#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	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_dbSNPPopFreq	i_dbSNP_AF	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
ARID1A	8289	hgsc.bcm.edu	37	1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1721*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.R1721X		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	ARID1A,NS,carcinoma,0,8	ARID1A	842	.	3	Substitution - Nonsense(3)	ovary(1)|large_intestine(1)|endometrium(1)	c.C5161T						.						184.0	203.0	196.0					1																	27105550		2203	4300	6503	SO:0001587	stop_gained	8289	exon20			TATTTCCGACGAT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5161C>T	chr1.hg19:g.27105550C>T	ENSP00000320485:p.Arg1721*	122.0	0.0		234.0	117.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.126146|9.126146	0.99073|0.99073	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.060827	.|0.64402	.|D	.|0.000007	T|.	0.34745|.	0.0908|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15954|.	-1.0419|.	4|.	.|0.02654	.|T	.|1	-6.2012|-6.2012	13.2131|13.2131	0.59836|0.59836	0.159:0.841:0.0:0.0|0.159:0.841:0.0:0.0	.|.	.|.	.|.	.|.	L|X	617|1721;1504;1338;49	.|.	.|ENSP00000320485:R1721X	P|R	+|+	2|1	0|2	ARID1A|ARID1A	26978137|26978137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.413000|2.413000	0.44618|0.44618	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	CCG|CGA	.	.		0.443	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
LCE1B	353132	hgsc.bcm.edu	37	1	152785040	152785040	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr1:152785040G>T	ENST00000360090.3	+	1	594	c.118G>T	c.(118-120)Gtc>Ttc	p.V40F		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	40					keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTCCTCCAGTCTCTTCCTG	0.647																																					p.V40F		Atlas-SNP	.											.	LCE1B	45	.	0			c.G118T						.						92.0	95.0	94.0					1																	152785040		2203	4300	6503	SO:0001583	missense	353132	exon1			CCTCCAGTCTCTT	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.118G>T	chr1.hg19:g.152785040G>T	ENSP00000353203:p.Val40Phe	100.0	0.0		839.0	180.0	NM_178349	A4IF40	Missense_Mutation	SNP	ENST00000360090.3	hg19	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696611	0.30142	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.04862	3.54	4.34	4.34	0.51931	.	0.856987	0.09501	N	0.793570	T	0.06735	0.0172	L	0.51422	1.61	0.27140	N	0.961677	D	0.54207	0.965	P	0.50708	0.648	T	0.16158	-1.0412	10	0.87932	D	0	.	12.5252	0.56083	0.0:0.0:1.0:0.0	.	40	Q5T7P3	LCE1B_HUMAN	F	40	ENSP00000353203:V40F	ENSP00000353203:V40F	V	+	1	0	LCE1B	151051664	0.397000	0.25270	0.932000	0.37286	0.872000	0.50106	2.780000	0.47742	2.398000	0.81561	0.650000	0.86243	GTC	.	.		0.647	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349	
OR2M3	127062	hgsc.bcm.edu	37	1	248366773	248366773	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr1:248366773T>C	ENST00000456743.1	+	1	442	c.404T>C	c.(403-405)cTc>cCc	p.L135P		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACACCAATCTCATGAGCCCT	0.438																																					p.L135P		Atlas-SNP	.											.	OR2M3	116	.	0			c.T404C						.						218.0	219.0	218.0					1																	248366773		2203	4300	6503	SO:0001583	missense	127062	exon1			CCAATCTCATGAG		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.404T>C	chr1.hg19:g.248366773T>C	ENSP00000389625:p.Leu135Pro	147.0	0.0		911.0	202.0	NM_001004689	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	hg19	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249464	0.39797	.	.	ENSG00000228198	ENST00000456743	T	0.33654	1.4	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.321128	0.17282	U	0.179973	T	0.65091	0.2658	M	0.93241	3.395	0.29984	N	0.817421	D	0.65815	0.995	D	0.66716	0.946	T	0.66280	-0.5963	10	0.87932	D	0	.	10.4551	0.44546	0.0:0.0:0.0:1.0	.	135	Q8NG83	OR2M3_HUMAN	P	135	ENSP00000389625:L135P	ENSP00000389625:L135P	L	+	2	0	OR2M3	246433396	0.007000	0.16637	0.077000	0.20336	0.007000	0.05969	1.217000	0.32455	1.168000	0.42723	0.333000	0.21579	CTC	.	.		0.438	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
IL18RAP	8807	hgsc.bcm.edu	37	2	103068506	103068506	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr2:103068506G>T	ENST00000264260.2	+	12	2254	c.1665G>T	c.(1663-1665)atG>atT	p.M555I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.M413I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	555	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGCCAAAATGCGCTACCACA	0.453																																					p.M555I		Atlas-SNP	.											.	IL18RAP	102	.	0			c.G1665T						.						138.0	149.0	145.0					2																	103068506		2203	4300	6503	SO:0001583	missense	8807	exon12			CAAAATGCGCTAC	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1665G>T	chr2.hg19:g.103068506G>T	ENSP00000264260:p.Met555Ile	67.0	0.0		152.0	61.0	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	hg19	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300447	0.01364	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02103	4.45;4.45	6.02	-6.57	0.01842	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.758254	0.13065	N	0.416553	T	0.00936	0.0031	N	0.11313	0.125	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.45086	-0.9285	10	0.35671	T	0.21	.	0.2591	0.00216	0.2796:0.1562:0.2495:0.3148	.	555	O95256	I18RA_HUMAN	I	555;413	ENSP00000264260:M555I;ENSP00000387201:M413I	ENSP00000264260:M555I	M	+	3	0	IL18RAP	102434938	0.000000	0.05858	0.044000	0.18714	0.081000	0.17604	-0.750000	0.04808	-0.699000	0.05077	-0.158000	0.13435	ATG	.	.		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
PLA2R1	22925	hgsc.bcm.edu	37	2	160833216	160833216	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr2:160833216A>G	ENST00000283243.7	-	16	2623	c.2417T>C	c.(2416-2418)aTt>aCt	p.I806T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.I806T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	806					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCAGAACGGAATCTTGGGTTT	0.353																																					p.I806T		Atlas-SNP	.											.	PLA2R1	153	.	0			c.T2417C						.						88.0	81.0	84.0					2																	160833216		2203	4300	6503	SO:0001583	missense	22925	exon16			AACGGAATCTTGG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2417T>C	chr2.hg19:g.160833216A>G	ENSP00000283243:p.Ile806Thr	121.0	0.0		250.0	115.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	1.441	-0.567640	0.03910	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.06218	3.37;3.33	4.77	3.62	0.41486	.	0.335919	0.30528	N	0.009440	T	0.06554	0.0168	L	0.60455	1.87	0.28249	N	0.925339	B;P;B	0.36959	0.004;0.575;0.265	B;B;B	0.33620	0.011;0.167;0.116	T	0.21245	-1.0251	10	0.14252	T	0.57	.	9.3311	0.38023	0.913:0.0:0.087:0.0	.	806;806;806	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	T	806	ENSP00000283243:I806T;ENSP00000376524:I806T	ENSP00000283243:I806T	I	-	2	0	PLA2R1	160541462	0.985000	0.35326	0.894000	0.35097	0.968000	0.65278	1.144000	0.31565	0.798000	0.33994	0.459000	0.35465	ATT	.	.		0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
TNS1	7145	hgsc.bcm.edu	37	2	218696257	218696257	+	Silent	SNP	C	C	T	rs545831386		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr2:218696257C>T	ENST00000171887.4	-	20	3371	c.2919G>A	c.(2917-2919)ccG>ccA	p.P973P	TNS1_ENST00000419504.1_Silent_p.P973P|TNS1_ENST00000430930.1_Silent_p.P973P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	973					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGACCCGGGGGGGACC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15732	0.001		0.0	False		,,,				2504	0.0				p.P973P		Atlas-SNP	.											.	TNS1	251	.	0			c.G2919A						.																																			SO:0001819	synonymous_variant	7145	exon20			CAGACCCGGGGGG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2919G>A	chr2.hg19:g.218696257C>T		16.0	0.0		35.0	18.0	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	hg19	CCDS2407.1																																																																																			.	.		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
SPATA3	130560	hgsc.bcm.edu	37	2	231865207	231865207	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr2:231865207A>T	ENST00000452881.1	+	2	536	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	SPATA3_ENST00000409956.1_Intron|SPATA3_ENST00000433428.2_Missense_Mutation_p.Q143L|SPATA3_ENST00000424440.1_Missense_Mutation_p.Q143L|SPATA3_ENST00000455816.1_Missense_Mutation_p.Q143L			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	143										endometrium(2)|lung(1)	3						CGGGACTGGCAGATGGCGCCA	0.657																																					p.Q143L		Atlas-SNP	.											.	SPATA3	52	.	0			c.A428T						.						25.0	25.0	25.0					2																	231865207		692	1591	2283	SO:0001583	missense	130560	exon2			ACTGGCAGATGGC	AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.428A>T	chr2.hg19:g.231865207A>T	ENSP00000388895:p.Gln143Leu	62.0	0.0		133.0	53.0	NM_139073	Q86WX5|Q8N9Y6	Missense_Mutation	SNP	ENST00000452881.1	hg19	CCDS2481.1	.	.	.	.	.	.	.	.	.	.	A	9.227	1.034914	0.19590	.	.	ENSG00000173699	ENST00000424440;ENST00000452881;ENST00000433428;ENST00000455816;ENST00000355662	.	.	.	4.25	0.837	0.18896	.	0.717913	0.12081	N	0.501350	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	0.99999	B	0.12013	0.005	B	0.08055	0.003	T	0.16660	-1.0395	9	0.41790	T	0.15	-3.66	5.5896	0.17293	0.3449:0.5134:0.0:0.1416	.	134	Q8NHX4	SPTA3_HUMAN	L	143;143;143;143;134	.	ENSP00000347884:Q134L	Q	+	2	0	SPATA3	231573451	0.026000	0.19158	0.236000	0.24074	0.474000	0.32979	-0.081000	0.11321	0.150000	0.19136	0.533000	0.62120	CAG	.	.		0.657	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
