1892	M	0.68317	2.08	0.20074	N	0.999931	D	0.89917	1.0	D	0.79784	0.993	T	0.35773	-0.9775	9	0.59425	D	0.04	.	10.1345	0.42697	0.0:0.0:1.0:0.0	.	1911	Q6W4X9	MUC6_HUMAN	M	1911	ENSP00000406861:T1911M	ENSP00000406861:T1911M	T	-	2	0	MUC6	1007069	0.029000	0.19370	0.095000	0.20976	0.045000	0.14185	0.596000	0.24044	1.642000	0.50584	0.313000	0.20887	ACG		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
OPCML	4978	hgsc.bcm.edu	37	11	132307168	132307168	+	Silent	SNP	C	C	T	rs148098619		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:132307168C>T	ENST00000331898.7	-	4	1190	c.612G>A	c.(610-612)gcG>gcA	p.A204A	OPCML_ENST00000541867.1_Silent_p.A204A|OPCML_ENST00000374778.4_Silent_p.A163A|OPCML_ENST00000524381.1_Silent_p.A197A|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.A204A(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATCGTTCAACGCGCTGCATT	0.547																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	11						C	,	0,4402		0,0,2201	118.0	101.0	107.0		591,612	-1.2	0.9	11	dbSNP_134	107	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	197/339,204/346	132307168	1,12995	2201	4297	6498	131812378	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.612G>A	11.37:g.132307168C>T			131812378	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																				0.547	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
PAH	5053	hgsc.bcm.edu	37	12	103249075	103249075	+	Missense_Mutation	SNP	T	T	C	rs199475617		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr12:103249075T>C	ENST00000553106.1	-	6	1017	c.545A>G	c.(544-546)gAa>gGa	p.E182G	PAH_ENST00000307000.2_Missense_Mutation_p.E177G|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	182					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.E182G(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTTTTCTTCCTCCATGTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	12	GRCh37	CM950885	PAH	M							97.0	92.0	94.0					12																	103249075		2203	4300	6503	101773205	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.545A>G	12.37:g.103249075T>C	ENSP00000448059:p.Glu182Gly		101773205	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161921	0.78226	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99683	-6.39;-6.39	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.143235	0.64402	D	0.000007	D	0.99651	0.9871	M	0.91663	3.23	0.80722	D	1	P;P	0.52577	0.94;0.954	P;P	0.54629	0.757;0.741	D	0.97617	1.0133	10	0.72032	D	0.01	-23.5389	16.0172	0.80450	0.0:0.0:0.0:1.0	rs62650746	182;182	B4DPN2;P00439	.;PH4H_HUMAN	G	182;177	ENSP00000448059:E182G;ENSP00000303500:E177G	ENSP00000303500:E177G	E	-	2	0	PAH	101773205	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.026000	0.64103	2.185000	0.69588	0.454000	0.30748	GAA		0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
PHF20	51230	hgsc.bcm.edu	37	20	34457456	34457456	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr20:34457456G>A	ENST00000374012.3	+	7	1034	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	302					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R302Q(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGTCCTCGGCTTGACAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	20											136.0	137.0	137.0					20																	34457456		2203	4300	6503	33920870	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.905G>A	20.37:g.34457456G>A	ENSP00000363124:p.Arg302Gln		33920870	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416046	0.83449	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.54071	1.27;0.59;0.59	5.5	4.55	0.56014	.	0.408254	0.23981	N	0.042661	T	0.57315	0.2045	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.52031	0.688;0.557;0.54	T	0.58624	-0.7604	10	0.48119	T	0.1	.	14.5775	0.68258	0.0715:0.0:0.9285:0.0	.	302;302;302	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	Q	302	ENSP00000363124:R302Q;ENSP00000341900:R302Q;ENSP00000363112:R302Q	ENSP00000341900:R302Q	R	+	2	0	PHF20	33920870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.772000	0.62324	2.587000	0.87381	0.591000	0.81541	CGG		0.393	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
PRMT5	10419	hgsc.bcm.edu	37	14	23393852	23393852	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr14:23393852G>C	ENST00000324366.8	-	9	1229	c.1006C>G	c.(1006-1008)Cag>Gag	p.Q336E	PRMT5_ENST00000553897.1_Missense_Mutation_p.Q292E|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.Q275E|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.Q319E|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.Q230E|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.Q165E	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	336	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.Q336E(1)|p.Q336*(1)|p.Q319*(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTGGTACTGAGAGTATTTG	0.493																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)	14											102.0	91.0	95.0					14																	23393852		2203	4300	6503	22463692	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1006C>G	14.37:g.23393852G>C	ENSP00000319169:p.Gln336Glu		22463692	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708695	0.30322	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.92	5.92	0.95590	.	