#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_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ABCA1	19	hgsc.bcm.edu	37	9	107576738	107576738	+	Missense_Mutation	SNP	C	C	T	rs138056193		TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr9:107576738C>T	ENST00000374736.3	-	26	4151	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1253					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.E1253K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCACTCTCTTCGGCCACCTTG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	9						C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	115.0	91.0	99.0		3757	5.3	1.0	9	dbSNP_134	99	0,8600		0,0,4300	no	missense	ABCA1	NM_005502.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1253/2262	107576738	1,13005	2203	4300	6503	106616559	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3757G>A	9.37:g.107576738C>T	ENSP00000363868:p.Glu1253Lys		106616559	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205685	0.79127	2.27E-4	0.0	ENSG00000165029	ENST00000374736	T	0.75367	-0.93	5.3	5.3	0.74995	.	0.097704	0.64402	D	0.000001	T	0.70474	0.3228	L	0.46614	1.455	0.80722	D	1	B	0.26002	0.139	B	0.23716	0.048	T	0.66999	-0.5781	10	0.40728	T	0.16	.	18.9478	0.92628	0.0:1.0:0.0:0.0	.	1253	O95477	ABCA1_HUMAN	K	1253	ENSP00000363868:E1253K	ENSP00000363868:E1253K	E	-	1	0	ABCA1	106616559	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.360000	0.79487	2.499000	0.84300	0.555000	0.69702	GAA		0.458	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		Missense_Mutation
ABHD14A	25864	hgsc.bcm.edu	37	3	52014486	52014486	+	Missense_Mutation	SNP	G	G	A	rs3204679|rs79186892	byFrequency	TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr3:52014486G>A	ENST00000273596.3	+	4	543	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000494103.1_5'Flank|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000404366.2_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	159				D -> N (in Ref. 2; CAB43237). {ECO:0000305}.		cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGCTGCGGGACCTGGAGGT	0.622													G|||	36	0.0071885	0.0	0.0115	5008	,	,		13571	0.0		0.0268	False		,,,				2504	0.001															0			3						G	ASN/ASP	24,4382	30.8+/-60.4	0,24,2179	67.0	65.0	65.0		475	5.7	1.0	3	dbSNP_133	65	219,8381	91.1+/-153.3	2,215,4083	no	missense	ABHD14A	NM_015407.4	23	2,239,6262	AA,AG,GG		2.5465,0.5447,1.8684	probably-damaging	159/272	52014486	243,12763	2203	4300	6503	51989526	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.475G>A	3.37:g.52014486G>A	ENSP00000273596:p.Asp159Asn		51989526	Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	SNP	41	Baylor	30	0.013736263736263736	0	0.0	5	0.013812154696132596	0	0.0	25	0.032981530343007916	G	20.3	3.975300	0.74360	0.005447	0.025465	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.37235	1.21;1.95	5.69	5.69	0.88448	.	0.181291	0.48767	D	0.000172	T	0.14141	0.0342	L	0.49455	1.56	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05468	-1.0883	10	0.17369	T	0.5	-32.1995	17.6064	0.88039	0.0:0.0:1.0:0.0	.	159	Q9BUJ0	ABHEA_HUMAN	N	224;159;117;117	ENSP00000418242:D224N;ENSP00000273596:D159N	ENSP00000273596:D159N	D	+	1	0	ABHD14A	51989526	0.996000	0.38824	0.965000	0.40720	0.486000	0.33341	2.743000	0.47442	2.687000	0.91594	0.563000	0.77884	GAC		0.622	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		Missense_Mutation
ACRC	93953	hgsc.bcm.edu	37	X	70832272	70832272	+	Silent	SNP	T	T	C			TCGA-25-1635-01	TCGA-25-1635-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chrX:70832272T>C	ENST00000373695.1	+	11	2355	c.1818T>C	c.(1816-1818)caT>caC	p.H606H	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.H606H			Q96QF7	ACRC_HUMAN	acidic repeat containing	606	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGGTATCCATGATTCTCATG	0.463																																																0			X											53.0	45.0	48.0					X																	70832272		2203	4300	6503	70748997	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1818T>C	X.37:g.70832272T>C			70748997	B9EG62	Silent	SNP	ENST00000373695.1	37	CCDS35326.1	SNP	51	Baylor																																																																																				0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			Silent
