#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_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_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_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_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
NOL9	79707	hgsc.bcm.edu	37	1	6614391	6614391	+	Missense_Mutation	SNP	A	A	C	rs6693391	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:6614391A>C	ENST00000377705.5	-	1	204	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000351136.3_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	58			S -> A (in dbSNP:rs6693391). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACGCCGGACGCCTGGGCT	0.781													C|||	4789	0.95627	0.8722	0.9841	5008	,	,		9026	0.9692		0.995	False		,,,				2504	0.9969				p.S58A		.											.	NOL9-515	0			c.T172G						.	C	ALA/SER	2196,260		975,246,7	2.0	3.0	3.0		172	3.0	0.2	1	dbSNP_116	3	4875,25		2425,25,0	no	missense	NOL9	NM_024654.4	99	3400,271,7	CC,CA,AA		0.5102,10.5863,3.8744	benign	58/703	6614391	7071,285	1228	2450	3678	SO:0001583	missense	79707	exon1			CGCCGGACGCCTG	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.172T>G	1.37:g.6614391A>C	ENSP00000366934:p.Ser58Ala	0	0		6	6	NM_024654	0	0	0	0	0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	2092	0.9578754578754579	421	0.8556910569105691	355	0.9806629834254144	562	0.9825174825174825	754	0.9947229551451188	C	0.416	-0.910621	0.02434	0.894137	0.994898	ENSG00000162408	ENST00000377705	T	0.15718	2.4	4.0	3.05	0.35203	.	0.361559	0.20066	N	0.099972	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.02654	T	1	-12.1681	8.8998	0.35487	0.424:0.576:0.0:0.0	rs6693391;rs56691058	58	Q5SY16	NOL9_HUMAN	A	58	ENSP00000366934:S58A	ENSP00000366934:S58A	S	-	1	0	NOL9	6536978	0.795000	0.28851	0.220000	0.23810	0.044000	0.14063	0.592000	0.23984	0.422000	0.26005	-0.285000	0.09966	TCC	A|0.047;C|0.953		0.781	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
PER3	8863	ucsc.edu	37	1	7890055	7890055	+	Silent	SNP	T	T	A	rs11121034	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:7890055T>A	ENST00000361923.2	+	18	3196	c.3021T>A	c.(3019-3021)gcT>gcA	p.A1007A	PER3_ENST00000377532.3_Silent_p.A1016A|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1007	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.		A -> T (in dbSNP:rs1776342).|Missing (associated with eveningness and better cognitive performance during sleep deprivation exepriments; dbSNP:rs57875989).		circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCAGCGCTCTGTCCACAG	0.587																																					p.A1007A		.											.	PER3-93	0			c.T3021A						.						90.0	71.0	77.0					1																	7890055		1995	3900	5895	SO:0001819	synonymous_variant	8863	exon18			CAGCGCTCTGTCC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3021T>A	1.37:g.7890055T>A		108	2		68	8	NM_016831	0	0	4	4	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	CCDS89.1																																																																																			T|0.954;A|0.046		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
TMEM201	199953	hgsc.bcm.edu	37	1	9667767	9667767	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:9667767G>T	ENST00000340381.6	+	7	1322	c.1313G>T	c.(1312-1314)cGa>cTa	p.R438L	TMEM201_ENST00000377376.4_Missense_Mutation_p.R438L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	438					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTCTCCTCGACGGACCTCA	0.652																																					p.R438L		.											.	TMEM201-68	0			c.G1313T						.						59.0	61.0	60.0					1																	9667767		692	1591	2283	SO:0001583	missense	199953	exon7			CTCCTCGACGGAC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1313G>T	1.37:g.9667767G>T	ENSP00000344503:p.Arg438Leu	57	0		50	3	NM_001130924	0	0	1	1	0	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	35	5.502376	0.96371	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.69465	-0.5138	9	0.72032	D	0.01	-16.7154	17.5977	0.88016	0.0:0.0:1.0:0.0	.	438	E9PBR6	.	L	438	.	ENSP00000344503:R438L	R	+	2	0	TMEM201	9590354	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	4.589000	0.61006	2.584000	0.87258	0.561000	0.74099	CGA	.		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866	
AKR7A3	22977	bcgsc.ca	37	1	19611227	19611227	+	Silent	SNP	G	G	A	rs1065658	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:19611227G>A	ENST00000361640.4	-	5	1197	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	219					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCCCACGGGCTGTTTCC	0.587													G|||	735	0.146765	0.1293	0.1383	5008	,	,		16948	0.0258		0.1789	False		,,,				2504	0.2679				p.P219P		.											.	AKR7A3-90	0			c.C657T						.	G		566,3832		49,468,1682	122.0	132.0	129.0		657	-6.0	0.2	1	dbSNP_86	129	1590,7010		158,1274,2868	no	coding-synonymous	AKR7A3	NM_012067.2		207,1742,4550	AA,AG,GG		18.4884,12.8695,16.5872		219/332	19611227	2156,10842	2199	4300	6499	SO:0001819	synonymous_variant	22977	exon5			GCCCACGGGCTGT	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.657C>T	1.37:g.19611227G>A		124	1		106	6	NM_012067	0	0	5	5	0	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	CCDS193.1																																																																																			G|0.842;A|0.158		0.587	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067	
EPHA8	2046	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	22903176	22903176	+	Missense_Mutation	SNP	G	G	C	rs62642541	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:22903176G>C	ENST00000166244.3	+	3	698	c.626G>C	c.(625-627)cGc>cCc	p.R209P	EPHA8_ENST00000538803.1_Missense_Mutation_p.R209P|EPHA8_ENST00000374644.4_Missense_Mutation_p.R209P	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	209	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCATGGTGCGCAATCTGGCT	0.632																																					p.R209P		.											.	EPHA8-1380	0			c.G626C						.						57.0	54.0	55.0					1																	22903176		2203	4300	6503	SO:0001583	missense	2046	exon3			TGGTGCGCAATCT	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.626G>C	1.37:g.22903176G>C	ENSP00000166244:p.Arg209Pro	146	0		117	29	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121425	0.77436	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74209	-0.82;5.01;5.01	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000001	D	0.86806	0.6021	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.89301	0.3626	10	0.72032	D	0.01	.	14.8153	0.70031	0.0:0.0:1.0:0.0	.	209;209	P29322;P29322-2	EPHA8_HUMAN;.	P	209	ENSP00000166244:R209P;ENSP00000363775:R209P;ENSP00000440274:R209P	ENSP00000166244:R209P	R	+	2	0	EPHA8	22775763	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.482000	0.73613	2.045000	0.60652	0.442000	0.29010	CGC	G|0.999;A|0.001		0.632	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
OPRD1	4985	hgsc.bcm.edu	37	1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	rs1042114	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1.0		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4.0	6.0	5.0	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1.0	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	0	0		18	18	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
EPHA10	284656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	38192880	38192880	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:38192880C>T	ENST00000373048.4	-	8	1665	c.1666G>A	c.(1666-1668)Gcc>Acc	p.A556T	EPHA10_ENST00000540011.1_Missense_Mutation_p.A51T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A51T|EPHA10_ENST00000427468.2_Missense_Mutation_p.A556T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	556					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACCCTGAGGCAGCTGGGAGG	0.622																																					p.A556T		.											.	EPHA10-1246	0			c.G1666A						.						41.0	55.0	50.0					1																	38192880		2043	4179	6222	SO:0001583	missense	284656	exon8			CTGAGGCAGCTGG	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1666G>A	1.37:g.38192880C>T	ENSP00000362139:p.Ala556Thr	148	0		107	30	NM_001099439	0	0	0	0	0	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415444	0.42817	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77489	-1.1;-0.97;2.35;-0.96	5.27	-0.0875	0.13677	.	0.714227	0.12130	N	0.496876	T	0.52306	0.1726	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	10	0.17832	T	0.49	.	4.8014	0.13298	0.0:0.3823:0.158:0.4597	.	556	Q5JZY3	EPHAA_HUMAN	T	51;556;51;556	ENSP00000330379:A51T;ENSP00000397746:A556T;ENSP00000441822:A51T;ENSP00000362139:A556T	ENSP00000330379:A51T	A	-	1	0	EPHA10	37965467	0.072000	0.21174	0.003000	0.11579	0.965000	0.64279	0.125000	0.15749	0.002000	0.14630	0.462000	0.41574	GCC	.		0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