SI	6476	hgsc.bcm.edu	37	3	164750329	164750329	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr3:164750329G>A	ENST00000264382.3	-	24	2779	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	906	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCATCATAAGTGAAATTGGA	0.313										HNSCC(35;0.089)																											p.T906I		Atlas-SNP	.											.	SI	500	.	0			c.C2717T						.						136.0	132.0	133.0					3																	164750329		2202	4300	6502	SO:0001583	missense	6476	exon24			TCATAAGTGAAAT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2717C>T	chr3.hg19:g.164750329G>A	ENSP00000264382:p.Thr906Ile	49.0	0.0		96.0	35.0	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105222	0.20632	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	4.88	1.8	0.24995	.	0.881571	0.10133	N	0.711840	T	0.21347	0.0514	M	0.85197	2.74	0.23930	N	0.996436	B	0.18863	0.031	B	0.16289	0.015	T	0.22591	-1.0212	10	0.72032	D	0.01	.	9.0727	0.36502	0.0:0.4573:0.3861:0.1566	.	906	P14410	SUIS_HUMAN	I	906	ENSP00000264382:T906I	ENSP00000264382:T906I	T	-	2	0	SI	166233023	0.996000	0.38824	0.364000	0.25888	0.701000	0.40568	0.488000	0.22371	0.720000	0.32209	0.655000	0.94253	ACT	.	.		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
DSPP	1834	hgsc.bcm.edu	37	4	88536324	88536324	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr4:88536324A>G	ENST00000282478.7	+	4	2543	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N837S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	837	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gatagcagcaacagcagtgat	0.498																																					p.N837S		Atlas-SNP	.											.	DSPP	174	.	0			c.A2510G						.						89.0	111.0	103.0					4																	88536324		1649	2948	4597	SO:0001583	missense	1834	exon5			GCAGCAACAGCAG	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2510A>G	chr4.hg19:g.88536324A>G	ENSP00000282478:p.Asn837Ser	112.0	0.0		313.0	19.0	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	0.880	-0.728918	0.03135	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	0.918	-1.71	0.08133	.	.	.	.	.	T	0.70587	0.3241	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58912	-0.7552	9	0.02654	T	1	.	3.1451	0.06469	0.7043:0.0:0.2957:0.0	.	837	Q9NZW4	DSPP_HUMAN	S	837	ENSP00000382213:N837S;ENSP00000282478:N837S	ENSP00000282478:N837S	N	+	2	0	DSPP	88755348	0.287000	0.24315	0.010000	0.14722	0.001000	0.01503	0.825000	0.27393	-0.158000	0.11040	-1.782000	0.00648	AAC	.	.		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
IRF2	3660	hgsc.bcm.edu	37	4	185320192	185320192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr4:185320192C>A	ENST00000393593.3	-	7	778	c.571G>T	c.(571-573)Gag>Tag	p.E191*		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	191					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGACAATCTCTTGATTCTCA	0.493																																					p.E191X		Atlas-SNP	.											.	IRF2	53	.	0			c.G571T						.						135.0	112.0	120.0					4																	185320192		2203	4300	6503	SO:0001587	stop_gained	3660	exon7			CAATCTCTTGATT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.571G>T	chr4.hg19:g.185320192C>A	ENSP00000377218:p.Glu191*	73.0	0.0		104.0	88.0	NM_002199	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Nonsense_Mutation	SNP	ENST00000393593.3	hg19	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.494998|4.494998	0.85069|0.85069	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000502750|ENST00000505067	.|.	.|.	.|.	5.9|5.9	5.06|5.06	0.68205|0.68205	.|.	0.652135|.	0.15902|.	N|.	0.239008|.	.|T	.|0.53465	.|0.1798	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61486	.|-0.7053	.|3	0.06891|.	T|.	0.86|.	-10.9067|-10.9067	10.0205|10.0205	0.42039|0.42039	0.0:0.8011:0.0:0.1989|0.0:0.8011:0.0:0.1989	.|.	.|.	.|.	.|.	X|I	191;48|124	.|.	ENSP00000377218:E191X|.	E|R	-|-	1|2	0|0	IRF2|IRF2	185557186|185557186	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	0.884000|0.884000	0.28214|0.28214	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GAG|AGA	.	.		0.493	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
VCAN	1462	hgsc.bcm.edu	37	5	82833574	82833574	+	Silent	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr5:82833574C>T	ENST00000265077.3	+	8	5317	c.4752C>T	c.(4750-4752)ccC>ccT	p.P1584P	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.P597P|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1584	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CATACACTCCCACTATAGTTC	0.408																																					p.P1584P		Atlas-SNP	.											.	VCAN	498	.	0			c.C4752T						.						89.0	91.0	90.0					5																	82833574		2203	4300	6503	SO:0001819	synonymous_variant	1462	exon8			CACTCCCACTATA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4752C>T	chr5.hg19:g.82833574C>T		77.0	0.0		119.0	30.0	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	hg19	CCDS4060.1																																																																																			.	.		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
FBN2	2201	hgsc.bcm.edu	37	5	127681089	127681089	+	Silent	SNP	A	A	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr5:127681089A>T	ENST00000508053.1	-	30	4151	c.3177T>A	c.(3175-3177)gcT>gcA	p.A1059A	FBN2_ENST00000508989.1_Silent_p.A1026A|FBN2_ENST00000262464.4_Silent_p.A1059A			P35556	FBN2_HUMAN	fibrillin 2	1059					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCTCGGTTAGCAAAGCCAG	0.607																																					p.A1059A		Atlas-SNP	.											.	FBN2	858	.	0			c.T3177A						.						79.0	85.0	83.0					5																	127681089		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon24			TCGGTTAGCAAAG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3177T>A	chr5.hg19:g.127681089A>T		45.0	0.0		93.0	26.0	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	hg19	CCDS34222.1																																																																																			.	.		0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
MUC21	394263	hgsc.bcm.edu	37	6	30954774	30954774	+	Missense_Mutation	SNP	G	G	C	rs41288649		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr6:30954774G>C	ENST00000376296.3	+	2	1063	c.822G>C	c.(820-822)gaG>gaC	p.E274D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	274	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAACTCTGAGTCCAGCACAG	0.612																																					p.E274D		Atlas-SNP	.											.	MUC21	98	.	0			c.G822C						.						185.0	181.0	182.0					6																	30954774		2203	4300	6503	SO:0001583	missense	394263	exon2			CTCTGAGTCCAGC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.822G>C	chr6.hg19:g.30954774G>C	ENSP00000365473:p.Glu274Asp	63.0	0.0		472.0	46.0	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	hg19	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.723	0.697571	0.15106	.	.	ENSG00000204544	ENST00000376296	T	0.01963	4.53	3.7	-3.24	0.05094	.	.	.	.	.	T	0.00552	0.0018	L	0.29908	0.895	0.09310	N	1	P	0.40834	0.73	B	0.37451	0.25	T	0.48080	-0.9066	8	.	.	.	0.085	4.9779	0.14149	0.291:0.3326:0.3764:0.0	.	274	Q5SSG8	MUC21_HUMAN	D	274	ENSP00000365473:E274D	.	E	+	3	2	MUC21	31062753	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-2.404000	0.01045	-0.243000	0.09653	0.472000	0.43445	GAG	.	G|0.500;C|0.500		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
TPD52L1	7164	hgsc.bcm.edu	37	6	125584076	125584076	+	Missense_Mutation	SNP	C	C	T	rs559154046		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr6:125584076C>T	ENST00000534000.1	+	7	879	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000532429.1_Missense_Mutation_p.R166W|TPD52L1_ENST00000304877.13_Missense_Mutation_p.R200W|TPD52L1_ENST00000527711.1_Missense_Mutation_p.R182W|TPD52L1_ENST00000534199.1_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000368388.2_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	195					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGGAGGCTCCCGGCGGACCAA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14409	0.0		0.0	False		,,,				2504	0.0				p.R195W		Atlas-SNP	.											.	TPD52L1	14	.	0			c.C583T						.						37.0	35.0	36.0					6																	125584076		2203	4300	6503	SO:0001583	missense	7164	exon7			GGCTCCCGGCGGA	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.583C>T	chr6.hg19:g.125584076C>T	ENSP00000434142:p.Arg195Trp	16.0	0.0		18.0	10.0	NM_003287	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	hg19	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896287	0.33442	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000527711;ENST00000532429;ENST00000392484	T;T;T;T	0.48201	1.4;1.39;1.77;0.82	5.53	2.67	0.31697	.	1.108680	0.06628	N	0.758775	T	0.10981	0.0268	N	0.08118	0	0.22666	N	0.998871	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.66056	D	0.02	-3.2296	5.1614	0.15064	0.1497:0.627:0.1444:0.0789	.	195	Q16890	TPD53_HUMAN	W	200;195;182;166;195	ENSP00000306285:R200W;ENSP00000434142:R195W;ENSP00000436953:R182W;ENSP00000435447:R166W	ENSP00000306285:R200W	R	+	1	2	TPD52L1	125625775	0.004000	0.15560	0.012000	0.15200	0.850000	0.48378	1.103000	0.31062	0.253000	0.21552	-0.133000	0.14855	CGG	.	.		0.612	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		