CAD	790	hgsc.bcm.edu	37	2	27457483	27457483	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr2:27457483C>T	ENST00000403525.1	+	22	3671	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	CAD_ENST00000264705.4_Missense_Mutation_p.T1239M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.T1239M(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTGGCCACGCGGGTCATC	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											139.0	127.0	131.0					2																	27457483		2203	4300	6503	27310987	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3527C>T	2.37:g.27457483C>T	ENSP00000384510:p.Thr1176Met		27310987	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		SNP	19	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431094	0.62844	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96992	-4.2;-4.2	5.43	5.43	0.79202	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.043269	0.85682	D	0.000000	D	0.98080	0.9367	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	D	0.98581	1.0650	10	0.87932	D	0	0.3064	14.689	0.69070	0.0:0.854:0.1459:0.0	.	1176;1239	F8VPD4;P27708	.;PYR1_HUMAN	M	1239;1176	ENSP00000264705:T1239M;ENSP00000384510:T1176M	ENSP00000264705:T1239M	T	+	2	0	CAD	27310987	1.000000	0.71417	0.962000	0.40283	0.313000	0.28021	5.618000	0.67722	2.696000	0.92011	0.655000	0.94253	ACG		0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			Missense_Mutation
CIZ1	25792	hgsc.bcm.edu	37	9	130947857	130947857	+	Missense_Mutation	SNP	C	C	T	rs370523965		TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr9:130947857C>T	ENST00000393608.1	-	5	759	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_Missense_Mutation_p.R186Q|CIZ1_ENST00000357558.5_Missense_Mutation_p.R186Q|CIZ1_ENST00000277465.4_Missense_Mutation_p.R186Q|CIZ1_ENST00000325721.8_Missense_Mutation_p.R162Q|CIZ1_ENST00000372948.3_Missense_Mutation_p.R186Q|CIZ1_ENST00000372954.1_Missense_Mutation_p.R162Q|CIZ1_ENST00000541172.1_Missense_Mutation_p.R85Q|CIZ1_ENST00000372938.5_Missense_Mutation_p.R186Q	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	186					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R186Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGAGGAGGTCCGGGCCTGTTT	0.642																																																1	Substitution - Missense(1)	ovary(1)	9						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	62.0	64.0	63.0		557,557,557,485,557	5.4	0.7	9		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	186/843,186/899,186/838,162/819,186/899	130947857	1,13005	2203	4300	6503	129987678	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.557G>A	9.37:g.130947857C>T	ENSP00000377232:p.Arg186Gln		129987678	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	SNP	23	Baylor	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884036	0.91814	0.0	1.16E-4	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.44	5.44	0.79542	.	0.141547	0.32935	N	0.005470	D	0.83653	0.5301	L	0.29908	0.895	0.31576	N	0.655708	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998;0.992;1.0;0.999	D;P;D;P;P;P;D;P	0.69307	0.92;0.776;0.963;0.888;0.888;0.623;0.934;0.776	D	0.83999	0.0342	10	0.56958	D	0.05	-37.1138	16.1154	0.81302	0.0:1.0:0.0:0.0	.	186;186;186;186;162;186;162;186	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	Q	162;186;186;186;162;153;85;186;162;186;186;113;186	ENSP00000362045:R162Q;ENSP00000377232:R186Q;ENSP00000439244:R186Q;ENSP00000350169:R186Q;ENSP00000320374:R162Q;ENSP00000445057:R85Q;ENSP00000277465:R186Q;ENSP00000362039:R186Q;ENSP00000362029:R186Q;ENSP00000398011:R113Q;ENSP00000321780:R186Q	ENSP00000277465:R186Q	R	-	2	0	CIZ1	129987678	0.993000	0.37304	0.738000	0.30950	0.904000	0.53231	3.955000	0.56715	2.832000	0.97577	0.655000	0.94253	CGG		0.642	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		Missense_Mutation
DSC3	1825	hgsc.bcm.edu	37	18	28581615	28581615	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr18:28581615G>A	ENST00000360428.4	-	14	2284	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	DSC3_ENST00000434452.1_Missense_Mutation_p.S735L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	735					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.S735L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGTGTTTGATATAATTAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	18											95.0	98.0	97.0					18																	28581615		2203	4298	6501	26835613	SO:0001583	missense	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2204C>T	18.37:g.28581615G>A	ENSP00000353608:p.Ser735Leu		26835613	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	SNP	45	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431823	0.43122	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.58060	0.36;0.39	4.48	4.48	0.54585	.	0.000000	0.28493	N	0.015160	T	0.75459	0.3852	M	0.85945	2.785	0.53688	D	0.999974	D;D	0.89917	0.997;1.0	D;D	0.81914	0.98;0.995	T	0.80011	-0.1561	10	0.62326	D	0.03	.	17.3066	0.87197	0.0:0.0:1.0:0.0	.	735;735	Q14574;Q14574-2	DSC3_HUMAN;.	L	735	ENSP00000353608:S735L;ENSP00000392068:S735L	ENSP00000353608:S735L	S	-	2	0	DSC3	26835613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.215000	0.72206	2.479000	0.83701	0.557000	0.71058	TCA		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		Missense_Mutation