BMP8A	353500	hgsc.bcm.edu	37	1	39957913	39957913	+	Missense_Mutation	SNP	A	A	G	rs4660269	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:39957913A>G	ENST00000331593.5	+	1	596	c.250A>G	c.(250-252)Atg>Gtg	p.M84V		NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	84			M -> V (in dbSNP:rs4660269).		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACCACGCCATGGCTGGCGA	0.771													A|||	3367	0.672324	0.2897	0.8069	5008	,	,		8040	0.6825		0.8887	False		,,,				2504	0.8609				p.M84V		.											.	BMP8A-90	0			c.A250G						.	A	VAL/MET	1486,1350		387,712,319	7.0	9.0	8.0		250	3.3	1.0	1	dbSNP_111	8	5431,485		2501,429,28	no	missense	BMP8A	NM_181809.3	21	2888,1141,347	GG,GA,AA		8.1981,47.6023,20.9666	benign	84/403	39957913	6917,1835	1418	2958	4376	SO:0001583	missense	353500	exon1			CACGCCATGGCTG	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.250A>G	1.37:g.39957913A>G	ENSP00000327440:p.Met84Val	0	0		6	6	NM_181809	0	0	0	0	0	Q5T3A5	Missense_Mutation	SNP	ENST00000331593.5	37	CCDS437.1	1496	0.684981684981685	135	0.27439024390243905	297	0.8204419889502762	384	0.6713286713286714	680	0.8970976253298153	a	12.21	1.871113	0.33069	0.523977	0.918019	ENSG00000183682	ENST00000331593	T	0.64438	-0.1	3.32	3.32	0.38043	Transforming growth factor-beta, N-terminal (1);	0.094831	0.64402	U	0.000001	T	0.00012	0.0000	L	0.36672	1.1	0.25817	P	0.984325	B	0.13594	0.008	B	0.18263	0.021	T	0.28996	-1.0026	8	.	.	.	.	7.876	0.29595	0.8917:0.0:0.1083:0.0	rs4660269	84	Q7Z5Y6	BMP8A_HUMAN	V	84	ENSP00000327440:M84V	.	M	+	1	0	BMP8A	39730500	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.578000	0.46051	1.285000	0.44548	0.254000	0.18369	ATG	A|0.302;G|0.698		0.771	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
SETDB1	9869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	150902468	150902468	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:150902468G>C	ENST00000271640.5	+	3	476	c.286G>C	c.(286-288)Gtg>Ctg	p.V96L	SETDB1_ENST00000368962.2_Missense_Mutation_p.V96L|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Missense_Mutation_p.V96L|SETDB1_ENST00000368969.4_Missense_Mutation_p.V96L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	96					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGTCTTTGGTGAAGGACTT	0.423																																					p.V96L		.											.	SETDB1-228	0			c.G286C						.						136.0	138.0	137.0					1																	150902468		2203	4300	6503	SO:0001583	missense	9869	exon3			TCTTTGGTGAAGG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.286G>C	1.37:g.150902468G>C	ENSP00000271640:p.Val96Leu	92	0		96	19	NM_012432	0	0	2	2	0	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723439	0.68959	.	.	ENSG00000143379	ENST00000525956;ENST00000271640;ENST00000448029;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193;ENST00000423081	D;T;T;D;T	0.89939	-2.59;0.61;1.16;-2.59;0.9	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.27053	0.805	0.47862	D	0.999532	P;B;B;B;D	0.58970	0.816;0.099;0.037;0.018;0.984	B;B;B;B;D	0.68192	0.142;0.041;0.024;0.028;0.956	D	0.88612	0.3157	10	0.45353	T	0.12	.	15.2292	0.73374	0.0:0.0:0.8588:0.1412	.	96;96;96;96;96	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.;.;.;.;SETB1_HUMAN	L	96;96;96;96;96;96;96;96;110	ENSP00000271640:V96L;ENSP00000357958:V96L;ENSP00000436148:V96L;ENSP00000357965:V96L;ENSP00000432348:V96L	ENSP00000271640:V96L	V	+	1	0	SETDB1	149169092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.675000	0.61619	2.706000	0.92434	0.655000	0.94253	GTG	.		0.423	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
DENND4B	9909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	153911506	153911506	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:153911506C>T	ENST00000361217.4	-	13	2253	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	612	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGCGTTCCCGGGATTTGAG	0.537																																					p.R612Q		.											.	DENND4B-69	0			c.G1835A						.						65.0	71.0	69.0					1																	153911506		1996	4171	6167	SO:0001583	missense	9909	exon13			CGTTCCCGGGATT	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1835G>A	1.37:g.153911506C>T	ENSP00000354597:p.Arg612Gln	110	0		106	17	NM_014856	0	0	1	1	0	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346484	0.95807	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.44881	0.91;0.91	4.6	4.6	0.57074	dDENN (3);	0.224065	0.37669	N	0.001985	T	0.61615	0.2361	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65001	-0.6274	10	0.51188	T	0.08	-15.9757	16.703	0.85364	0.0:1.0:0.0:0.0	.	612	O75064	DEN4B_HUMAN	Q	612;623	ENSP00000354597:R612Q;ENSP00000357635:R623Q	ENSP00000354597:R612Q	R	-	2	0	DENND4B	152178130	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.556000	0.82233	2.557000	0.86248	0.555000	0.69702	CGG	.		0.537	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
METTL18	92342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	169762072	169762072	+	Silent	SNP	T	T	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:169762072T>C	ENST00000310392.4	-	2	1118	c.765A>G	c.(763-765)ccA>ccG	p.P255P	C1orf112_ENST00000413811.2_5'Flank|METTL18_ENST00000303469.2_Silent_p.P255P|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	255						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.P255P(1)		kidney(1)|large_intestine(3)|lung(4)	8						GTGTTACTTTTGGTTTCCTGC	0.333																																					p.P255P		.											.	METTL18-90	1	Substitution - coding silent(1)	lung(1)	c.A765G						.						115.0	119.0	118.0					1																	169762072		2168	4287	6455	SO:0001819	synonymous_variant	92342	exon2			TACTTTTGGTTTC	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.765A>G	1.37:g.169762072T>C		88	0		121	14	NM_033418	2	0	22	32	8	B2R9T5	Silent	SNP	ENST00000310392.4	37	CCDS1284.1																																																																																			.		0.333	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		4	4	NM_022371	0	0	0	1	1	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
TMEM63A	9725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	226050027	226050027	+	Missense_Mutation	SNP	G	G	C	rs374327294		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:226050027G>C	ENST00000366835.3	-	13	1246	c.976C>G	c.(976-978)Cgg>Ggg	p.R326G	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	326					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCTTCATCCGTGTGTAGTAA	0.582																																					p.R326G		.											.	TMEM63A-91	0			c.C976G						.						128.0	111.0	117.0					1																	226050027		2203	4300	6503	SO:0001583	missense	9725	exon13			TCATCCGTGTGTA		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.976C>G	1.37:g.226050027G>C	ENSP00000355800:p.Arg326Gly	175	0		142	24	NM_014698	0	0	7	9	2	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758335	0.31137	.	.	ENSG00000196187	ENST00000366835	T	0.41758	0.99	5.75	3.75	0.43078	.	0.726041	0.14130	N	0.339444	T	0.38348	0.1037	L	0.59912	1.85	0.23869	N	0.996614	B	0.02656	0.0	B	0.06405	0.002	T	0.30179	-0.9987	10	0.51188	T	0.08	-15.8091	8.7365	0.34532	0.0:0.1144:0.5482:0.3374	.	326	O94886	TM63A_HUMAN	G	326	ENSP00000355800:R326G	ENSP00000355800:R326G	R	-	1	2	TMEM63A	224116650	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.967000	0.29344	1.403000	0.46800	0.561000	0.74099	CGG	.		0.582	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	
ZBTB18	10472	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	244217637	244217637	+	Silent	SNP	C	C	T	rs549802848		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:244217637C>T	ENST00000358704.4	+	2	710	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	178				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACTTGGCGGCCGAGCCTGGGA	0.572																																					p.A187A		.											.	.	0			c.C561T						.						50.0	55.0	53.0					1																	244217637		2203	4300	6503	SO:0001819	synonymous_variant	10472	exon2			GGCGGCCGAGCCT	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.561C>T	1.37:g.244217637C>T		158	1		206	52	NM_205768	0	0	0	0	0	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	CCDS1622.1																																																																																			.		0.572	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768	
OR6F1	343169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	247875887	247875887	+	Silent	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:247875887G>T	ENST00000302084.2	-	1	218	c.171C>A	c.(169-171)acC>acA	p.T57T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGTACATGGGGGTATGCAACT	0.483																																					p.T57T		.											.	OR6F1-68	0			c.C171A						.						119.0	115.0	116.0					1																	247875887		2203	4300	6503	SO:0001819	synonymous_variant	343169	exon1			CATGGGGGTATGC	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.171C>A	1.37:g.247875887G>T		80	0		94	9	NM_001005286	0	0	0	0	0	B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	CCDS31095.1																																																																																			.		0.483	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