ARHGAP18	93663	hgsc.bcm.edu	37	6	129927037	129927037	+	Silent	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr6:129927037G>A	ENST00000368149.2	-	10	1438	c.1350C>T	c.(1348-1350)aaC>aaT	p.N450N		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GTGTGTCCCTGTTTGCATCAG	0.363																																					p.N450N		Atlas-SNP	.											.	ARHGAP18	52	.	0			c.C1350T						.						156.0	161.0	160.0					6																	129927037		2203	4300	6503	SO:0001819	synonymous_variant	93663	exon10			GTCCCTGTTTGCA	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1350C>T	chr6.hg19:g.129927037G>A		68.0	0.0		89.0	65.0	NM_033515		Silent	SNP	ENST00000368149.2	hg19	CCDS34535.1																																																																																			.	.		0.363	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	
INHBA	3624	hgsc.bcm.edu	37	7	41729607	41729607	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr7:41729607G>A	ENST00000242208.4	-	3	1168	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R308C	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	308					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCCGCCGACGCCGGCGATGA	0.557										TSP Lung(11;0.080)																											p.R308C		Atlas-SNP	.											INHBA,colon,carcinoma,0,1	INHBA	118	.	0			c.C922T						.						102.0	107.0	106.0					7																	41729607		2203	4300	6503	SO:0001583	missense	3624	exon3			GCCGACGCCGGCG		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.922C>T	chr7.hg19:g.41729607G>A	ENSP00000242208:p.Arg308Cys	32.0	1.0		65.0	38.0	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	hg19	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	14.88	2.667375	0.47677	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.81078	-1.45;-1.45	5.82	3.97	0.46021	Transforming growth factor-beta, C-terminal (1);	0.169098	0.53938	D	0.000059	D	0.89252	0.6662	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.90438	0.4429	10	0.87932	D	0	-20.4552	13.9132	0.63881	0.0:0.0:0.6004:0.3996	.	308	P08476	INHBA_HUMAN	C	308	ENSP00000242208:R308C;ENSP00000397197:R308C	ENSP00000242208:R308C	R	-	1	0	INHBA	41696132	0.898000	0.30612	0.799000	0.32177	0.986000	0.74619	2.807000	0.47955	0.762000	0.33152	0.484000	0.47621	CGT	.	.		0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
ZNF107	51427	hgsc.bcm.edu	37	7	64167564	64167564	+	Silent	SNP	T	T	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr7:64167564T>C	ENST00000395391.1	+	4	2257	c.882T>C	c.(880-882)caT>caC	p.H294H	ZNF107_ENST00000344930.3_Silent_p.H294H|ZNF107_ENST00000423627.1_Silent_p.H294H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAAATTCATACTGGAGGGA	0.358																																					p.H294H		Atlas-SNP	.											.	ZNF107	107	.	0			c.T882C						.						41.0	46.0	45.0					7																	64167564		2195	4298	6493	SO:0001819	synonymous_variant	51427	exon7			AATTCATACTGGA	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.882T>C	chr7.hg19:g.64167564T>C		43.0	0.0		81.0	40.0	NM_016220		Silent	SNP	ENST00000395391.1	hg19	CCDS5527.1																																																																																			.	.		0.358	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ELN	2006	hgsc.bcm.edu	37	7	73474235	73474235	+	Silent	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr7:73474235C>T	ENST00000252034.7	+	23	1833	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	ELN_ENST00000380584.4_Silent_p.G445G|ELN_ENST00000414324.1_Silent_p.G454G|ELN_ENST00000357036.5_Silent_p.G483G|ELN_ENST00000380553.4_Silent_p.G342G|ELN_ENST00000380575.4_Silent_p.G449G|ELN_ENST00000380562.4_Silent_p.G484G|ELN_ENST00000445912.1_Silent_p.G478G|ELN_ENST00000380576.5_Silent_p.G459G|ELN_ENST00000429192.1_Silent_p.G464G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320492.7_Silent_p.G397G|ELN_ENST00000458204.1_Silent_p.G468G|ELN_ENST00000358929.4_Silent_p.G513G|ELN_ENST00000320399.6_Silent_p.G478G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTGGTGTCGGCGTGGCTCCTG	0.572			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																														p.G483G		Atlas-SNP	.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	ELN	81	.	0			c.C1449T						.						247.0	236.0	239.0					7																	73474235		2203	4300	6503	SO:0001819	synonymous_variant	2006	exon23			TGTCGGCGTGGCT		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1434C>T	chr7.hg19:g.73474235C>T		99.0	0.0		614.0	39.0	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	hg19	CCDS5562.2																																																																																			.	.		0.572	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
SLC26A4	5172	hgsc.bcm.edu	37	7	107315471	107315471	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr7:107315471G>T	ENST00000265715.3	+	6	906	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	228					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACAGCTGCTGCCTTCCAAGT	0.418									Pendred syndrome																												p.A228S		Atlas-SNP	.											.	SLC26A4	117	.	0			c.G682T	GRCh37	CD073698	SLC26A4	D		.						251.0	232.0	238.0					7																	107315471		2203	4300	6503	SO:0001583	missense	5172	exon6	Familial Cancer Database	Goiter-Deafness syndrome	GCTGCTGCCTTCC	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.682G>T	chr7.hg19:g.107315471G>T	ENSP00000265715:p.Ala228Ser	108.0	0.0		310.0	23.0	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	hg19	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017519	0.93404	.	.	ENSG00000091137	ENST00000265715	D	0.96365	-3.99	5.41	5.41	0.78517	Sulphate transporter (1);	0.000000	0.64402	D	0.000001	D	0.97448	0.9165	L	0.53780	1.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96871	0.9639	10	0.35671	T	0.21	.	19.1848	0.93639	0.0:0.0:1.0:0.0	.	228	O43511	S26A4_HUMAN	S	228	ENSP00000265715:A228S	ENSP00000265715:A228S	A	+	1	0	SLC26A4	107102707	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.494000	0.81503	2.536000	0.85505	0.650000	0.86243	GCC	.	.		0.418	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
PCMTD1	115294	hgsc.bcm.edu	37	8	52733023	52733023	+	Missense_Mutation	SNP	T	T	C	rs114725410		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr8:52733023T>C	ENST00000360540.5	-	7	1368	c.962A>G	c.(961-963)aAt>aGt	p.N321S	PCMTD1_ENST00000544451.1_Missense_Mutation_p.N245S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N321S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	321						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATTGCTTCATTGTGAtcttt	0.388																																					p.N321S		Atlas-SNP	.											.	PCMTD1	73	.	0			c.A962G						.																																			SO:0001583	missense	115294	exon6			GCTTCATTGTGAT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.962A>G	chr8.hg19:g.52733023T>C	ENSP00000353739:p.Asn321Ser	162.0	0.0		754.0	40.0	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	hg19	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.817162	0.00595	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.42131	1.6;0.98;1.6	5.97	2.0	0.26442	.	1.095890	0.06623	N	0.757821	T	0.14743	0.0356	N	0.02011	-0.69	0.22552	N	0.998991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29549	-1.0008	10	0.10377	T	0.69	-34.7335	2.3892	0.04374	0.1206:0.4542:0.2261:0.1992	.	191;245;321	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	321;245;321	ENSP00000353739:N321S;ENSP00000444026:N245S;ENSP00000428099:N321S	ENSP00000353739:N321S	N	-	2	0	PCMTD1	52895576	0.883000	0.30277	0.240000	0.24138	0.035000	0.12851	0.110000	0.15437	0.419000	0.25927	-0.132000	0.14878	AAT	.	.		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