EML1	2009	hgsc.bcm.edu	37	14	100341316	100341316	+	Intron	SNP	G	G	A			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr14:100341316G>A	ENST00000262233.6	+	4	522				EML1_ENST00000556758.1_Intron|EML1_ENST00000327921.9_Silent_p.S113S|EML1_ENST00000334192.4_Silent_p.S144S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1						brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S144S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGAATAGATCGACACCAAGGT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	14											163.0	148.0	153.0					14																	100341316		2203	4300	6503	99411069	SO:0001627	intron_variant	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.384-3506G>A	14.37:g.100341316G>A			99411069	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	CCDS32155.1	SNP	37	Baylor																																																																																				0.378	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		Silent
HMCN1	83872	hgsc.bcm.edu	37	1	186008994	186008994	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1635-01	TCGA-25-1635-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr1:186008994T>G	ENST00000271588.4	+	39	6392	c.6163T>G	c.(6163-6165)Ttt>Gtt	p.F2055V	HMCN1_ENST00000367492.2_Missense_Mutation_p.F2055V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2055	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.F2055V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTTCTAGTTTTTCTAATGG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											118.0	113.0	115.0					1																	186008994		2203	4300	6503	184275617	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6163T>G	1.37:g.186008994T>G	ENSP00000271588:p.Phe2055Val		184275617	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	SNP	64	Baylor	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735160	0.48939	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71698	-0.59;-0.59	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050090	0.85682	D	0.000000	T	0.68348	0.2991	N	0.11364	0.135	0.50632	D	0.99988	D	0.71674	0.998	D	0.79784	0.993	T	0.66256	-0.5969	10	0.17369	T	0.5	.	14.6532	0.68814	0.0:0.0:0.0:1.0	.	2055	Q96RW7	HMCN1_HUMAN	V	2055	ENSP00000271588:F2055V;ENSP00000356462:F2055V	ENSP00000271588:F2055V	F	+	1	0	HMCN1	184275617	1.000000	0.71417	0.084000	0.20598	0.912000	0.54170	3.121000	0.50438	1.995000	0.58328	0.528000	0.53228	TTT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		Missense_Mutation
ICAM3	3385	hgsc.bcm.edu	37	19	10450218	10450218	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr19:10450218G>A	ENST00000160262.5	-	1	281	c.73C>T	c.(73-75)Cca>Tca	p.P25S	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	25					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.P25S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GTCTCACCTGGGGTCAGCAGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	19											49.0	47.0	48.0					19																	10450218		2203	4300	6503	10311218	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.73C>T	19.37:g.10450218G>A	ENSP00000160262:p.Pro25Ser		10311218	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	SNP	43	Baylor	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403457	0.25291	.	.	ENSG00000076662	ENST00000160262	T	0.02631	4.22	4.35	0.975	0.19721	.	1.566950	0.04210	N	0.331589	T	0.03390	0.0098	L	0.43152	1.355	0.54753	D	0.999987	B	0.18863	0.031	B	0.13407	0.009	T	0.38200	-0.9672	10	0.35671	T	0.21	.	3.3808	0.07254	0.2165:0.0:0.5796:0.2039	.	25	P32942	ICAM3_HUMAN	S	25	ENSP00000160262:P25S	ENSP00000160262:P25S	P	-	1	0	ICAM3	10311218	0.285000	0.24296	0.942000	0.38095	0.642000	0.38348	0.215000	0.17562	0.555000	0.29079	0.561000	0.74099	CCA		0.597	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			Missense_Mutation
IGSF10	285313	hgsc.bcm.edu	37	3	151155721	151155721	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr3:151155721C>T	ENST00000282466.3	-	6	6627	c.6628G>A	c.(6628-6630)Gag>Aag	p.E2210K	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2210	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E2210K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATACGTACTCTCCAGAATCG	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											113.0	108.0	110.0					3																	151155721		2203	4300	6503	152638411	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6628G>A	3.37:g.151155721C>T	ENSP00000282466:p.Glu2210Lys		152638411	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073023	0.55646	.	.	ENSG00000152580	ENST00000282466	T	0.65916	-0.18	5.77	3.94	0.45596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276491	0.25394	N	0.030991	T	0.48804	0.1520	N	0.25380	0.74	0.50039	D	0.999845	B;B	0.22480	0.07;0.032	B;B	0.27796	0.083;0.045	T	0.29058	-1.0024	10	0.20046	T	0.44	.	13.1281	0.59366	0.0:0.867:0.0:0.133	.	2210;237	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	K	2210	ENSP00000282466:E2210K	ENSP00000282466:E2210K	E	-	1	0	IGSF10	152638411	0.895000	0.30542	0.799000	0.32177	0.947000	0.59692	1.874000	0.39568	0.742000	0.32697	0.591000	0.81541	GAG		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		Missense_Mutation