OR14I1	401994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248845366	248845366	+	Silent	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:248845366G>A	ENST00000342623.3	-	1	263	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGGAGTTACGGATGGATTTAG	0.478																																					p.I80I		.											.	OR14I1-46	0			c.C240T						.						128.0	110.0	116.0					1																	248845366		2203	4300	6503	SO:0001819	synonymous_variant	401994	exon1			GTTACGGATGGAT		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.240C>T	1.37:g.248845366G>A		431	0		521	94	NM_001004734	0	0	0	0	0		Silent	SNP	ENST00000342623.3	37	CCDS31125.1																																																																																			.		0.478	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	CGCCCCCCG	-	rs556055601	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:13699134_13699142delCGCCCCCCG	ENST00000357447.2	-	22	2815_2823	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGG801del|FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGG816del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761														136	0.0271565	0.0666	0.0187	5008	,	,		3762	0.0		0.0179	False		,,,				2504	0.0174				p.816_819del		.											.	FRMD4A-229	0			c.2447_2455del						.			204,2252		73,58,1097						4.8	0.9			8	213,4449		76,61,2194	no	coding	FRMD4A	NM_018027.3		149,119,3291	A1A1,A1R,RR		4.5689,8.3062,5.8584				417,6701				SO:0001651	inframe_deletion	55691	exon22			ACACACCGCCCCC	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2447_2455delCGGGGGGCG	10.37:g.13699143_13699151delCGCCCCCCG	ENSP00000350032:p.Ala816_Gly818del	9	0		16	6	NM_018027	0	0	0	0	0	A7E2Y3|Q5T377	In_Frame_Del	DEL	ENST00000357447.2	37	CCDS7101.1																																																																																			.		0.761	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
RBP3	5949	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	48382020	48382020	+	Missense_Mutation	SNP	C	C	T	rs140740560		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:48382020C>T	ENST00000224600.4	-	4	3742	c.3629G>A	c.(3628-3630)gGg>gAg	p.G1210E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1210	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGTGTCACCCCCACCCCTTC	0.642																																					p.G1210E		.											.	RBP3-153	0			c.G3629A						.	C	GLU/GLY	0,4406		0,0,2203	70.0	68.0	68.0		3629	5.7	0.9	10	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBP3	NM_002900.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1210/1248	48382020	1,13005	2203	4300	6503	SO:0001583	missense	5949	exon4			GTCACCCCCACCC	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3629G>A	10.37:g.48382020C>T	ENSP00000224600:p.Gly1210Glu	106	1		88	21	NM_002900	0	0	0	0	0	Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186947	0.78789	0.0	1.16E-4	ENSG00000107618	ENST00000224600	D	0.90844	-2.74	5.69	5.69	0.88448	Interphotoreceptor retinol-binding (2);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96773	0.9570	10	0.87932	D	0	-23.773	18.8133	0.92068	0.0:1.0:0.0:0.0	.	1210	P10745	RET3_HUMAN	E	1210	ENSP00000224600:G1210E	ENSP00000224600:G1210E	G	-	2	0	RBP3	48002026	1.000000	0.71417	0.946000	0.38457	0.955000	0.61496	7.364000	0.79526	2.692000	0.91855	0.655000	0.94253	GGG	C|1.000;T|0.000		0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
VSTM4	196740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	50311823	50311823	+	Intron	SNP	T	T	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:50311823T>A	ENST00000332853.4	-	2	481				VSTM4_ENST00000298454.3_Silent_p.A180A	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGGTTAAGTCTGCGGTGAAGG	0.498																																					p.A180A		.											.	VSTM4-154	0			c.A540T						.						114.0	105.0	108.0					10																	50311823		2203	4300	6503	SO:0001627	intron_variant	196740	exon3			TAAGTCTGCGGTG	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.457+3815A>T	10.37:g.50311823T>A		153	0		143	32	NM_144984	0	0	0	0	0	B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	CCDS31198.1																																																																																			.		0.498	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
CRTAC1	55118	bcgsc.ca	37	10	99696003	99696003	+	Silent	SNP	G	G	A	rs35027739	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:99696003G>A	ENST00000370597.3	-	3	700	c.345C>T	c.(343-345)atC>atT	p.I115I	CRTAC1_ENST00000298819.4_Silent_p.I115I|CRTAC1_ENST00000370591.2_Silent_p.I115I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	115						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTGTGACCCCGATGGCGTTCC	0.632													G|||	538	0.107428	0.0613	0.0893	5008	,	,		17709	0.0208		0.166	False		,,,				2504	0.2117				p.I115I		.											.	CRTAC1-95	0			c.C345T						.	G	,	342,4064	177.3+/-206.3	19,304,1880	73.0	57.0	63.0		345,345	-3.0	1.0	10	dbSNP_126	63	1713,6887	314.7+/-311.9	179,1355,2766	no	coding-synonymous,coding-synonymous	CRTAC1	NM_001206528.2,NM_018058.6	,	198,1659,4646	AA,AG,GG		19.9186,7.7621,15.8004	,	115/646,115/662	99696003	2055,10951	2203	4300	6503	SO:0001819	synonymous_variant	55118	exon3			GACCCCGATGGCG	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.345C>T	10.37:g.99696003G>A		135	0		153	5	NM_001206528	0	0	0	0	0	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1																																																																																			G|0.861;A|0.139		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
FAM178A	55719	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	102684506	102684506	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:102684506C>T	ENST00000238961.4	+	5	2290	c.1748C>T	c.(1747-1749)tCa>tTa	p.S583L	FAM178A_ENST00000370269.3_Missense_Mutation_p.S583L|FAM178A_ENST00000370271.3_Missense_Mutation_p.S583L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	583						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGAGAGAGTTCAGGAAATTCC	0.463																																					p.S583L		.											.	.	0			c.C1748T						.						79.0	79.0	79.0					10																	102684506		2203	4300	6503	SO:0001583	missense	55719	exon5			AGAGTTCAGGAAA	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1748C>T	10.37:g.102684506C>T	ENSP00000238961:p.Ser583Leu	73	0		74	20	NM_001136123	0	0	0	0	0	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383330	0.25031	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.44482	0.92;1.56;1.55	6.03	5.03	0.67393	.	0.482019	0.17838	N	0.160305	T	0.24661	0.0598	N	0.17082	0.46	0.33440	D	0.582254	B;B;B;B	0.33022	0.394;0.183;0.183;0.394	B;B;B;B	0.35413	0.202;0.032;0.032;0.202	T	0.22906	-1.0203	10	0.17369	T	0.5	-11.0652	7.0954	0.25307	0.0:0.8635:0.0:0.1365	.	232;583;583;583	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	L	583	ENSP00000359294:S583L;ENSP00000238961:S583L;ENSP00000359292:S583L	ENSP00000238961:S583L	S	+	2	0	FAM178A	102674496	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	2.057000	0.41365	2.861000	0.98227	0.655000	0.94253	TCA	.		0.463	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	rs4919633	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1.0		0.999	False		,,,				2504	1.0				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1269A>G	10.37:g.104159196A>G		0	0		10	10	NM_001077494	0	0	0	1	1	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
EDRF1	26098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	127422004	127422004	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:127422004C>T	ENST00000356792.4	+	10	1392	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	C10orf137_ENST00000337623.3_Missense_Mutation_p.P353L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGAAATTCCCAATTTGGAA	0.284																																					p.P387L		.											.	C10orf137-590	0			c.C1160T						.						15.0	16.0	16.0					10																	127422004		2169	4254	6423	SO:0001583	missense	26098	exon10			AAATTCCCAATTT																												ENST00000356792.4:c.1160C>T	10.37:g.127422004C>T	ENSP00000349244:p.Pro387Leu	48	0		66	13	NM_001202438	0	0	0	0	0	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170709	0.94807	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11604	2.76;2.76	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.01420	-1.1359	10	0.27082	T	0.32	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	387;353;387	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	L	387;387;353	ENSP00000349244:P387L;ENSP00000336727:P353L	ENSP00000336727:P353L	P	+	2	0	C10orf137	127411994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	2.884000	0.98904	0.655000	0.94253	CCC	.		0.284	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
MGMT	4255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	131565182	131565182	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:131565182G>T	ENST00000306010.7	+	5	670	c.638G>T	c.(637-639)gGa>gTa	p.G213V	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	182					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CCAGGCTTGGGAGGGAGCTCA	0.652								Direct reversal of damage																													p.G213V		.											.	MGMT-1108	0			c.G638T						.						31.0	34.0	33.0					10																	131565182		2203	4300	6503	SO:0001583	missense	4255	exon5			GCTTGGGAGGGAG	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.638G>T	10.37:g.131565182G>T	ENSP00000302111:p.Gly213Val	123	0		87	24	NM_002412	0	0	50	60	10	Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729017	0.30684	.	.	ENSG00000170430	ENST00000306010	T	0.05513	3.43	4.23	-1.15	0.09709	.	1.569870	0.04187	N	0.327654	T	0.04815	0.0130	N	0.24115	0.695	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.42137	-0.9469	10	0.59425	D	0.04	.	3.3788	0.07247	0.1507:0.384:0.3414:0.1239	.	213	B4DEE8	.	V	213	ENSP00000302111:G213V	ENSP00000302111:G213V	G	+	2	0	MGMT	131455172	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.302000	0.19192	-0.336000	0.08438	0.563000	0.77884	GGA	.		0.652	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412	