DCSTAMP	81501	hgsc.bcm.edu	37	8	105361088	105361088	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr8:105361088C>A	ENST00000297581.2	+	2	357	c.308C>A	c.(307-309)aCa>aAa	p.T103K	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T103K|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	103					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GCAGCTGGCACAGGGATCGTC	0.443																																					p.T103K		Atlas-SNP	.											.	.	.	.	0			c.C308A						.						65.0	63.0	64.0					8																	105361088		2203	4300	6503	SO:0001583	missense	81501	exon2			CTGGCACAGGGAT	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.308C>A	chr8.hg19:g.105361088C>A	ENSP00000297581:p.Thr103Lys	90.0	0.0		222.0	89.0	NM_001257317	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	hg19	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481689	0.84747	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.34859	1.34	5.84	5.84	0.93424	.	0.097167	0.64402	D	0.000001	T	0.59945	0.2231	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.55679	-0.8103	9	.	.	.	-18.0528	18.3185	0.90229	0.0:1.0:0.0:0.0	.	103	Q9H295	TM7S4_HUMAN	K	103	ENSP00000297581:T103K	.	T	+	2	0	TM7SF4	105430264	0.991000	0.36638	0.993000	0.49108	0.993000	0.82548	2.937000	0.48979	2.779000	0.95612	0.655000	0.94253	ACA	.	.		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
VPS13A	23230	hgsc.bcm.edu	37	9	79867172	79867172	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr9:79867172G>A	ENST00000360280.3	+	22	2452	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.R731Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R731Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R731Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	731					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAAGCACGAAAACTCAGT	0.353																																					p.R731Q		Atlas-SNP	.											VPS13A_ENST00000376634,caecum,carcinoma,0,3	VPS13A	735	.	0			c.G2192A						.						193.0	183.0	186.0					9																	79867172		2203	4300	6503	SO:0001583	missense	23230	exon22			AAGCACGAAAACT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2192G>A	chr9.hg19:g.79867172G>A	ENSP00000353422:p.Arg731Gln	61.0	0.0		139.0	64.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085841	0.94100	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.46	5.46	0.80206	.	0.148405	0.45606	D	0.000352	T	0.73305	0.3570	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.95;0.997;1.0;1.0	T	0.69172	-0.5215	10	0.17369	T	0.5	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	731;731;731;731	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	731	ENSP00000365821:R731Q;ENSP00000365823:R731Q;ENSP00000353422:R731Q;ENSP00000349985:R731Q	ENSP00000349985:R731Q	R	+	2	0	VPS13A	79056992	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.938000	0.87678	2.552000	0.86080	0.561000	0.74099	CGA	.	.		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
ASAH2	56624	hgsc.bcm.edu	37	10	52008360	52008360	+	Missense_Mutation	SNP	C	C	T	rs376205298		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr10:52008360C>T	ENST00000395526.4	-	1	10	c.11G>A	c.(10-12)cGc>cAc	p.R4H	ASAH2_ENST00000447815.1_Missense_Mutation_p.R4H|ASAH2_ENST00000329428.6_5'Flank	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	4					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						AGAGAAGGTGCGTTTGGCCAT	0.438																																					p.R4H		Atlas-SNP	.											.	ASAH2	69	.	0			c.G11A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	94.0	91.0	92.0		11,11	4.1	0.9	10		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASAH2	NM_001143974.1,NM_019893.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	4/746,4/781	52008360	1,13005	2203	4300	6503	SO:0001583	missense	56624	exon1			AAGGTGCGTTTGG	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.11G>A	chr10.hg19:g.52008360C>T	ENSP00000378897:p.Arg4His	65.0	0.0		104.0	37.0	NM_019893	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	hg19	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346638	0.41599	0.0	1.16E-4	ENSG00000188611	ENST00000395526;ENST00000447815	T;T	0.34859	1.38;1.34	5.94	4.1	0.47936	.	0.271361	0.30593	U	0.009284	T	0.26122	0.0637	L	0.31926	0.97	0.58432	D	0.999999	B;B	0.21821	0.061;0.036	B;B	0.13407	0.009;0.004	T	0.04307	-1.0961	10	0.40728	T	0.16	.	9.5095	0.39067	0.0:0.8371:0.0:0.1629	.	4;4	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	H	4	ENSP00000378897:R4H;ENSP00000388206:R4H	ENSP00000378897:R4H	R	-	2	0	ASAH2	51678366	0.002000	0.14202	0.876000	0.34364	0.987000	0.75469	0.461000	0.21940	0.852000	0.35287	0.563000	0.77884	CGC	.	.		0.438	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893	
EIF4G2	1982	hgsc.bcm.edu	37	11	10821282	10821282	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:10821282C>T	ENST00000526148.1	-	19	2651	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	EIF4G2_ENST00000396525.2_Missense_Mutation_p.R676H|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R714H|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R714H|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.R714H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCCAACATGCGGTCCTTATT	0.418																																					p.R714H		Atlas-SNP	.											EIF4G2,colon,carcinoma,0,2	EIF4G2	89	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2141A						.						103.0	99.0	100.0					11																	10821282		2201	4294	6495	SO:0001583	missense	1982	exon19			AACATGCGGTCCT	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2141G>A	chr11.hg19:g.10821282C>T	ENSP00000433664:p.Arg714His	55.0	0.0		112.0	18.0	NM_001172705		Missense_Mutation	SNP	ENST00000526148.1	hg19	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270710	0.80469	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000379653	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.71	5.71	0.89125	Armadillo-type fold (1);	0.107006	0.64402	D	0.000005	T	0.58293	0.2112	M	0.62266	1.93	0.47308	D	0.999387	D;D	0.89917	0.999;1.0	P;P	0.55508	0.665;0.777	T	0.57700	-0.7766	9	0.52906	T	0.07	-4.1326	19.8493	0.96733	0.0:1.0:0.0:0.0	.	714;787	P78344;B4DZF2	IF4G2_HUMAN;.	H	714;714;714;676;787;96	ENSP00000433664:R714H;ENSP00000433371:R714H;ENSP00000340281:R714H;ENSP00000379778:R676H	ENSP00000340281:R714H	R	-	2	0	EIF4G2	10777858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.022000	0.70839	2.701000	0.92244	0.563000	0.77884	CGC	.	.		0.418	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
NXF1	10482	hgsc.bcm.edu	37	11	62566040	62566040	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:62566040G>C	ENST00000532297.1	-	12	1653	c.1024C>G	c.(1024-1026)Cgc>Ggc	p.R342G	NXF1_ENST00000533048.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.R342G|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	342					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCGTTCGCGAATGGCGCTG	0.493																																					p.R342G		Atlas-SNP	.											.	NXF1	67	.	0			c.C1024G						.						143.0	133.0	136.0					11																	62566040		2201	4299	6500	SO:0001583	missense	10482	exon11			GTTCGCGAATGGC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1024C>G	chr11.hg19:g.62566040G>C	ENSP00000436679:p.Arg342Gly	49.0	0.0		99.0	49.0	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	hg19	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999048	0.74818	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.55760	0.5;0.5;0.5	5.77	5.77	0.91146	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.127200	0.53938	D	0.000042	T	0.77025	0.4070	M	0.89904	3.07	0.80722	D	1	P;D	0.89917	0.954;1.0	P;D	0.78314	0.612;0.991	T	0.76038	-0.3105	10	0.26408	T	0.33	-7.8345	17.535	0.87827	0.0:0.0:1.0:0.0	.	385;342	E9PIN3;Q9UBU9	.;NXF1_HUMAN	G	342;342;385	ENSP00000294172:R342G;ENSP00000436679:R342G;ENSP00000435742:R385G	ENSP00000294172:R342G	R	-	1	0	NXF1	62322616	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.605000	0.67634	2.751000	0.94390	0.650000	0.86243	CGC	.	.		0.493	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
MYO7A	4647	hgsc.bcm.edu	37	11	76917166	76917166	+	Silent	SNP	G	G	A	rs375627342		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:76917166G>A	ENST00000409709.3	+	41	5933	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.P1838P|MYO7A_ENST00000458637.2_Silent_p.P1849P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1887	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.		P -> L (in USH1B). {ECO:0000269|PubMed:10930322}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTACCCTCCGCACCTGGTGG	0.607																																					p.P1887P		Atlas-SNP	.											MYO7A,NS,carcinoma,0,1	MYO7A	164	.	0			c.G5661A						.		,	1,4047		0,1,2023	62.0	70.0	68.0		5661,5547	-9.1	0.5	11		68	0,8338		0,0,4169	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,1,6192	AA,AG,GG		0.0,0.0247,0.0081	,	1887/2216,1849/2176	76917166	1,12385	2024	4169	6193	SO:0001819	synonymous_variant	4647	exon41			CCCTCCGCACCTG	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5661G>A	chr11.hg19:g.76917166G>A		37.0	0.0		84.0	32.0	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	hg19	CCDS53683.1																																																																																			.	.		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