KIAA1324L	222223	hgsc.bcm.edu	37	7	86542379	86542379	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr7:86542379G>A	ENST00000450689.2	-	14	2058	c.1873C>T	c.(1873-1875)Cac>Tac	p.H625Y	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.H385Y|KIAA1324L_ENST00000444627.1_Silent_p.A578A|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.H458Y|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	625						integral component of membrane (GO:0016021)		p.H385Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCAATGTAGTGGCCTGGAGGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											158.0	131.0	140.0					7																	86542379		2203	4300	6503	86380315	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1873C>T	7.37:g.86542379G>A	ENSP00000413445:p.His625Tyr		86380315	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	SNP	47	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.764344|2.764344	0.49574|0.49574	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000416314|ENST00000423294	T;T;T|.	0.58506|.	0.33;0.33;0.33|.	5.82|5.82	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);|.	0.043961|.	0.85682|.	D|.	0.000000|.	T|T	0.69223|0.69223	0.3087|0.3087	L|L	0.56280|0.56280	1.765|1.765	0.80722|0.80722	D|D	1|1	B;P;P|.	0.34724|.	0.065;0.465;0.465|.	B;B;B|.	0.34242|.	0.098;0.178;0.178|.	T|T	0.67688|0.67688	-0.5606|-0.5606	10|5	0.08599|.	T|.	0.76|.	.|.	16.0182|16.0182	0.80460|0.80460	0.0:0.1345:0.8655:0.0|0.0:0.1345:0.8655:0.0	.|.	625;385;458|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	Y|L	625;385;458|585	ENSP00000413445:H625Y;ENSP00000297222:H385Y;ENSP00000402390:H458Y|.	ENSP00000297222:H385Y|.	H|P	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86380315|86380315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.153000|5.153000	0.64888|0.64888	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.547	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		Missense_Mutation
RARG	5916	hgsc.bcm.edu	37	12	53621310	53621310	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr12:53621310C>T	ENST00000425354.2	-	3	507	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.R7Q|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	7	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R7Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGCAAAGAGTCGCTCCTTATT	0.672																																																1	Substitution - Missense(1)	ovary(1)	12											26.0	27.0	27.0					12																	53621310		2202	4297	6499	51907577	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.20G>A	12.37:g.53621310C>T	ENSP00000388510:p.Arg7Gln		51907577	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553812	0.45487	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91740	-2.9;-2.9	4.99	4.99	0.66335	.	0.251393	0.32002	N	0.006723	T	0.79969	0.4538	N	0.08118	0	0.80722	D	1	P	0.42871	0.792	B	0.26693	0.072	D	0.84336	0.0524	10	0.62326	D	0.03	.	13.98	0.64299	0.0:1.0:0.0:0.0	.	7	P13631	RARG_HUMAN	Q	7	ENSP00000388510:R7Q;ENSP00000377947:R7Q	ENSP00000377947:R7Q	R	-	2	0	RARG	51907577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.521000	0.53472	2.769000	0.95229	0.563000	0.77884	CGA		0.672	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		Missense_Mutation
RB1	5925	hgsc.bcm.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C	rs587778831		TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr13:48951053G>C	ENST00000267163.4	+	13	1353		c.e13-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCTCCTAAAGAACTGCACAG	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	13	GRCh37	CS971888	RB1	S							83.0	90.0	88.0					13																	48951053		2203	4300	6503	47849054	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1216-1G>C	13.37:g.48951053G>C			47849054	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site_SNP	SNP	ENST00000267163.4	37	CCDS31973.1	SNP	33	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942494	0.73672	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47849054	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.600000	0.90860	2.814000	0.96858	0.591000	0.81541	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	Splice_Site_SNP