0.154543	0.64402	D	0.000013	T	0.17195	0.0413	N	0.25992	0.78	0.80722	D	1	B;B;B;B;B	0.17038	0.007;0.005;0.016;0.005;0.02	B;B;B;B;B	0.21360	0.02;0.023;0.034;0.008;0.023	T	0.09400	-1.0676	10	0.10636	T	0.68	-12.8612	19.0921	0.93231	0.0:0.0:1.0:0.0	.	292;275;165;336;319	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	E	336;319;165;275;230;292;79;231;88;182	ENSP00000319169:Q336E;ENSP00000380583:Q319E;ENSP00000380582:Q165E;ENSP00000216350:Q275E;ENSP00000444915:Q230E;ENSP00000452555:Q292E	ENSP00000216350:Q275E	Q	-	1	0	PRMT5	22463692	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.550000	0.90675	2.813000	0.96785	0.561000	0.74099	CAG		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		
SFXN4	119559	hgsc.bcm.edu	37	10	120920467	120920467	+	Silent	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr10:120920467G>C	ENST00000355697.2	-	5	313	c.294C>G	c.(292-294)ccC>ccG	p.P98P	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Silent_p.P89P	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	98					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.P98P(2)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGCTGCTGTCGGGATGCACTG	0.428																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	10											187.0	182.0	184.0					10																	120920467		2203	4300	6503	120910457	SO:0001819	synonymous_variant	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.294C>G	10.37:g.120920467G>C			120910457	Q6WSU4|Q86TD9	Silent	SNP	ENST00000355697.2	37	CCDS7610.1																																																																																				0.428	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406	
SPEF2	79925	hgsc.bcm.edu	37	5	35644569	35644569	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr5:35644569A>G	ENST00000356031.3	+	4	681	c.527A>G	c.(526-528)gAg>gGg	p.E176G	SPEF2_ENST00000282469.6_Missense_Mutation_p.E176G|SPEF2_ENST00000509059.1_Missense_Mutation_p.E176G|SPEF2_ENST00000440995.2_Missense_Mutation_p.E176G	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	176					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E176G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCATTTTGAGAAACTTGAA	0.313																																																2	Substitution - Missense(2)	ovary(2)	5											38.0	40.0	39.0					5																	35644569		2201	4297	6498	35680326	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.527A>G	5.37:g.35644569A>G	ENSP00000348314:p.Glu176Gly		35680326	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	8.334	0.827065	0.16749	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.43	5.43	0.79202	.	0.528581	0.18631	N	0.135591	T	0.12518	0.0304	L	0.34521	1.04	0.80722	D	1	P;B;B	0.43750	0.816;0.156;0.082	B;B;B	0.37267	0.245;0.054;0.085	T	0.11470	-1.0586	10	0.25106	T	0.35	.	11.5544	0.50739	0.8069:0.1931:0.0:0.0	.	176;176;176	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	G	176	ENSP00000282469:E176G;ENSP00000348314:E176G;ENSP00000421593:E176G;ENSP00000412125:E176G	ENSP00000282469:E176G	E	+	2	0	SPEF2	35680326	1.000000	0.71417	0.977000	0.42913	0.093000	0.18481	3.117000	0.50407	2.059000	0.61396	0.528000	0.53228	GAG		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
TANC2	26115	hgsc.bcm.edu	37	17	61315435	61315435	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr17:61315435G>A	ENST00000424789.2	+	6	812	c.808G>A	c.(808-810)Gca>Aca	p.A270T	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A270T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	270					in utero embryonic development (GO:0001701)			p.A270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATTCAGTAGCAGGTAAgtt	0.338																																																1	Substitution - Missense(1)	ovary(1)	17											14.0	14.0	14.0					17																	61315435		1795	3962	5757	58669167	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.808G>A	17.37:g.61315435G>A	ENSP00000387593:p.Ala270Thr		58669167	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139586	0.94560	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70164	-0.46;-0.42	5.7	5.7	0.88788	.	.	.	.	.	T	0.76478	0.3993	L	0.39020	1.185	0.80722	D	1	P;D	0.89917	0.712;1.0	P;D	0.91635	0.55;0.999	T	0.74808	-0.3539	9	0.42905	T	0.14	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	270;270	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	T	270	ENSP00000374171:A270T;ENSP00000387593:A270T	ENSP00000374171:A270T	A	+	1	0	TANC2	58669167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	GCA		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