ROBO4	54538	hgsc.bcm.edu	37	11	124763622	124763622	+	Silent	SNP	C	C	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:124763622C>A	ENST00000306534.3	-	10	1994	c.1509G>T	c.(1507-1509)ctG>ctT	p.L503L	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.L358L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	503					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TATATCTGTACAGACCTGGGA	0.547																																					p.L503L		Atlas-SNP	.											.	ROBO4	130	.	0			c.G1509T						.						153.0	131.0	139.0					11																	124763622		2201	4299	6500	SO:0001819	synonymous_variant	54538	exon10			TCTGTACAGACCT	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1509G>T	chr11.hg19:g.124763622C>A		93.0	0.0		283.0	106.0	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	hg19	CCDS8455.1																																																																																			.	.		0.547	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
NCAPD3	23310	hgsc.bcm.edu	37	11	134029862	134029862	+	Silent	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:134029862G>A	ENST00000534548.2	-	29	3856	c.3792C>T	c.(3790-3792)gtC>gtT	p.V1264V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1264					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTGCTCCTGGACCAGCTGTT	0.552																																					p.V1264V		Atlas-SNP	.											.	NCAPD3	141	.	0			c.C3792T						.						143.0	115.0	124.0					11																	134029862		2201	4297	6498	SO:0001819	synonymous_variant	23310	exon29			CTCCTGGACCAGC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3792C>T	chr11.hg19:g.134029862G>A		43.0	0.0		117.0	60.0	NM_015261	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	hg19	CCDS31723.1																																																																																			.	.		0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
PTPRQ	374462	hgsc.bcm.edu	37	12	80865968	80865968	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr12:80865968C>T	ENST00000266688.5	+	13	1112	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	417	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						GTCTATATTGCGGCTGAAACC	0.408																																					p.A203V		Atlas-SNP	.											.	PTPRQ	119	.	0			c.C608T						.						109.0	90.0	96.0					12																	80865968		692	1591	2283	SO:0001583	missense	374462	exon5			ATATTGCGGCTGA	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1112C>T	chr12.hg19:g.80865968C>T	ENSP00000266688:p.Ala371Val	61.0	0.0		125.0	5.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.811610|1.811610	0.32053|0.32053	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	T|.	0.57752|.	0.38|.	5.44|5.44	3.47|3.47	0.39725|0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.52224|0.52224	0.1721|0.1721	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.54397|.	0.966|.	B|.	0.35114|.	0.196|.	T|T	0.47761|0.47761	-0.9092|-0.9092	8|4	0.12766|.	T|.	0.61|.	.|.	17.1345|17.1345	0.86735|0.86735	0.0:0.6268:0.3732:0.0|0.0:0.6268:0.3732:0.0	.|.	417|.	Q9UMZ3|.	PTPRQ_HUMAN|.	V|W	371|72	ENSP00000266688:A371V|.	ENSP00000266688:A371V|.	A|R	+|+	2|1	0|2	PTPRQ|PTPRQ	79390099|79390099	0.037000|0.037000	0.19845|0.19845	0.209000|0.209000	0.23619|0.23619	0.785000|0.785000	0.44390|0.44390	1.135000|1.135000	0.31454|0.31454	1.398000|1.398000	0.46701|0.46701	0.650000|0.650000	0.86243|0.86243	GCG|CGG	.	.		0.408	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
ZBTB1	22890	hgsc.bcm.edu	37	14	64989700	64989700	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr14:64989700A>G	ENST00000554015.1	+	4	1909	c.1478A>G	c.(1477-1479)aAt>aGt	p.N493S	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Missense_Mutation_p.N493S|ZBTB1_ENST00000394712.2_Missense_Mutation_p.N493S			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	493					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TTGGAAGAGAATCCTGATGAG	0.418																																					p.N493S		Atlas-SNP	.											.	ZBTB1	93	.	0			c.A1478G						.						107.0	107.0	107.0					14																	64989700		2203	4300	6503	SO:0001583	missense	22890	exon2			AAGAGAATCCTGA	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1478A>G	chr14.hg19:g.64989700A>G	ENSP00000451000:p.Asn493Ser	50.0	0.0		98.0	44.0	NM_014950	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	hg19	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	9.080	0.999089	0.19121	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10288	2.89;3.45;2.89	6.03	6.03	0.97812	.	0.754534	0.13075	N	0.415753	T	0.08492	0.0211	N	0.24115	0.695	0.31274	N	0.691353	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.04427	-1.0952	10	0.62326	D	0.03	-25.5236	7.5825	0.27974	0.7872:0.1426:0.0702:0.0	.	493;493	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	S	493	ENSP00000451000:N493S;ENSP00000351587:N493S;ENSP00000378201:N493S	ENSP00000351587:N493S	N	+	2	0	ZBTB1	64059453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.408000	0.59761	2.308000	0.77769	0.533000	0.62120	AAT	.	.		0.418	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1		
ZDHHC22	283576	hgsc.bcm.edu	37	14	77606003	77606003	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr14:77606003G>A	ENST00000319374.4	-	2	281	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	27					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AAGAGGAAGAGCTGCAGCACG	0.667											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L27F		Atlas-SNP	.											.	ZDHHC22	30	.	0			c.C79T						.						10.0	13.0	12.0					14																	77606003		2096	4206	6302	SO:0001583	missense	283576	exon2			GGAAGAGCTGCAG	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.79C>T	chr14.hg19:g.77606003G>A	ENSP00000318222:p.Leu27Phe	26.0	0.0	1177	57.0	20.0	NM_174976	A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	hg19	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765692	0.49574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.58652	0.32	5.67	5.67	0.87782	.	0.128302	0.53938	D	0.000046	T	0.36717	0.0977	N	0.08118	0	0.40340	D	0.979024	B	0.17038	0.02	B	0.10450	0.005	T	0.25082	-1.0142	10	0.21540	T	0.41	.	13.8634	0.63574	0.0:0.0:0.8382:0.1617	.	27	Q8N966	ZDH22_HUMAN	F	27	ENSP00000318222:L27F	ENSP00000318222:L27F	L	-	1	0	ZDHHC22	76675756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.584000	0.53936	2.677000	0.91161	0.561000	0.74099	CTC	.	.		0.667	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976	
STON2	85439	hgsc.bcm.edu	37	14	81744756	81744756	+	Missense_Mutation	SNP	G	G	A	rs201611443		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr14:81744756G>A	ENST00000267540.2	-	4	1099	c.899C>T	c.(898-900)aCg>aTg	p.T300M	STON2_ENST00000555447.1_Missense_Mutation_p.T300M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	300					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TACAGAAGGCGTGCGGTTTAA	0.468																																					p.T300M		Atlas-SNP	.											STON2,NS,carcinoma,0,2	STON2	94	.	0			c.C899T						.	G	MET/THR	0,4406		0,0,2203	112.0	115.0	114.0		899	4.3	0.0	14		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	STON2	NM_033104.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	300/906	81744756	2,13004	2203	4300	6503	SO:0001583	missense	85439	exon6			GAAGGCGTGCGGT	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.899C>T	chr14.hg19:g.81744756G>A	ENSP00000267540:p.Thr300Met	61.0	0.0		118.0	15.0	NM_001256430	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	hg19	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571785	0.03882	0.0	2.33E-4	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.48836	0.8;0.8	6.17	4.34	0.51931	Stonin-2, N-terminal (1);	0.666605	0.15615	N	0.253176	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	P;P	0.44344	0.711;0.833	B;B	0.34093	0.175;0.109	T	0.09122	-1.0689	10	0.46703	T	0.11	-10.8204	4.5608	0.12160	0.1776:0.0:0.5212:0.3011	.	300;300	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	300;312;300	ENSP00000450857:T300M;ENSP00000267540:T300M	ENSP00000267540:T300M	T	-	2	0	STON2	80814509	0.011000	0.17503	0.032000	0.17829	0.013000	0.08279	0.914000	0.28624	0.918000	0.36919	-0.126000	0.14955	ACG	.	.		0.468	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
RTL1	388015	hgsc.bcm.edu	37	14	101348750	101348750	+	Silent	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr14:101348750G>A	ENST00000534062.1	-	1	2434	c.2376C>T	c.(2374-2376)aaC>aaT	p.N792N	MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	792					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGTCATGACGTTCTTGTTCA	0.547																																					p.N792N		Atlas-SNP	.											.	RTL1	120	.	0			c.C2376T						.						195.0	182.0	186.0					14																	101348750		692	1591	2283	SO:0001819	synonymous_variant	388015	exon1			CATGACGTTCTTG		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2376C>T	chr14.hg19:g.101348750G>A		56.0	0.0		159.0	69.0	NM_001134888	E9PKS8	Silent	SNP	ENST00000534062.1	hg19	CCDS53910.1																																																																																			.	.		0.547	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