PWWP2B	170394	hgsc.bcm.edu	37	10	134219045	134219045	+	Silent	SNP	C	C	T	rs11146364	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16.0	21.0	20.0		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		1	0		15	8	NM_001098637	0	0	15	36	21	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
EPS8L2	64787	hgsc.bcm.edu	37	11	725736	725736	+	Silent	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:725736G>A	ENST00000533256.1	+	18	1944	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	EPS8L2_ENST00000318562.8_Silent_p.E523E|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.E539E|EPS8L2_ENST00000530636.1_Silent_p.E523E			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	523	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTGCTGGAGGACGGCCGGC	0.761																																					p.E523E		.											.	EPS8L2-91	0			c.G1569A						.						3.0	5.0	4.0					11																	725736		1762	3741	5503	SO:0001819	synonymous_variant	64787	exon17			GCTGGAGGACGGC	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1569G>A	11.37:g.725736G>A		0	0		19	9	NM_022772	0	0	0	0	0	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	CCDS31328.1																																																																																			.		0.761	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772	
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651229	1651229	+	Silent	SNP	G	G	A	rs553119014	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:1651229G>A	ENST00000399676.2	+	1	197	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	53				A -> G (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.A53A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtgcgggctgtgggg	0.682													g|||	17	0.00339457	0.0045	0.0014	5008	,	,		5663	0.0		0.005	False		,,,				2504	0.0051				p.A53A		.											.	KRTAP5-5-23	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A						.						35.0	47.0	43.0					11																	1651229		2115	4180	6295	SO:0001819	synonymous_variant	439915	exon1			CTGTGCGGGCTGT	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.159G>A	11.37:g.1651229G>A		41	0		69	14	NM_001001480	0	0	0	0	0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1		
SAA2	6289	bcgsc.ca	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C	rs202101890	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|RNA5SP333_ENST00000363466.1_RNA|SAA2-SAA4_ENST00000524555.1_RNA			P0DJI9	SAA2_HUMAN	serum amyloid A2	102					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572																																					p.K102E		.											.	SAA2-514	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.A304G						.						93.0	83.0	86.0					11																	18266989		2199	4293	6492	SO:0001583	missense	6289	exon4			CCCATTTATTGGC	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.304A>G	11.37:g.18266989T>C	ENSP00000436126:p.Lys102Glu	217	5		202	9	NM_030754	0	0	0	2	2	G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	T	3.365	-0.129679	0.06753	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.08720	3.06;3.06;3.06	5.01	-10.0	0.00425	.	1.240460	0.05687	N	0.591555	T	0.02193	0.0068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41840	-0.9486	7	0.02654	T	1	.	8.2109	0.31483	0.0:0.2224:0.3585:0.4191	.	.	.	.	E	102	ENSP00000256733:K102E;ENSP00000437162:K102E;ENSP00000436126:K102E	ENSP00000256733:K102E	K	-	1	0	SAA2	18223565	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.966000	0.00324	-1.715000	0.01389	-0.147000	0.13772	AAA	T|0.997;C|0.003		0.572	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754	
CELF1	10658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47505954	47505954	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:47505954A>T	ENST00000358597.3	-	4	431	c.432T>A	c.(430-432)gaT>gaA	p.D144E	CELF1_ENST00000310513.5_Missense_Mutation_p.D144E|CELF1_ENST00000361904.3_Missense_Mutation_p.D144E|CELF1_ENST00000395292.2_Missense_Mutation_p.D144E|CELF1_ENST00000532048.1_Missense_Mutation_p.D170E|CELF1_ENST00000395290.2_Missense_Mutation_p.D143E|CELF1_ENST00000531165.1_Missense_Mutation_p.D171E|AC090559.1_ENST00000578625.1_RNA			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	144	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GGCTCAGGCCATCAGGTCCCC	0.398																																					p.D170E	Pancreas(163;1949 1966 9906 43218 43785)	.											.	CELF1-92	0			c.T510A						.						82.0	83.0	82.0					11																	47505954		2201	4298	6499	SO:0001583	missense	10658	exon7			CAGGCCATCAGGT	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.432T>A	11.37:g.47505954A>T	ENSP00000351409:p.Asp144Glu	126	0		145	36	NM_001172639	0	0	1	1	0	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295772	0.81025	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	N	0.19112	0.55	0.80722	D	1	P;B;P;P;B;P	0.48350	0.909;0.006;0.71;0.71;0.006;0.754	D;B;P;P;B;P	0.63033	0.91;0.015;0.616;0.616;0.015;0.735	T	0.03761	-1.1006	10	0.52906	T	0.07	-15.7536	16.1141	0.81289	1.0:0.0:0.0:0.0	.	143;171;170;144;144;144	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	E	143;144;144;144;144;171;170	ENSP00000378705:D143E;ENSP00000351409:D144E;ENSP00000378706:D144E;ENSP00000308386:D144E;ENSP00000354639:D144E;ENSP00000436864:D171E;ENSP00000435926:D170E	ENSP00000308386:D144E	D	-	3	2	CELF1	47462530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.248000	0.51430	2.214000	0.71695	0.528000	0.53228	GAT	.		0.398	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	
OR5D18	219438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55587904	55587904	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:55587904A>C	ENST00000333976.4	+	1	819	c.799A>C	c.(799-801)Aac>Cac	p.N267H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CAACTCCAAAAACTCCAGGCA	0.517																																					p.N267H		.											.	OR5D18-71	0			c.A799C						.						89.0	85.0	86.0					11																	55587904		2200	4296	6496	SO:0001583	missense	219438	exon1			TCCAAAAACTCCA	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.799A>C	11.37:g.55587904A>C	ENSP00000335025:p.Asn267His	97	0		112	30	NM_001001952	0	0	0	0	0	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	5.714	0.316172	0.10789	.	.	ENSG00000186119	ENST00000333976	T	0.00076	8.76	4.81	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000615	T	0.00073	0.0002	N	0.11818	0.18	0.24477	N	0.994364	B	0.20368	0.044	B	0.23852	0.049	T	0.18618	-1.0331	10	0.02654	T	1	-20.9639	9.6698	0.40006	0.8444:0.0:0.0:0.1556	.	267	Q8NGL1	OR5DI_HUMAN	H	267	ENSP00000335025:N267H	ENSP00000335025:N267H	N	+	1	0	OR5D18	55344480	0.000000	0.05858	0.966000	0.40874	0.390000	0.30446	-0.437000	0.06914	1.959000	0.56917	0.467000	0.42956	AAC	.		0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
YPEL4	219539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	57414559	57414559	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:57414559G>T	ENST00000524669.1	-	2	2744	c.22C>A	c.(22-24)Ccg>Acg	p.P8T	YPEL4_ENST00000300022.3_Missense_Mutation_p.P8T|YPEL4_ENST00000544993.1_Missense_Mutation_p.P8T|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000534711.1_Missense_Mutation_p.P8T|YPEL4_ENST00000531442.1_5'Flank			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	8						nucleus (GO:0005634)				lung(2)|skin(1)	3						GCAGGGCCCGGACCGGGGTCA	0.677																																					p.P8T		.											.	YPEL4-90	0			c.C22A						.						31.0	32.0	32.0					11																	57414559		2198	4290	6488	SO:0001583	missense	219539	exon2			GGCCCGGACCGGG	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.22C>A	11.37:g.57414559G>T	ENSP00000432648:p.Pro8Thr	126	0		132	36	NM_145008	0	0	0	1	1	B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142628	0.37825	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711;ENST00000534810	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000003	T	0.44414	0.1292	L	0.34521	1.04	0.36474	D	0.86745	B	0.28026	0.198	B	0.15052	0.012	T	0.51663	-0.8677	9	0.40728	T	0.16	-9.5397	12.6701	0.56862	0.0:0.0:0.8352:0.1648	.	8	Q96NS1	YPEL4_HUMAN	T	8	.	ENSP00000300022:P8T	P	-	1	0	YPEL4	57171135	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	2.967000	0.49216	2.476000	0.83614	0.557000	0.71058	CCG	.		0.677	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008	
TMEM132A	54972	hgsc.bcm.edu	37	11	60701987	60701987	+	Silent	SNP	G	G	A	rs7715	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		.											.	TMEM132A-227	0			c.G1590A						.	A	,	942,1508		213,516,496	2.0	2.0	2.0		1590,1587	-7.2	0.0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		0	0		5	5	NM_017870	0	0	0	107	107	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.581;A|0.419		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