SALL1	6299	hgsc.bcm.edu	37	16	51173556	51173556	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr16:51173556C>G	ENST00000251020.4	-	2	2610	c.2577G>C	c.(2575-2577)gaG>gaC	p.E859D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.E762D|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	859					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E859D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTCGACATCTCGAGGGGCA	0.527																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	ovary(1)	16											95.0	93.0	94.0					16																	51173556		2198	4300	6498	49731057	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2577G>C	16.37:g.51173556C>G	ENSP00000251020:p.Glu859Asp		49731057	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085913	0.08583	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.47869	0.83;0.83	5.37	1.87	0.25490	.	0.217339	0.47852	D	0.000212	T	0.37019	0.0988	L	0.36672	1.1	0.38453	D	0.947029	P	0.49447	0.924	P	0.47044	0.535	T	0.16778	-1.0391	10	0.19590	T	0.45	.	7.2674	0.26237	0.0:0.5629:0.0:0.4371	.	859	Q9NSC2	SALL1_HUMAN	D	859;762;823	ENSP00000251020:E859D;ENSP00000407914:E762D	ENSP00000251020:E859D	E	-	3	2	SALL1	49731057	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	1.170000	0.31883	0.645000	0.30675	0.460000	0.39030	GAG		0.527	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		Missense_Mutation
SLC12A5	57468	hgsc.bcm.edu	37	20	44674980	44674980	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr20:44674980C>G	ENST00000454036.2	+	14	1810	c.1761C>G	c.(1759-1761)ttC>ttG	p.F587L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.F564L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	587					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.F564L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTCCAGGTTCTTCCTGATGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											101.0	88.0	93.0					20																	44674980		2203	4300	6503	44108387	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1761C>G	20.37:g.44674980C>G	ENSP00000387694:p.Phe587Leu		44108387	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727519	0.69074	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98996	-5.31;-5.31	4.24	4.24	0.50183	Amino acid permease domain (1);	0.067332	0.64402	D	0.000013	D	0.98463	0.9488	M	0.83223	2.63	0.80722	D	1	P;B	0.36974	0.576;0.11	B;B	0.43990	0.438;0.164	D	0.99050	1.0827	10	0.87932	D	0	.	9.2111	0.37320	0.0:0.8994:0.0:0.1006	.	587;564	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	L	587;564	ENSP00000387694:F587L;ENSP00000243964:F564L	ENSP00000243964:F564L	F	+	3	2	SLC12A5	44108387	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.349000	0.20055	2.201000	0.70794	0.557000	0.71058	TTC		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			Missense_Mutation
TLR7	51284	hgsc.bcm.edu	37	X	12904346	12904346	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1635-01	TCGA-25-1635-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chrX:12904346T>C	ENST00000380659.3	+	3	858	c.719T>C	c.(718-720)aTc>aCc	p.I240T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	240					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.I240T(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATTGCAAAAATCCAAGAAGAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											69.0	63.0	65.0					X																	12904346		2203	4300	6503	12814267	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.719T>C	X.37:g.12904346T>C	ENSP00000370034:p.Ile240Thr		12814267	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	SNP	50	Baylor	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282489	0.40394	.	.	ENSG00000196664	ENST00000380659	T	0.02812	4.15	5.41	5.41	0.78517	.	0.151793	0.43919	D	0.000501	T	0.18759	0.0450	H	0.95365	3.66	0.21675	N	0.999593	P	0.52061	0.95	P	0.55161	0.77	T	0.32322	-0.9911	10	0.87932	D	0	.	14.4614	0.67453	0.0:0.0:0.0:1.0	.	240	Q9NYK1	TLR7_HUMAN	T	240	ENSP00000370034:I240T	ENSP00000370034:I240T	I	+	2	0	TLR7	12814267	0.997000	0.39634	0.764000	0.31436	0.114000	0.19823	7.986000	0.88173	1.794000	0.52575	0.477000	0.44152	ATC		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		Missense_Mutation
STAG2	10735	hgsc.bcm.edu	37	X	123220410	123220410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chrX:123220410G>T	ENST00000371160.1	+	30	3357	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E954*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E1023*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1023					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E1023*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGTTTACTTGGAAAAGTTCAT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	X											134.0	111.0	118.0					X																	123220410		2203	4300	6503	123048091	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3067G>T	X.37:g.123220410G>T	ENSP00000360202:p.Glu1023*		123048091	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	44	11.179610	0.99527	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.6006	18.308	0.90189	0.0:0.0:1.0:0.0	.	