PACS2	23241	hgsc.bcm.edu	37	14	105858084	105858084	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr14:105858084G>A	ENST00000325438.8	+	21	2695	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	PACS2_ENST00000551743.1_Missense_Mutation_p.G245R|PACS2_ENST00000547217.1_Missense_Mutation_p.G701R|PACS2_ENST00000551801.1_5'UTR|PACS2_ENST00000447393.1_Missense_Mutation_p.G735R|PACS2_ENST00000430725.2_Missense_Mutation_p.G656R|PACS2_ENST00000458164.2_Missense_Mutation_p.G746R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	731					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GTCGGTGAGCGGAGGCCTGTC	0.682																																					p.G746R		Atlas-SNP	.											.	PACS2	75	.	0			c.G2236A						.						15.0	16.0	16.0					14																	105858084		2190	4289	6479	SO:0001583	missense	23241	exon22			GTGAGCGGAGGCC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2191G>A	chr14.hg19:g.105858084G>A	ENSP00000321834:p.Gly731Arg	19.0	0.0		80.0	28.0	NM_001100913	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	hg19	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482761	0.63962	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.71	2.84	0.33178	.	0.477834	0.22074	N	0.064997	T	0.38852	0.1056	N	0.14661	0.345	0.31163	N	0.70415	D;D;D;D	0.71674	0.985;0.982;0.998;0.985	P;P;D;P	0.64506	0.647;0.592;0.926;0.498	T	0.34254	-0.9836	10	0.17832	T	0.49	-12.5467	9.7367	0.40392	0.1761:0.0:0.8239:0.0	.	735;746;731;732	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	656;731;746;735;701;245	ENSP00000393524:G656R;ENSP00000321834:G731R;ENSP00000399732:G746R;ENSP00000393559:G735R;ENSP00000449525:G701R;ENSP00000449254:G245R	ENSP00000321834:G731R	G	+	1	0	PACS2	104929129	0.678000	0.27586	0.894000	0.35097	0.938000	0.57974	1.005000	0.29834	0.389000	0.25086	0.462000	0.41574	GGA	.	.		0.682	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355	
TJP1	7082	hgsc.bcm.edu	37	15	30012108	30012108	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr15:30012108G>A	ENST00000346128.6	-	20	3350	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Missense_Mutation_p.P959L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	959					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCTGGGGTGGGCTCCTCCAG	0.443																																					p.P959L	Melanoma(77;681 1843 6309 6570)	Atlas-SNP	.											.	TJP1	140	.	0			c.C2876T						.						139.0	135.0	136.0					15																	30012108		1923	4119	6042	SO:0001583	missense	7082	exon20			GGGGTGGGCTCCT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2876C>T	chr15.hg19:g.30012108G>A	ENSP00000281537:p.Pro959Leu	93.0	0.0		268.0	119.0	NM_003257	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328456	0.41197	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.07444	3.19	6.03	4.17	0.49024	.	0.111162	0.64402	N	0.000007	T	0.10465	0.0256	L	0.55103	1.725	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.04229	-1.0967	10	0.41790	T	0.15	.	13.0562	0.58982	0.13:0.0:0.87:0.0	.	952;959	A9CQZ8;Q07157	.;ZO1_HUMAN	L	959	ENSP00000281537:P959L	ENSP00000281537:P959L	P	-	2	0	TJP1	27799400	1.000000	0.71417	0.814000	0.32528	0.996000	0.88848	3.536000	0.53582	0.890000	0.36211	0.655000	0.94253	CCC	.	.		0.443	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
BRD7	29117	hgsc.bcm.edu	37	16	50357576	50357576	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr16:50357576A>C	ENST00000394688.3	-	12	1524	c.1365T>G	c.(1363-1365)taT>taG	p.Y455*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.Y455*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	455					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGACATACGGATAATCTTGGC	0.443																																					p.Y455X		Atlas-SNP	.											BRD7,NS,carcinoma,0,1	BRD7	61	.	0			c.T1365G						.						108.0	91.0	97.0					16																	50357576		2198	4300	6498	SO:0001587	stop_gained	29117	exon12			ATACGGATAATCT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1365T>G	chr16.hg19:g.50357576A>C	ENSP00000378180:p.Tyr455*	55.0	0.0		68.0	46.0	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	ENST00000394688.3	hg19	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	A	37	6.084326	0.97267	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.53	-0.728	0.11162	.	0.187371	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.8448	7.115	0.25411	0.3973:0.0:0.4736:0.129	.	.	.	.	X	455	.	ENSP00000378180:Y455X	Y	-	3	2	BRD7	48915077	0.990000	0.36364	0.914000	0.36105	0.920000	0.55202	0.345000	0.19979	-0.161000	0.10983	0.533000	0.62120	TAT	.	.		0.443	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
ITGB3	3690	hgsc.bcm.edu	37	17	45387555	45387555	+	Silent	SNP	G	G	C	rs565628822		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr17:45387555G>C	ENST00000559488.1	+	15	2368	c.2352G>C	c.(2350-2352)acG>acC	p.T784T	ITGB3_ENST00000435993.2_Intron|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Intron	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	784					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CCAATATCACGTACCGGGGCA	0.468																																					p.T784T		Atlas-SNP	.											.	ITGB3	157	.	0			c.G2352C						.						177.0	137.0	151.0					17																	45387555		2203	4300	6503	SO:0001819	synonymous_variant	3690	exon15			TATCACGTACCGG		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2352G>C	chr17.hg19:g.45387555G>C		76.0	0.0		237.0	100.0	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	hg19	CCDS11511.1																																																																																			.	.		0.468	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
EPN3	55040	hgsc.bcm.edu	37	17	48614425	48614425	+	Missense_Mutation	SNP	C	C	T	rs146173668	byFrequency	TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr17:48614425C>T	ENST00000268933.3	+	2	1087	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.R225C|EPN3_ENST00000541226.1_Missense_Mutation_p.R114C	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	170						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGGCTTCAGCCGCCGCTACGG	0.682													C|||	4	0.000798722	0.0015	0.0	5008	,	,		15206	0.0		0.002	False		,,,				2504	0.0				p.R170C		Atlas-SNP	.											.	EPN3	32	.	0			c.C508T						.	C	CYS/ARG	0,4292		0,0,2146	17.0	15.0	16.0		508	5.2	1.0	17	dbSNP_134	16	1,8445		0,1,4222	no	missense	EPN3	NM_017957.2	180	0,1,6368	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	170/633	48614425	1,12737	2146	4223	6369	SO:0001583	missense	55040	exon2			TTCAGCCGCCGCT	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.508C>T	chr17.hg19:g.48614425C>T	ENSP00000268933:p.Arg170Cys	14.0	0.0		44.0	19.0	NM_017957	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171748	0.78452	0.0	1.18E-4	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.50813	2.33;2.22;0.73	5.24	5.24	0.73138	.	0.659654	0.11791	N	0.529152	T	0.68210	0.2976	L	0.58810	1.83	0.48901	D	0.999725	D;D;D	0.89917	1.0;1.0;0.961	D;D;P	0.91635	0.972;0.999;0.586	T	0.64799	-0.6322	10	0.49607	T	0.09	-18.696	18.4459	0.90683	0.0:1.0:0.0:0.0	.	225;225;170	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	C	170;225;225;114;170	ENSP00000268933:R170C;ENSP00000439512:R225C;ENSP00000440540:R114C	ENSP00000268933:R170C	R	+	1	0	EPN3	45969424	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.620000	0.36976	2.457000	0.83068	0.561000	0.74099	CGC	.	C|1.000;T|0.000		0.682	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957	
TOM1L1	10040	hgsc.bcm.edu	37	17	52991114	52991114	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr17:52991114G>C	ENST00000575882.1	+	5	731	c.378G>C	c.(376-378)tgG>tgC	p.W126C	TOM1L1_ENST00000572405.1_Missense_Mutation_p.W91C|TOM1L1_ENST00000570371.1_Missense_Mutation_p.W126C|TOM1L1_ENST00000445275.2_Missense_Mutation_p.W126C|TOM1L1_ENST00000536554.1_Missense_Mutation_p.W49C|TOM1L1_ENST00000348161.4_Missense_Mutation_p.W49C|TOM1L1_ENST00000575333.1_Missense_Mutation_p.W126C|TOM1L1_ENST00000572158.1_Missense_Mutation_p.W119C|TOM1L1_ENST00000540336.1_Missense_Mutation_p.W49C	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	126	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTCAGACTTGGTCACAGGGCT	0.403																																					p.W126C		Atlas-SNP	.											.	TOM1L1	33	.	0			c.G378C						.						99.0	96.0	97.0					17																	52991114		2203	4300	6503	SO:0001583	missense	10040	exon5			GACTTGGTCACAG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.378G>C	chr17.hg19:g.52991114G>C	ENSP00000460823:p.Trp126Cys	69.0	0.0		146.0	69.0	NM_005486	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	hg19	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765230	0.49574	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.44	4.48	0.54585	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.64402	D	0.000006	T	0.71247	0.3317	M	0.92784	3.345	0.80722	D	1	B;P;P;P;D;P	0.89917	0.44;0.869;0.685;0.869;1.0;0.473	B;P;B;P;D;B	0.97110	0.209;0.621;0.347;0.545;1.0;0.347	T	0.78700	-0.2102	10	0.66056	D	0.02	-6.0111	13.5452	0.61699	0.0:0.0:0.8428:0.1572	.	49;119;49;126;126;49	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	C	126;49;49;49	ENSP00000408958:W126C;ENSP00000441242:W49C;ENSP00000343901:W49C;ENSP00000443099:W49C	ENSP00000343901:W49C	W	+	3	0	TOM1L1	50346113	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.082000	0.57635	1.305000	0.44909	-0.224000	0.12420	TGG	.	.		0.403	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	