USP24	23358	hgsc.bcm.edu	37	1	55612632	55612632	+	Silent	SNP	A	A	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr1:55612632A>C	ENST00000294383.6	-	19	2219	c.2220T>G	c.(2218-2220)acT>acG	p.T740T	USP24_ENST00000407756.1_Silent_p.T580T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T657T(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCCTGGCCAGTTACAAGAC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											115.0	110.0	112.0					1																	55612632		1862	4105	5967	55385220	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2220T>G	1.37:g.55612632A>C			55385220	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
CCKBR	887	hgsc.bcm.edu	37	11	6291039	6291039	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:6291039G>T	ENST00000334619.2	+	2	485	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CCKBR_ENST00000525462.1_Missense_Mutation_p.V98F|CCKBR_ENST00000525014.1_Missense_Mutation_p.V98F|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000531712.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	98					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.V98F(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTCACTGGCAGTCAGCGACCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											148.0	116.0	127.0					11																	6291039		2201	4296	6497	6247615	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.292G>T	11.37:g.6291039G>T	ENSP00000335544:p.Val98Phe		6247615	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794515	0.70452	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.38722	2.75;1.12;2.75	4.83	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.270007	0.30320	N	0.009899	T	0.47783	0.1464	L	0.50333	1.59	0.49051	D	0.999749	P;B;P	0.45176	0.639;0.307;0.852	B;B;P	0.52343	0.237;0.16;0.696	T	0.47209	-0.9135	10	0.62326	D	0.03	.	9.7821	0.40653	0.0:0.1525:0.6899:0.1576	.	98;32;98	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	F	98	ENSP00000335544:V98F;ENSP00000437001:V98F;ENSP00000435534:V98F	ENSP00000335544:V98F	V	+	1	0	CCKBR	6247615	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	1.393000	0.34497	1.233000	0.43693	0.563000	0.77884	GTC		0.577	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
WEE1	7465	hgsc.bcm.edu	37	11	9598752	9598752	+	Silent	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:9598752A>G	ENST00000450114.2	+	5	1336	c.1083A>G	c.(1081-1083)cgA>cgG	p.R361R	WEE1_ENST00000299613.6_Silent_p.R147R|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R361R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ATGTAGTTCGATATTTCTCTG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	11											156.0	151.0	153.0					11																	9598752		2201	4294	6495	9555328	SO:0001819	synonymous_variant	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1083A>G	11.37:g.9598752A>G			9555328	B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1																																																																																				0.358	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390	
TENM1	10178	hgsc.bcm.edu	37	X	123787619	123787619	+	Missense_Mutation	SNP	G	G	A	rs374613583		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chrX:123787619G>A	ENST00000371130.3	-	7	1246	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TENM1_ENST00000422452.2_Missense_Mutation_p.R395W	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	395					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R397W(2)									TCTATCGCCCGTCCCTTCTGA	0.383																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	X						G	TRP/ARG,TRP/ARG,TRP/ARG	1,3834		0,0,1,1632,570	94.0	80.0	85.0		1183,1180,1183	5.6	1.0	X		85	0,6728		0,0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	101,101,101	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	395/2733,394/2732,395/2726	123787619	1,10562	2203	4300	6503	123615300	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1183C>T	X.37:g.123787619G>A	ENSP00000360171:p.Arg395Trp		123615300	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180030	0.57800	2.61E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27720	1.65;1.65	5.6	5.6	0.85130	.	0.072828	0.53938	D	0.000052	T	0.30103	0.0754	L	0.44542	1.39	0.46954	D	0.999262	D;D;D	0.67145	0.996;0.991;0.993	B;B;B	0.43680	0.425;0.425;0.427	T	0.06445	-1.0826	10	0.59425	D	0.04	.	13.6083	0.62061	0.0:0.0:0.8451:0.1549	.	394;395;395	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	395	ENSP00000360171:R395W;ENSP00000403954:R395W	ENSP00000360171:R395W	R	-	1	2	ODZ1	123615300	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.314000	0.51943	2.351000	0.79841	0.529000	0.55759	CGG		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