C11orf95	65998	hgsc.bcm.edu	37	11	63531175	63531175	+	lincRNA	SNP	C	C	G	rs2959886	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:63531175C>G	ENST00000433688.1	-	0	1770							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95																		CGCCCCGCCACCGCGGCTGGT	0.751													G|||	946	0.188898	0.4372	0.0937	5008	,	,		7651	0.003		0.1372	False		,,,				2504	0.1656				p.R584R		.											.	.	0			c.G1752C						.						5.0	9.0	8.0					11																	63531175		637	1527	2164			65998	exon5			CCGCCACCGCGGC	BC000572, AK096306		11q13	2011-11-24			ENSG00000188070	ENSG00000188070			28449	protein-coding gene	gene with protein product		615699				20607705	Standard	NM_001144936		Approved	MGC3032	uc010rmv.2	C9JLR9			11.37:g.63531175C>G		4	0		28	14	NM_001144936	0	0	0	0	0	A6NLS7|Q3C1V4	Silent	SNP	ENST00000433688.1	37																																																																																				C|0.216;G|0.784		0.751	C11orf95-201	KNOWN	basic	lincRNA	lincRNA		NM_001144936	
FRMD8	83786	ucsc.edu;bcgsc.ca	37	11	65161744	65161744	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:65161744G>C	ENST00000317568.5	+	6	592	c.429G>C	c.(427-429)gaG>gaC	p.E143D	FRMD8_ENST00000416776.2_Missense_Mutation_p.E109D|FRMD8_ENST00000355991.5_Missense_Mutation_p.E87D	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	143	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ATGACGAGGAGGTCCTGCGGC	0.677																																					p.E143D		.											.	FRMD8-227	0			c.G429C						.						29.0	27.0	28.0					11																	65161744		2197	4294	6491	SO:0001583	missense	83786	exon6			CGAGGAGGTCCTG	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.429G>C	11.37:g.65161744G>C	ENSP00000319726:p.Glu143Asp	157	3		184	37	NM_031904	0	0	6	6	0	B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	9.175	1.022230	0.19433	.	.	ENSG00000126391	ENST00000317568;ENST00000533782;ENST00000355991;ENST00000416776;ENST00000526201	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.81	1.7	0.24286	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.286617	0.33610	N	0.004724	T	0.51312	0.1667	N	0.13043	0.29	0.24654	N	0.993504	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.16289	0.015;0.006;0.011	T	0.15122	-1.0448	10	0.12766	T	0.61	-13.935	2.4503	0.04517	0.0998:0.1548:0.4506:0.2947	.	109;87;143	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	D	143;87;87;109;101	ENSP00000319726:E143D;ENSP00000435913:E87D;ENSP00000348270:E87D;ENSP00000392111:E109D;ENSP00000435991:E101D	ENSP00000319726:E143D	E	+	3	2	FRMD8	64918320	0.987000	0.35691	1.000000	0.80357	0.701000	0.40568	0.054000	0.14205	1.163000	0.42636	0.555000	0.69702	GAG	.		0.677	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810209	65810209	+	Silent	SNP	C	C	T	rs61895584	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3.0	2.0	2.0		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		0	0		6	6	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
FCHSD2	9873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	72578934	72578934	+	Silent	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:72578934C>T	ENST00000409418.4	-	13	1667	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	FCHSD2_ENST00000311172.7_Silent_p.V372V|FCHSD2_ENST00000458644.2_Silent_p.V292V|RNU6-672P_ENST00000383911.1_RNA|FCHSD2_ENST00000409853.1_Silent_p.V372V|FCHSD2_ENST00000409314.1_Silent_p.V452V	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	428										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CATTACTGGTCACTGCAGGAG	0.428																																					p.V428V		.											.	FCHSD2-228	0			c.G1284A						.						85.0	80.0	81.0					11																	72578934		2200	4293	6493	SO:0001819	synonymous_variant	9873	exon13			ACTGGTCACTGCA	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1284G>A	11.37:g.72578934C>T		77	0		70	14	NM_014824	0	0	0	0	0	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	CCDS8218.2																																																																																			.		0.428	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92624213	92624213	+	Silent	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:92624213G>A	ENST00000298047.6	+	27	13721	c.13704G>A	c.(13702-13704)gtG>gtA	p.V4568V	FAT3_ENST00000533797.1_Silent_p.V871V|FAT3_ENST00000525166.1_Silent_p.V4418V|FAT3_ENST00000409404.2_Silent_p.V4536V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4568					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGAGAGCGTGGGAGAGCTCA	0.522										TCGA Ovarian(4;0.039)																											p.V4536V		.											.	FAT3-73	0			c.G13608A						.						42.0	45.0	44.0					11																	92624213		2097	4221	6318	SO:0001819	synonymous_variant	120114	exon25			GAGCGTGGGAGAG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13704G>A	11.37:g.92624213G>A		79	0		69	18	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.		0.522	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MTNR1B	4544	hgsc.bcm.edu	37	11	92702962	92702962	+	Missense_Mutation	SNP	G	G	A	rs8192552	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:92702962G>A	ENST00000257068.2	+	1	77	c.71G>A	c.(70-72)gGg>gAg	p.G24E		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	24			G -> E (in dbSNP:rs8192552). {ECO:0000269|PubMed:10696804}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGCTGGTCGGGGGCTGGCAGC	0.726													G|||	325	0.0648962	0.1044	0.0461	5008	,	,		10938	0.004		0.0666	False		,,,				2504	0.0859				p.G24E		.											.	MTNR1B-522	0			c.G71A						.	G	GLU/GLY	330,3956		18,294,1831	9.0	11.0	10.0		71	0.1	0.0	11	dbSNP_117	10	595,7775		22,551,3612	no	missense	MTNR1B	NM_005959.3	98	40,845,5443	AA,AG,GG		7.1087,7.6995,7.3088	benign	24/363	92702962	925,11731	2143	4185	6328	SO:0001583	missense	4544	exon1			GGTCGGGGGCTGG	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.71G>A	11.37:g.92702962G>A	ENSP00000257068:p.Gly24Glu	2	0		26	17	NM_005959	0	0	0	0	0		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	116|116	0.05311355311355311|0.05311355311355311	49|49	0.09959349593495935|0.09959349593495935	22|22	0.06077348066298342|0.06077348066298342	0|0	0.0|0.0	45|45	0.059366754617414245|0.059366754617414245	G|G	10.83|10.83	1.462149|1.462149	0.26248|0.26248	0.076995|0.076995	0.071087|0.071087	ENSG00000134640|ENSG00000134640	ENST00000257068|ENST00000528076	T|.	0.72835|.	-0.69|.	4.36|4.36	0.122|0.122	0.14702|0.14702	.|.	0.861769|0.861769	0.09894|0.09894	N|N	0.742000|0.742000	T|T	0.00784|0.00784	0.0026|0.0026	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	P|P	0.0|0.0	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|T	0.21280|0.21280	-1.0250|-1.0250	9|6	0.30854|0.87932	T|D	0.27|0	-7.7002|-7.7002	4.9023|4.9023	0.13781|0.13781	0.3457:0.1574:0.497:0.0|0.3457:0.1574:0.497:0.0	rs8192552|rs8192552	24|.	P49286|.	MTR1B_HUMAN|.	E|R	24|5	ENSP00000257068:G24E|.	ENSP00000257068:G24E|ENSP00000433573:G5R	G|G	+|+	2|1	0|0	MTNR1B|MTNR1B	92342610|92342610	0.069000|0.069000	0.21087|0.21087	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	0.676000|0.676000	0.25247|0.25247	0.266000|0.266000	0.21894|0.21894	-0.384000|-0.384000	0.06662|0.06662	GGG|GGG	G|0.942;A|0.058		0.726	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
MMP12	4321	broad.mit.edu	37	11	102737064	102737064	+	RNA	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr11:102737064G>C	ENST00000532855.1	-	0	1122							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGAAAAACTTGATTTCTGGCT	0.333																																					.		.											.	MMP12-226	0			.						.						43.0	44.0	44.0					11																	102737064		1791	4059	5850			4321	.			AAACTTGATTTCT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737064G>C		89	0		77	4	.	0	0	0	0	0	B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																				.		0.333	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr12:58158993G>T	ENST00000228606.4	-	4	800	c.591C>A	c.(589-591)ggC>ggA	p.G197G	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	197					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G197G		.											.	CYP27B1-514	1	Substitution - coding silent(1)	lung(1)	c.C591A						.						21.0	21.0	21.0					12																	58158993		2199	4296	6495	SO:0001630	splice_region_variant	1594	exon4			GGCGATGCCTTGT	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.590-1C>A	12.37:g.58158993G>T		31	0	1028	122	6	NM_000785	0	0	4	4	0	B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	CCDS8954.1																																																																																			.		0.687	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	Silent