PSMC5	5705	hgsc.bcm.edu	37	17	61908431	61908431	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr17:61908431C>T	ENST00000310144.6	+	8	1023	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	PSMC5_ENST00000581882.1_Missense_Mutation_p.R231W|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Missense_Mutation_p.R231W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R231W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	239	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGTCATGGCACGGGAACATGC	0.567																																					p.R239W		Atlas-SNP	.											.	PSMC5	41	.	0			c.C715T						.						84.0	81.0	82.0					17																	61908431		2203	4300	6503	SO:0001583	missense	5705	exon8			ATGGCACGGGAAC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.715C>T	chr17.hg19:g.61908431C>T	ENSP00000310572:p.Arg239Trp	51.0	0.0		118.0	34.0	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	hg19	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525518	0.64860	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.93859	-3.3;-3.3	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98241	1.0488	10	0.87932	D	0	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	231;239	A8K3Z3;P62195	.;PRS8_HUMAN	W	239;231	ENSP00000310572:R239W;ENSP00000364970:R231W	ENSP00000310572:R239W	R	+	1	2	PSMC5	59262163	0.089000	0.21612	0.993000	0.49108	0.817000	0.46193	0.559000	0.23485	2.937000	0.99478	0.650000	0.86243	CGG	.	.		0.567	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
POTEC	388468	hgsc.bcm.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs532182918|rs45626231	byFrequency	TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr18:14543063A>C	ENST00000358970.5	-	1	82	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547													.|||	49	0.00978435	0.0045	0.0058	5008	,	,		19360	0.0218		0.0099	False		,,,				2504	0.0072				p.F28C		Atlas-SNP	.											.	POTEC	129	.	0			c.T83G						.						130.0	111.0	117.0					18																	14543063		692	1591	2283	SO:0001583	missense	388468	exon1			TGGTGAAACCACT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.83T>G	chr18.hg19:g.14543063A>C	ENSP00000351856:p.Phe28Cys	130.0	0.0		607.0	28.0	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	hg19	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.959302	0.00049	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22134	1.97	0.481	-0.963	0.10330	.	.	.	.	.	T	0.03608	0.0103	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	8	0.02654	T	1	.	.	.	.	rs45626231	28	B2RU33	POTEC_HUMAN	C	28	ENSP00000351856:F28C	ENSP00000351856:F28C	F	-	2	0	POTEC	14533063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.112000	0.00599	-1.794000	0.01256	-1.119000	0.02030	TTT	.	A|1.000;|0.000		0.547	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
MAPK4	5596	hgsc.bcm.edu	37	18	48190630	48190630	+	Missense_Mutation	SNP	C	C	T	rs556250636		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr18:48190630C>T	ENST00000400384.2	+	2	1338	c.302C>T	c.(301-303)gCg>gTg	p.A101V	MAPK4_ENST00000592595.1_Missense_Mutation_p.A101V|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A101V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCAGCGTGGCGTACATCGTC	0.592																																					p.A101V		Atlas-SNP	.											.	MAPK4	75	.	0			c.C302T						.						78.0	80.0	79.0					18																	48190630		2199	4293	6492	SO:0001583	missense	5596	exon2			GCGTGGCGTACAT	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.302C>T	chr18.hg19:g.48190630C>T	ENSP00000383234:p.Ala101Val	15.0	0.0		36.0	14.0	NM_002747	A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	hg19	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	8.290	0.817600	0.16607	.	.	ENSG00000141639	ENST00000400384	T	0.63744	-0.06	5.87	4.08	0.47627	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112351	0.45126	D	0.000386	T	0.19725	0.0474	N	0.00332	-1.63	0.38982	D	0.95897	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.35025	-0.9805	10	0.02654	T	1	-4.275	6.5478	0.22416	0.0:0.6886:0.0:0.3114	.	101;101	Q0VG04;P31152	.;MK04_HUMAN	V	101	ENSP00000383234:A101V	ENSP00000383234:A101V	A	+	2	0	MAPK4	46444628	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.845000	0.62853	1.491000	0.48482	0.561000	0.74099	GCG	.	.		0.592	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747	
RPS6KA3	6197	hgsc.bcm.edu	37	X	20252926	20252926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chrX:20252926G>A	ENST00000379565.3	-	2	283	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	RPS6KA3_ENST00000544447.1_5'UTR|RPS6KA3_ENST00000540702.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	26					axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATAATTTGCTGTCCATTCTGT	0.338																																					p.Q26X		Atlas-SNP	.											.	RPS6KA3	110	.	0			c.C76T						.						93.0	77.0	83.0					X																	20252926		2203	4300	6503	SO:0001587	stop_gained	6197	exon2			TTTGCTGTCCATT	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.76C>T	chrX.hg19:g.20252926G>A	ENSP00000368884:p.Gln26*	108.0	0.0		243.0	204.0	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Nonsense_Mutation	SNP	ENST00000379565.3	hg19	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	37	6.183972	0.97357	.	.	ENSG00000177189	ENST00000379565	.	.	.	5.31	5.31	0.75309	.	0.484849	0.20103	N	0.099190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.3469	0.60578	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000368884:Q26X	Q	-	1	0	RPS6KA3	20162847	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.349000	0.66010	2.213000	0.71641	0.594000	0.82650	CAG	.	.		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
MT-ATP6	4508	hgsc.bcm.edu	37	M	9182	9182	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chrM:9182G>A	ENST00000361899.2	+	1	656	c.656G>A	c.(655-657)aGc>aAc	p.S219N	MT-ND4L_ENST00000361335.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TD_ENST00000387419.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	219			S -> G. {ECO:0000269|PubMed:1757091}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ACTTCTAGTAAGCCTCTACCT	0.463																																					p.S219N		Atlas-SNP	.											.	.	.	.	0			c.G656A						.																																			SO:0001583	missense	0	exon1			TAGTAAGCCTCTA			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.656G>A	chrM.hg19:g.9182G>A	ENSP00000354632:p.Ser219Asn	25.0	0.0		156.0	148.0	ENST00000361899	Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	hg19																																																																																				.	.		0.463	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031	
MCL1	4170	hgsc.bcm.edu	37	1	150551926	150551927	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr1:150551926_150551927insC	ENST00000369026.2	-	1	139_140	c.80_81insG	c.(79-81)ggcfs	p.G27fs	MCL1_ENST00000307940.3_Frame_Shift_Ins_p.G27fs|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	27					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCGGGTGGCGCCGCCGCTGCC	0.703																																					p.G27fs		Atlas-INDEL	.											.	MCL1	27	.	0			c.81_82insG						.																																			SO:0001589	frameshift_variant	4170	exon1			.	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.81dupG	chr1.hg19:g.150551928_150551928dupC	ENSP00000358022:p.Gly27fs	13.0	0.0		209.0	13.0	NM_021960	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Frame_Shift_Ins	INS	ENST00000369026.2	hg19	CCDS957.1																																																																																			.	.		0.703	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960	
ARID1A	8289	hgsc.bcm.edu	37	1	27106893	27106894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr1:27106893_27106894insT	ENST00000324856.7	+	20	6875_6876	c.6504_6505insT	c.(6505-6507)gtafs	p.V2169fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1952fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1786fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V497fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2169					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGATGGCTGTGGTACTGCTGGC	0.609			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.V2168fs		Atlas-Indel,Pindel	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.6504_6505insT						.																																			SO:0001589	frameshift_variant	8289	exon20			.	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	Exception_encountered	chr1.hg19:g.27106893_27106894insT	ENSP00000320485:p.Val2169fs	49.0	0.0		73.0	16.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	hg19	CCDS285.1																																																																																			.	.		0.609	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