.	.	.	X	1023;954;1023;1023;1023;1023	.	ENSP00000218089:E1023X	E	+	1	0	STAG2	123048091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.349000	0.79799	0.513000	0.50165	GAA		0.398	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		Nonsense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr17:7577506C>A	ENST00000269305.4	-	7	964	c.775G>T	c.(775-777)Gac>Tac	p.D259Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.D259Y|TP53_ENST00000445888.2_Missense_Mutation_p.D259Y|TP53_ENST00000455263.2_Missense_Mutation_p.D259Y|TP53_ENST00000420246.2_Missense_Mutation_p.D259Y|TP53_ENST00000359597.4_Missense_Mutation_p.D259Y	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)	GACCTGGAGTCTTCCAGTGTG	0.582		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"""	51	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	ovary(10)|lung(8)|large_intestine(7)|oesophagus(6)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|thyroid(1)|stomach(1)|soft_tissue(1)|cervix(1)|urinary_tract(1)|breast(1)|skin(1)|eye(1)|autonomic_ganglia(1)	17											135.0	95.0	109.0					17																	7577506		2203	4300	6503	7518231	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.775G>T	17.37:g.7577506C>A	ENSP00000269305:p.Asp259Tyr		7518231	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	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635716	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99667	0.9876	M	0.73962	2.25	0.46774	D	0.999194	B;D;B;B;D	0.76494	0.097;0.983;0.03;0.338;0.999	B;P;B;B;D	0.72075	0.191;0.847;0.093;0.29;0.976	D	0.97265	0.9907	10	0.72032	D	0.01	-22.926	15.1458	0.72650	0.0:1.0:0.0:0.0	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Y	259;259;259;259;259;259;248;127	ENSP00000410739:D259Y;ENSP00000352610:D259Y;ENSP00000269305:D259Y;ENSP00000398846:D259Y;ENSP00000391127:D259Y;ENSP00000391478:D259Y;ENSP00000425104:D127Y	ENSP00000269305:D259Y	D	-	1	0	TP53	7518231	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	2.570000	0.45981	2.517000	0.84864	0.462000	0.41574	GAC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
TTC39C	125488	hgsc.bcm.edu	37	18	21660800	21660800	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01	TCGA-25-1635-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr18:21660800C>T	ENST00000317571.3	+	5	948	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	TTC39C_ENST00000304621.6_Missense_Mutation_p.L177F|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	238								p.L177F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CCCAAACCTGCTCAAAATCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	18											91.0	89.0	89.0					18																	21660800		2203	4300	6503	19914798	SO:0001583	missense	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.712C>T	18.37:g.21660800C>T	ENSP00000323645:p.Leu238Phe		19914798	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	SNP	28	Baylor	.	.	.	.	.	.	.	.	.	.	c	28.4	4.914508	0.92178	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52057	0.68;0.68	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73836	-0.3857	10	0.72032	D	0.01	-14.6795	20.0231	0.97510	0.0:1.0:0.0:0.0	.	238	Q8N584	TT39C_HUMAN	F	177;238	ENSP00000306598:L177F;ENSP00000323645:L238F	ENSP00000306598:L177F	L	+	1	0	TTC39C	19914798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.738000	0.68613	2.733000	0.93635	0.552000	0.68991	CTC		0.493	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		Missense_Mutation
ZBTB11	27107	hgsc.bcm.edu	37	3	101370393	101370393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1635-01	TCGA-25-1635-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1635-01	TCGA-25-1635-10	g.chr3:101370393G>A	ENST00000312938.4	-	11	3359	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R927*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGAGTGTTCGAGCATCTATG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	3											117.0	116.0	116.0					3																	101370393		2203	4300	6503	102853083	SO:0001587	stop_gained	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2779C>T	3.37:g.101370393G>A	ENSP00000326200:p.Arg927*		102853083	Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	45	11.302575	0.99544	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.81	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-8.6101	9.7243	0.40322	0.0651:0.0:0.6812:0.2537	.	.	.	.	X	927	.	ENSP00000326200:R927X	R	-	1	2	ZBTB11	102853083	1.000000	0.71417	0.600000	0.28864	0.994000	0.84299	5.285000	0.65633	0.360000	0.24265	0.555000	0.69702	CGA		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		Nonsense_Mutation