ANO4	121601	bcgsc.ca	37	12	101437361	101437361	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr12:101437361G>A	ENST00000392977.3	+	13	1409	c.1199G>A	c.(1198-1200)tGt>tAt	p.C400Y	ANO4_ENST00000392979.3_Missense_Mutation_p.C365Y|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	400					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTGTGTGTGATAAATAC	0.363										HNSCC(74;0.22)																											p.C365Y		.											.	ANO4-96	0			c.G1094A						.						183.0	168.0	173.0					12																	101437361		2203	4300	6503	SO:0001583	missense	121601	exon12			CTGTGTGTGATAA	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1199G>A	12.37:g.101437361G>A	ENSP00000376703:p.Cys400Tyr	106	0		117	5	NM_178826	0	0	0	0	0	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.687888	0.88639	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	D;D	0.82433	-1.57;-1.61	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.93815	0.8022	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.94822	0.7988	10	0.87932	D	0	.	19.706	0.96072	0.0:0.0:1.0:0.0	.	400;365	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	365;400	ENSP00000376705:C365Y;ENSP00000376703:C400Y	ENSP00000376703:C400Y	C	+	2	0	ANO4	99961492	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	TGT	.		0.363	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
FAM109A	144717	hgsc.bcm.edu	37	12	111800827	111800835	+	In_Frame_Del	DEL	GCCACCCCC	GCCACCCCC	-	rs3840795|rs139032867|rs199734407|rs200911236	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	GCCACCCCC	GCCACCCCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr12:111800827_111800835delGCCACCCCC	ENST00000547838.2	-	2	494_502	c.397_405delGGGGGTGGC	c.(397-405)gggggtggcdel	p.GGG133del	FAM109A_ENST00000392658.5_In_Frame_Del_p.GGG133del|FAM109A_ENST00000548163.1_In_Frame_Del_p.GGG133del|FAM109A_ENST00000361483.3_In_Frame_Del_p.GGG146del|FAM109A_ENST00000450786.2_In_Frame_Del_p.113_116AGVA>A			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	133					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)	p.G133M(1)|p.G146_G148delGGG(1)|p.G133_G135delGGG(1)		breast(1)|endometrium(1)|lung(1)|ovary(1)	4						gcagggCCATGCCACCCCCGCCACGTACA	0.732														1710	0.341454	0.233	0.3732	5008	,	,		9526	0.6518		0.2078	False		,,,				2504	0.2832				p.146_148del		.											.	FAM109A-90	3	Deletion - In frame(2)|Substitution - Missense(1)	breast(2)|ovary(1)	c.436_444del						.		,,	674,3090		134,406,1342				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,	-4.5	0.0		dbSNP_107	6	1126,6432		186,754,2839	no	coding,coding,coding	FAM109A	NM_144671.4,NM_001177997.1,NM_001177996.1	,,	320,1160,4181	A1A1,A1R,RR		14.8981,17.9065,15.8983	,,	,,		1800,9522				SO:0001651	inframe_deletion	144717	exon4			GGCCATGCCACCC	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"""Pleckstrin homology (PH) domain containing"""	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.397_405delGGGGGTGGC	12.37:g.111800827_111800835delGCCACCCCC	ENSP00000447353:p.Gly133_Gly135del	4	2		16	14	NM_001177996	0	0	0	0	0	J3KP50|Q6PJL9|Q96MH8	In_Frame_Del	DEL	ENST00000547838.2	37	CCDS9152.1																																																																																			.		0.732	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671	
RB1	5925	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	48953769	48953769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr13:48953769G>T	ENST00000267163.4	+	14	1510	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	458	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCGAGTAATGGAATCCATGCT	0.393		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.E458X		.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1-3784	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.G1372T	GRCh37	CM030505	RB1	M		.						22.0	22.0	22.0					13																	48953769		2202	4300	6502	SO:0001587	stop_gained	5925	exon14	Familial Cancer Database		GTAATGGAATCCA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1372G>T	13.37:g.48953769G>T	ENSP00000267163:p.Glu458*	121	1		43	25	NM_000321	0	0	2	2	0	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	40	8.117683	0.98662	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	.	.	.	X	437;458	.	ENSP00000267163:E458X	E	+	1	0	RB1	47851770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.891000	0.92485	2.707000	0.92482	0.557000	0.71058	GAA	.		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		35	0		37	3	NM_080687	0	0	3	3	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
ZNF219	51222	hgsc.bcm.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	GAGGCT	GAGGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231				p.233_235del		.											.	ZNF219-90	3	Deletion - In frame(3)	large_intestine(1)|prostate(1)|breast(1)	c.698_703del						.		,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	51222	exon3			GGGGTGGAGGCTG	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del	1	0	749	35	12	NM_001102454	0	0	0	0	0	D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	CCDS9568.1																																																																																			.		0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2		
C14orf93	60686	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	23456607	23456607	+	Silent	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:23456607G>A	ENST00000299088.6	-	7	1863	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	C14orf93_ENST00000397379.3_Silent_p.D478D|C14orf93_ENST00000406429.2_Splice_Site_p.D438D|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Silent_p.D298D|C14orf93_ENST00000341470.4_Splice_Site_p.D438D|C14orf93_ENST00000397382.4_Silent_p.D478D|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	478						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AAGGCAGTCTGTCTGAGGGAG	0.552																																					p.D478D		.											.	C14orf93-91	0			c.C1434T						.						127.0	108.0	115.0					14																	23456607		2203	4300	6503	SO:0001819	synonymous_variant	60686	exon7			CAGTCTGTCTGAG	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1434C>T	14.37:g.23456607G>A		223	2		213	45	NM_021944	0	0	17	20	3	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	CCDS9583.1																																																																																			.		0.552	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944	
PRKD1	5587	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	30066912	30066912	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:30066912C>T	ENST00000331968.5	-	16	2448	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.R748Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R740L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGACCTCCGGAAAGACTT	0.488																																					p.R740Q		.											.	PRKD1-1534	2	Substitution - Missense(2)	lung(2)	c.G2219A						.						72.0	73.0	73.0					14																	30066912		2203	4300	6503	SO:0001583	missense	5587	exon16			GACCTCCGGAAAG		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2219G>A	14.37:g.30066912C>T	ENSP00000333568:p.Arg740Gln	47	0		58	19	NM_002742	0	0	4	6	2	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694985	0.96793	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82893	-1.66;-1.66	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.84383	0.5460	N	0.11560	0.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.87429	0.2387	10	0.87932	D	0	-11.7104	20.2504	0.98404	0.0:1.0:0.0:0.0	.	740	Q15139	KPCD1_HUMAN	Q	740;748	ENSP00000333568:R740Q;ENSP00000390535:R748Q	ENSP00000333568:R740Q	R	-	2	0	PRKD1	29136663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	CGG	.		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	36155747	36155747	+	Splice_Site	DEL	C	C	-			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:36155747delC	ENST00000389698.3	-	18	2950		c.e18+1		RALGAPA1_ENST00000307138.6_Splice_Site|RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000258840.6_Splice_Site	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAAAACTTACCGAGGCATTA	0.343																																					.		.											.	RALGAPA1-138	0			c.2559+1G>-						.						27.0	27.0	27.0					14																	36155747		2203	4300	6503	SO:0001630	splice_region_variant	253959	exon19			AACTTACCGAGGC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2559+1G>-	14.37:g.36155747delC		96	0		129	23	NM_194301	0	0	0	0	0	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Splice_Site	DEL	ENST00000389698.3	37	CCDS32065.1																																																																																			.		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	Intron
SFTA3	253970	broad.mit.edu	37	14	36946275	36946275	+	Silent	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:36946275G>T	ENST00000518529.2	-	3	837	c.162C>A	c.(160-162)ccC>ccA	p.P54P	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	54										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						CGACACAGGTGGGTATCCGCT	0.532																																					p.P54P		.											.	.	0			c.C162A						.						145.0	153.0	150.0					14																	36946275		2110	4222	6332	SO:0001819	synonymous_variant	253970	exon3			ACAGGTGGGTATC	AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.162C>A	14.37:g.36946275G>T		256	0		240	6	NM_001101341	0	0	0	0	0		Silent	SNP	ENST00000518529.2	37	CCDS45097.1																																																																																			.		0.532	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376217.2	NM_001101341	