FAT3	120114	hgsc.bcm.edu	37	11	92592429	92592429	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:92592429A>G	ENST00000298047.6	+	20	11616	c.11599A>G	c.(11599-11601)Aca>Gca	p.T3867A	FAT3_ENST00000533797.1_Missense_Mutation_p.T202A|FAT3_ENST00000409404.2_Missense_Mutation_p.T3867A|FAT3_ENST00000525166.1_Missense_Mutation_p.T3717A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3867	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T442A(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGTCTTCGAACACTGCAAAG	0.393										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											86.0	82.0	83.0					11																	92592429		1853	4097	5950	92232077	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11599A>G	11.37:g.92592429A>G	ENSP00000298047:p.Thr3867Ala		92232077	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.535261	0.85812	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.92750	0.7695	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.85130	0.997;0.973	D	0.93527	0.6866	9	0.56958	D	0.05	.	15.271	0.73702	1.0:0.0:0.0:0.0	.	3867;3867	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	A	3867;3867;3717;202	ENSP00000298047:T3867A;ENSP00000387040:T3867A;ENSP00000432586:T3717A;ENSP00000436399:T202A	ENSP00000298047:T3867A	T	+	1	0	FAT3	92232077	1.000000	0.71417	0.951000	0.38953	0.982000	0.71751	8.832000	0.92079	2.086000	0.62901	0.533000	0.62120	ACA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	hgsc.bcm.edu	37	11	92592450	92592450	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:92592450A>T	ENST00000298047.6	+	20	11637	c.11620A>T	c.(11620-11622)Ata>Tta	p.I3874L	FAT3_ENST00000533797.1_Missense_Mutation_p.I209L|FAT3_ENST00000409404.2_Missense_Mutation_p.I3874L|FAT3_ENST00000525166.1_Missense_Mutation_p.I3724L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3874	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I449L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGGGATTATAATGTACAC	0.383										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											80.0	76.0	77.0					11																	92592450		1858	4097	5955	92232098	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11620A>T	11.37:g.92592450A>T	ENSP00000298047:p.Ile3874Leu		92232098	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.29	3.081172	0.55753	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.05	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.40743	0.1129	N	0.17082	0.46	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.21360	0.034;0.006	T	0.15378	-1.0439	9	0.07325	T	0.83	.	11.3968	0.49847	0.7128:0.2872:0.0:0.0	.	3874;3874	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3874;3874;3724;209	ENSP00000298047:I3874L;ENSP00000387040:I3874L;ENSP00000432586:I3724L;ENSP00000436399:I209L	ENSP00000298047:I3874L	I	+	1	0	FAT3	92232098	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.758000	0.62220	0.832000	0.34804	0.533000	0.62120	ATA		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
SLCO4C1	353189	hgsc.bcm.edu	37	5	101585419	101585419	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr5:101585419C>T	ENST00000310954.6	-	9	1829	c.1543G>A	c.(1543-1545)Gtc>Atc	p.V515I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.V515I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTCCACAGACAGGATAATAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											98.0	95.0	96.0					5																	101585419		2203	4300	6503	101613318	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1543G>A	5.37:g.101585419C>T	ENSP00000309741:p.Val515Ile		101613318		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593720	0.28445	.	.	ENSG00000173930	ENST00000310954	T	0.13089	2.62	5.61	-4.07	0.03975	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.551750	0.16542	N	0.209867	T	0.13415	0.0325	L	0.43554	1.36	0.09310	N	0.999999	B	0.27823	0.19	B	0.36989	0.238	T	0.17837	-1.0356	10	0.27785	T	0.31	.	14.0394	0.64665	0.0:0.3156:0.5648:0.1196	.	515	Q6ZQN7	SO4C1_HUMAN	I	515	ENSP00000309741:V515I	ENSP00000309741:V515I	V	-	1	0	SLCO4C1	101613318	0.000000	0.05858	0.034000	0.17996	0.933000	0.57130	-0.517000	0.06275	-1.339000	0.02230	0.460000	0.39030	GTC		0.418	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
TP53	7157	hgsc.bcm.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr17:7579361A>C	ENST00000269305.4	-	4	515	c.326T>G	c.(325-327)tTc>tGc	p.F109C	TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000420246.2_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F109C	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GCCCAGACGGAAACCGTAGCT	0.612		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	17											62.0	59.0	60.0					17																	7579361		2203	4300	6503	7520086	SO:0001583	missense	7157	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;	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.326T>G	17.37:g.7579361A>C	ENSP00000269305:p.Phe109Cys		7520086	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104070	0.76983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47862	D	0.999536	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.999;0.999;1.0;0.999;0.998	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	109	ENSP00000410739:F109C;ENSP00000352610:F109C;ENSP00000269305:F109C;ENSP00000398846:F109C;ENSP00000391127:F109C;ENSP00000391478:F109C;ENSP00000424104:F109C;ENSP00000426252:F109C	ENSP00000269305:F109C	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