HEG1	57493	hgsc.bcm.edu	37	3	124732433	124732434	+	In_Frame_Ins	INS	-	-	AGAGGAGGAGGAGGAGGA	rs374949821		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr3:124732433_124732434insAGAGGAGGAGGAGGAGGA	ENST00000311127.4	-	6	2056_2057	c.1989_1990insTCCTCCTCCTCCTCCTCT	c.(1987-1992)tcttcc>tctTCCTCCTCCTCCTCCTCTtcc	p.663_664SS>SSSSSSSS	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	663	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						gaggaggaggaagaggaggagg	0.49																																					p.S664delinsSSSSSSS		Atlas-INDEL	.											.	HEG1	109	.	0			c.1990_1991insTCCTCCTCCTCCTCCTCT						.																																			SO:0001652	inframe_insertion	57493	exon6			.	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1989_1990insTCCTCCTCCTCCTCCTCT	chr3.hg19:g.124732433_124732434insAGAGGAGGAGGAGGAGGA	ENSP00000311502:p.Ser669_Ser670dup	36.0	0.0		102.0	14.0	NM_020733	Q6NX66|Q8NC40|Q9BSV0	In_Frame_Ins	INS	ENST00000311127.4	hg19	CCDS46898.1																																																																																			.	.		0.490	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
IQCA1	79781	hgsc.bcm.edu	37	2	237300683	237300683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr2:237300683delT	ENST00000409907.3	-	11	1623	c.1349delA	c.(1348-1350)aacfs	p.N450fs	IQCA1_ENST00000309507.5_Frame_Shift_Del_p.N446fs|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Frame_Shift_Del_p.N409fs|IQCA1_ENST00000465621.1_5'Flank	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	450	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAGCTTTAAGTTTTTAAGTTC	0.438																																					p.N457fs		Atlas-Indel,Pindel	.											.	IQCA1	170	.	0			c.1371delC						.						169.0	171.0	170.0					2																	237300683		1868	4103	5971	SO:0001589	frameshift_variant	79781	exon11			.	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1349delA	chr2.hg19:g.237300683delT	ENSP00000387347:p.Asn450fs	114.0	0.0		340.0	149.0	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Frame_Shift_Del	DEL	ENST00000409907.3	hg19	CCDS46549.1																																																																																			.	.		0.438	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
FAM205A	259308	hgsc.bcm.edu	37	9	34723290	34723291	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr9:34723290_34723291insG	ENST00000378788.3	-	4	3985_3986	c.3946_3947insC	c.(3946-3948)cgcfs	p.R1316fs		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	1316						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						AGGGCAGTGGCGGGGGTAGCCC	0.609																																					p.R1316fs		Atlas-INDEL	.											.	FAM205A	45	.	0			c.3947_3948insC						.																																			SO:0001589	frameshift_variant	259308	exon4			.		CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.3947dupC	chr9.hg19:g.34723295_34723295dupG	ENSP00000417711:p.Arg1316fs	46.0	0.0		140.0	10.0	NM_001141917	A8MVW7	Frame_Shift_Ins	INS	ENST00000378788.3	hg19	CCDS55305.1																																																																																			.	.		0.609	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001150.2	NM_001141917	
HIVEP1	3096	hgsc.bcm.edu	37	6	12125147	12125148	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr6:12125147_12125148insA	ENST00000379388.2	+	4	5451_5452	c.5119_5120insA	c.(5119-5121)gaafs	p.E1707fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1707					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTTCTATGTGAAAATGTTTTT	0.376																																					p.E1707fs		Atlas-Indel,Pindel	.											.	HIVEP1	242	.	0			c.5119_5120insA						.																																			SO:0001589	frameshift_variant	3096	exon4			.	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5123dupA	chr6.hg19:g.12125151_12125151dupA	ENSP00000368698:p.Glu1707fs	63.0	0.0		246.0	43.0	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	ENST00000379388.2	hg19	CCDS43426.1																																																																																			.	.		0.376	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
DONSON	29980	hgsc.bcm.edu	37	21	34956952	34956953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr21:34956952_34956953insC	ENST00000303071.5	-	4	794_795	c.728_729insG	c.(727-729)ggafs	p.G243fs	DONSON_ENST00000303113.6_Frame_Shift_Ins_p.G229fs|DONSON_ENST00000453626.1_Frame_Shift_Ins_p.G243fs|DONSON_ENST00000432378.1_Frame_Shift_Ins_p.G243fs	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	243					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GACTTGTCTTTCCAGCCATTTT	0.421																																					p.G243fs		Atlas-INDEL	.											.	DONSON	34	.	0			c.729_730insG						.																																			SO:0001589	frameshift_variant	29980	exon4			.	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.729dupG	chr21.hg19:g.34956954_34956954dupC	ENSP00000307143:p.Gly243fs	66.0	0.0		172.0	11.0	NM_017613	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Frame_Shift_Ins	INS	ENST00000303071.5	hg19	CCDS13632.1																																																																																			.	.		0.421	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	
AXIN1	8312	hgsc.bcm.edu	37	16	347071	347072	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr16:347071_347072insG	ENST00000262320.3	-	7	2310_2311	c.1939_1940insC	c.(1939-1941)cgcfs	p.R647fs	AXIN1_ENST00000354866.3_Frame_Shift_Ins_p.R647fs|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	647	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.R647C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCGGTCCTGCGGTGCCTGCTG	0.639																																					p.R647fs		Atlas-Indel,Pindel	.											.	AXIN1	290	.	1	Substitution - Missense(1)	endometrium(1)	c.1940_1941insC						.																																			SO:0001589	frameshift_variant	8312	exon7			.	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1940dupC	chr16.hg19:g.347073_347073dupG	ENSP00000262320:p.Arg647fs	36.0	0.0		66.0	48.0	NM_003502	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Ins	INS	ENST00000262320.3	hg19	CCDS10405.1																																																																																			.	.		0.639	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
NCAM1	4684	hgsc.bcm.edu	37	11	112832332	112832363	+	5'UTR	DEL	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	-	rs6589347|rs11284059|rs559828324|rs201772924|rs563686839|rs7105734|rs112306738		TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	CATCCCTCCCAGCCAGCAGATTACAATGCTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr11:112832332_112832363delCATCCCTCCCAGCCAGCAGATTACAATGCTGC	ENST00000533760.1	+	0	243_274				NCAM1_ENST00000397957.4_3'UTR|RP11-629G13.1_ENST00000532002.1_RNA|RP11-629G13.1_ENST00000500537.2_RNA	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGCAGATTACAATGCTGCCAAACTAAGGATTTCATTTGGACTTTGTTTTTC	0.491																																					.		Pindel	.											.	NCAM1	372	.	0			.						.																																			SO:0001623	5_prime_UTR_variant	4684	wholegene			.		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.-326CATCCCTCCCAGCCAGCAGATTACAATGCTGC>-	chr11.hg19:g.112832332_112832363delCATCCCTCCCAGCCAGCAGATTACAATGCTGC		0.0	0.0		26.0	26.0	NM_001242608	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Del	DEL	ENST00000533760.1	hg19																																																																																				.	.		0.491	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
CELA1	1990	hgsc.bcm.edu	37	12	51740405	51740433	+	Start_Codon_Del	DEL	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	-	rs150350903|rs573952082|rs201074609|rs141305161|rs117443541|rs377599213|rs143199509|rs61761206|rs148235680|rs370927847|rs148270827|rs116944010|rs386762976|rs149358345|rs55827519	byFrequency	TCGA-DD-A1EH-01A-11D-A12Z-10	TCGA-DD-A1EH-10A-01D-A12Z-10	CTGGACCATATCCACTTACCATAAAGGAC	CTGGACCATATCCACTTACCATAAAGGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b9f03936-1de5-4330-8b0f-6d0ab533876e	47c44a9a-cfe6-4305-a9ea-b0fb5f2b5137	g.chr12:51740405_51740433delCTGGACCATATCCACTTACCATAAAGGAC	ENST00000293636.1	-	0	30_57					NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1						exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V3fs*21(1)|p.L4P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						ATATCCACTTACCATAAAGGACCAGCATGTTGCCGATGGAGTAGACCAC	0.524																																					p.3_6del		Pindel	.											.	CELA1	39	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.8_16del						.																																			SO:0001582	initiator_codon_variant	1990	exon1			.		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523		chr12.hg19:g.51740405_51740433delCTGGACCATATCCACTTACCATAAAGGAC		0.0	0.0		28.0	28.0	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	In_Frame_Del	DEL	ENST00000293636.1	hg19	CCDS8812.1																																																																																			.	-|0.574;CACCAGGAAGCG|0.426		0.524	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