PYGL	5836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	51383442	51383442	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:51383442T>C	ENST00000216392.7	-	9	1342	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	PYGL_ENST00000532462.1_Missense_Mutation_p.Q337R|PYGL_ENST00000544180.2_Missense_Mutation_p.Q303R	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	337					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GTCATTCAGCTGGATGGCCAC	0.502																																					p.Q337R		.											.	PYGL-91	0			c.A1010G						.						112.0	101.0	105.0					14																	51383442		2203	4300	6503	SO:0001583	missense	5836	exon9			TTCAGCTGGATGG		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1010A>G	14.37:g.51383442T>C	ENSP00000216392:p.Gln337Arg	232	0		258	49	NM_002863	0	0	0	0	0	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.024646	0.93518	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93953	-3.25;-3.25;-3.32	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.98426	4.23	0.80722	D	1	D;D;D;D	0.89917	0.995;0.988;0.996;1.0	D;D;D;D	0.80764	0.972;0.99;0.984;0.994	D	0.99577	1.0972	10	0.87932	D	0	-19.8901	15.2153	0.73261	0.0:0.0:0.0:1.0	.	303;337;303;337	F5H816;E9PK47;B4DUB7;P06737	.;.;.;PYGL_HUMAN	R	337;303;337	ENSP00000431657:Q337R;ENSP00000443787:Q303R;ENSP00000216392:Q337R	ENSP00000216392:Q337R	Q	-	2	0	PYGL	50453192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	CAG	.		0.502	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
KIF26A	26153	hgsc.bcm.edu	37	14	104644099	104644099	+	Silent	SNP	T	T	C	rs2497297	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3.0	4.0	4.0		4974	-0.8	1.0	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		0	0		7	6	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
NPAP1	23742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	24921531	24921531	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr15:24921531G>A	ENST00000329468.2	+	1	991	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	173					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGAAGGGGAGGATGACGAGAA	0.622																																					p.D173N		.											.	.	0			c.G517A						.						48.0	41.0	43.0					15																	24921531		2203	4300	6503	SO:0001583	missense	23742	exon1			GGGGAGGATGACG	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.517G>A	15.37:g.24921531G>A	ENSP00000333735:p.Asp173Asn	58	0		71	11	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.780	1.175120	0.21704	.	.	ENSG00000185823	ENST00000329468	T	0.13420	2.59	3.01	-4.89	0.03103	.	1.985010	0.03468	N	0.213269	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.28991	0.097	T	0.30621	-0.9972	10	0.34782	T	0.22	.	5.1503	0.15005	0.2439:0.4632:0.293:0.0	.	173	Q9NZP6	CO002_HUMAN	N	173	ENSP00000333735:D173N	ENSP00000333735:D173N	D	+	1	0	C15orf2	22472624	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.884000	0.28214	-1.168000	0.02776	0.430000	0.28490	GAT	.		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
TRPM1	4308	bcgsc.ca	37	15	31295151	31295151	+	Missense_Mutation	SNP	T	T	G	rs17227996	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr15:31295151T>G	ENST00000256552.6	-	28	3899	c.3752A>C	c.(3751-3753)aAt>aCt	p.N1251T	TRPM1_ENST00000397795.2_Missense_Mutation_p.N1229T|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.N1268T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCAAGAGCATTCACCATTCT	0.453													T|||	74	0.0147764	0.0023	0.0216	5008	,	,		19076	0.0		0.0517	False		,,,				2504	0.0041				p.N1268T		.											.	TRPM1-94	0			c.A3803C						.	T	THR/ASN	43,3879		0,43,1918	103.0	100.0	101.0		3686	2.8	0.2	15	dbSNP_123	101	503,7787		15,473,3657	yes	missense	TRPM1	NM_002420.4	65	15,516,5575	GG,GT,TT		6.0676,1.0964,4.471	benign	1229/1604	31295151	546,11666	1961	4145	6106	SO:0001583	missense	4308	exon27			AGAGCATTCACCA	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3752A>C	15.37:g.31295151T>G	ENSP00000256552:p.Asn1251Thr	79	0		89	4	NM_001252020	0	0	0	0	0		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	45	0.020604395604395604	0	0.0	7	0.019337016574585635	0	0.0	38	0.05013192612137203	T	6.739	0.505047	0.12822	0.010964	0.060676	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.11385	2.78;2.78;2.78	5.2	2.79	0.32731	.	0.313102	0.37437	N	0.002084	T	0.00524	0.0017	N	0.15975	0.35	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.44922	-0.9296	10	0.02654	T	1	-13.1548	8.2242	0.31560	0.0:0.1789:0.0:0.8211	rs17227996;rs52827860;rs58983950;rs17227996	1223;1229	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	1229;1268;1251;1229	ENSP00000380897:N1229T;ENSP00000437849:N1268T;ENSP00000256552:N1251T	ENSP00000256552:N1251T	N	-	2	0	TRPM1	29082443	0.006000	0.16342	0.162000	0.22713	0.768000	0.43524	0.610000	0.24253	0.284000	0.22305	0.528000	0.53228	AAT	T|0.968;G|0.032		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
MEX3B	84206	hgsc.bcm.edu	37	15	82335880	82335880	+	Missense_Mutation	SNP	G	G	C	rs373501308		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr15:82335880G>C	ENST00000329713.4	-	2	1766	c.1331C>G	c.(1330-1332)cCc>cGc	p.P444R	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	444					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CATGTGCAAGGGTGGAGACAG	0.736																																					p.P444R		.											.	MEX3B-226	0			c.C1331G						.						12.0	16.0	14.0					15																	82335880		2146	4182	6328	SO:0001583	missense	84206	exon2			TGCAAGGGTGGAG	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1331C>G	15.37:g.82335880G>C	ENSP00000329918:p.Pro444Arg	3	0		71	10	NM_032246	0	0	0	0	0	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391221	0.42410	.	.	ENSG00000183496	ENST00000329713	T	0.22539	1.95	4.7	3.76	0.43208	.	0.218080	0.38548	N	0.001652	T	0.17662	0.0424	L	0.36672	1.1	0.80722	D	1	B	0.29432	0.244	B	0.24006	0.05	T	0.04840	-1.0923	10	0.66056	D	0.02	-19.8586	13.6438	0.62267	0.0:0.1569:0.8431:0.0	.	444	Q6ZN04	MEX3B_HUMAN	R	444	ENSP00000329918:P444R	ENSP00000329918:P444R	P	-	2	0	MEX3B	80122935	0.806000	0.28996	0.993000	0.49108	0.608000	0.37181	1.085000	0.30840	1.160000	0.42584	0.561000	0.74099	CCC	.		0.736	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645	
PKD1	5310	broad.mit.edu	37	16	2154573	2154573	+	Missense_Mutation	SNP	A	A	C	rs201238819		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:2154573A>C	ENST00000262304.4	-	22	8295	c.8087T>G	c.(8086-8088)cTc>cGc	p.L2696R	PKD1_ENST00000423118.1_Missense_Mutation_p.L2696R|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2696	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		L -> R (in PKD1). {ECO:0000269|PubMed:11316854}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2696R(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGCAGGATGAGCATCATGGC	0.677																																					p.L2696R		.											.	PKD1-91	3	Substitution - Missense(3)	skin(2)|endometrium(1)	c.T8087G	GRCh37	CM014074	PKD1	M		.						16.0	12.0	13.0					16																	2154573		2107	4184	6291	SO:0001583	missense	5310	exon22			AGGATGAGCATCA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8087T>G	16.37:g.2154573A>C	ENSP00000262304:p.Leu2696Arg	88	1		99	5	NM_000296	0	0	0	5	5	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	-	0.355	-0.942715	0.02322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32988	1.43;1.43	4.37	-1.71	0.08133	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.646468	0.16090	N	0.230081	T	0.05181	0.0138	N	0.00347	-1.61	0.20873	N	0.99984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35500	-0.9786	10	0.12430	T	0.62	.	2.3268	0.04224	0.102:0.2587:0.2052:0.4341	.	2696;2696	P98161-3;P98161	.;PKD1_HUMAN	R	2696;2696;2031;975	ENSP00000262304:L2696R;ENSP00000399501:L2696R	ENSP00000262304:L2696R	L	-	2	0	PKD1	2094574	0.916000	0.31088	0.097000	0.21041	0.126000	0.20510	0.857000	0.27831	-0.349000	0.08274	-0.335000	0.08231	CTC	.		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
ECI1	1632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	2293441	2293441	+	Splice_Site	SNP	C	C	T	rs141975235		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:2293441C>T	ENST00000301729.4	-	5	489		c.e5-1		ECI1_ENST00000570258.1_Splice_Site|ECI1_ENST00000562238.1_Splice_Site|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1						cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GGCAGGCTCCCTGCAGGGAGA	0.657																																					.		.											.	ECI1-90	0			c.442-1G>A						.	C	,	0,4396		0,0,2198	50.0	49.0	50.0		,	4.6	1.0	16	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	splice-3,splice-3	ECI1	NM_001178029.1,NM_001919.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	,	2293441	1,12995	2198	4300	6498	SO:0001630	splice_region_variant	1632	exon6			GGCTCCCTGCAGG		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.442-1G>A	16.37:g.2293441C>T		66	0		45	11	NM_001178029	0	0	0	0	0	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Splice_Site	SNP	ENST00000301729.4	37	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534793	0.27475	0.0	1.16E-4	ENSG00000167969	ENST00000301729	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7216	0.57146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECI1	2233442	1.000000	0.71417	0.982000	0.44146	0.121000	0.20230	7.540000	0.82074	2.372000	0.80975	0.655000	0.94253	.	C|1.000;T|0.000		0.657	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1		Intron
MEFV	4210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3293492	3293492	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:3293492C>G	ENST00000219596.1	-	10	2034	c.1995G>C	c.(1993-1995)tgG>tgC	p.W665C	MEFV_ENST00000536379.1_Missense_Mutation_p.W454C|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.W485C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	665	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTCCCAGGATCCATGCTGTCT	0.517																																					p.W665C		.											.	MEFV-228	0			c.G1995C						.						123.0	115.0	117.0					16																	3293492		2197	4300	6497	SO:0001583	missense	4210	exon10			CAGGATCCATGCT	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1995G>C	16.37:g.3293492C>G	ENSP00000219596:p.Trp665Cys	76	0		59	13	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483128	0.44147	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.67345	-0.26;-0.26;-0.26	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.45361	D	0.000376	D	0.83995	0.5375	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86360	0.1716	10	0.62326	D	0.03	-16.6149	16.5537	0.84479	0.0:1.0:0.0:0.0	.	665	O15553	MEFV_HUMAN	C	665;485;454	ENSP00000219596:W665C;ENSP00000339639:W485C;ENSP00000445079:W454C	ENSP00000219596:W665C	W	-	3	0	MEFV	3233493	1.000000	0.71417	0.147000	0.22382	0.331000	0.28603	6.031000	0.70911	2.573000	0.86826	0.650000	0.86243	TGG	.		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
TFAP4	7023	broad.mit.edu	37	16	4310202	4310202	+	Silent	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:4310202C>A	ENST00000204517.6	-	6	1039	c.711G>T	c.(709-711)gtG>gtT	p.V237V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	237	Pro-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGGTGCTGGCACGATCACCG	0.617																																					p.V237V		.											.	TFAP4-91	0			c.G711T						.						68.0	58.0	62.0					16																	4310202		2197	4300	6497	SO:0001819	synonymous_variant	7023	exon6			TGCTGGCACGATC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.711G>T	16.37:g.4310202C>A		19	0		12	4	NM_003223	0	0	3	3	0	O60409	Silent	SNP	ENST00000204517.6	37	CCDS10510.1																																																																																			.		0.617	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223	
COQ7	10229	hgsc.bcm.edu	37	16	19079037	19079037	+	Silent	SNP	G	G	A	rs17357834	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:19079037G>A	ENST00000321998.5	+	1	117	c.51G>A	c.(49-51)ccG>ccA	p.P17P	RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000568985.1_Silent_p.P17P|RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|RP11-626G11.1_ENST00000565802.1_lincRNA|RP11-626G11.5_ENST00000568971.1_RNA|COQ7_ENST00000569127.1_5'Flank|COQ7_ENST00000544894.2_5'Flank	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	17					age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						ggctgcgcccgggggcccggc	0.627													G|||	763	0.152356	0.1422	0.2277	5008	,	,		10467	0.1488		0.1779	False		,,,				2504	0.09				p.P17P		.											.	COQ7-91	0			c.G51A						.	G		571,3639		46,479,1580	12.0	14.0	13.0		51	-9.1	0.0	16	dbSNP_123	13	1496,6922		136,1224,2849	no	coding-synonymous	COQ7	NM_016138.4		182,1703,4429	AA,AG,GG		17.7714,13.5629,16.3684		17/218	19079037	2067,10561	2105	4209	6314	SO:0001819	synonymous_variant	10229	exon1			GCGCCCGGGGGCC	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.51G>A	16.37:g.19079037G>A		3	0		17	13	NM_016138	0	0	1	9	8	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	ENST00000321998.5	37	CCDS10574.1																																																																																			G|0.827;A|0.173		0.627	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138	
SH2B1	25970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	28878100	28878100	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:28878100G>C	ENST00000322610.8	+	4	1124	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	SH2B1_ENST00000359285.5_Missense_Mutation_p.E229Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.E229Q|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.E229Q|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	229	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.|Required for nuclear localization. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCACCGTTTTGAGAGGCTGAG	0.607																																					p.E229Q		.											.	SH2B1-92	0			c.G685C						.						34.0	36.0	35.0					16																	28878100		2197	4300	6497	SO:0001583	missense	25970	exon2			CGTTTTGAGAGGC	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.685G>C	16.37:g.28878100G>C	ENSP00000321221:p.Glu229Gln	116	0		58	10	NM_001145796	0	0	10	12	2	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335365	0.41398	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.52754	0.65;0.67;0.68;0.68	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000004	T	0.49253	0.1546	N	0.14661	0.345	0.42916	D	0.994278	D;D;D	0.63880	0.99;0.978;0.993	P;P;D	0.70227	0.792;0.733;0.968	T	0.50092	-0.8868	10	0.30854	T	0.27	-24.9209	14.9215	0.70841	0.0:0.0:1.0:0.0	.	229;229;229	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	229	ENSP00000321221:E229Q;ENSP00000352232:E229Q;ENSP00000378903:E229Q;ENSP00000337163:E229Q	ENSP00000321221:E229Q	E	+	1	0	SH2B1	28785601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.268000	0.58883	2.055000	0.61198	0.455000	0.32223	GAG	.		0.607	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
GFOD2	81577	broad.mit.edu;bcgsc.ca	37	16	67709785	67709785	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:67709785G>T	ENST00000268797.7	-	3	776	c.431C>A	c.(430-432)gCg>gAg	p.A144E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	144					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GATCATCACCGCTCCCACATA	0.602																																					p.A144E		.											.	GFOD2-93	0			c.C431A						.						96.0	82.0	87.0					16																	67709785		2198	4300	6498	SO:0001583	missense	81577	exon3			ATCACCGCTCCCA	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.431C>A	16.37:g.67709785G>T	ENSP00000268797:p.Ala144Glu	161	0		170	6	NM_030819	0	0	10	10	0	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.621260	0.00820	.	.	ENSG00000141098	ENST00000268797	T	0.36520	1.25	5.0	3.99	0.46301	.	0.493872	0.24091	N	0.041638	T	0.07638	0.0192	N	0.00146	-1.995	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	10	0.02654	T	1	-21.0262	12.348	0.55132	0.0:0.0:0.7083:0.2917	.	144	Q3B7J2	GFOD2_HUMAN	E	144	ENSP00000268797:A144E	ENSP00000268797:A144E	A	-	2	0	GFOD2	66267286	0.844000	0.29557	0.741000	0.31004	0.325000	0.28411	1.833000	0.39161	2.475000	0.83589	0.557000	0.71058	GCG	.		0.602	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		22	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
TRPV3	162514	broad.mit.edu	37	17	3432169	3432169	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:3432169G>T	ENST00000576742.1	-	10	1684	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M	TRPV3_ENST00000301365.4_Missense_Mutation_p.L455M|TRPV3_ENST00000572519.1_Missense_Mutation_p.L455M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACGAGGGTCAGGGTGATGTTG	0.577																																					p.L455M		.											.	TRPV3-94	0			c.C1363A						.						133.0	129.0	130.0					17																	3432169		2203	4300	6503	SO:0001583	missense	162514	exon10			GGGTCAGGGTGAT	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1363C>A	17.37:g.3432169G>T	ENSP00000461518:p.Leu455Met	111	1		61	3	NM_001258205	0	0	0	0	0	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478061	0.63849	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.89196	-2.48	5.12	1.56	0.23342	.	0.000000	0.52532	D	0.000073	D	0.91841	0.7418	M	0.68593	2.085	0.40738	D	0.982806	D;D;P;D;D;D;D;D	0.89917	0.998;0.962;0.874;1.0;0.994;0.999;0.998;0.999	D;P;P;D;D;D;D;D	0.71656	0.962;0.839;0.695;0.963;0.947;0.961;0.941;0.974	D	0.91118	0.4927	10	0.87932	D	0	-7.1305	9.4098	0.38485	0.3489:0.0:0.6511:0.0	.	37;439;439;455;439;455;455;455	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	M	455;455;439	ENSP00000301365:L455M	ENSP00000301365:L455M	L	-	1	2	TRPV3	3378919	0.906000	0.30813	1.000000	0.80357	0.987000	0.75469	0.733000	0.26087	0.681000	0.31386	0.655000	0.94253	CTG	.		0.577	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
NLGN2	57555	bcgsc.ca	37	17	7318935	7318935	+	Silent	SNP	C	C	T	rs12947017	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:7318935C>T	ENST00000302926.2	+	6	1216	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	NLGN2_ENST00000575301.1_Silent_p.G381G	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGCTCATCGGCGTCAACCAGG	0.587													C|||	963	0.192292	0.1036	0.2464	5008	,	,		21553	0.1835		0.3827	False		,,,				2504	0.0869				p.G381G		.											.	NLGN2-90	0			c.C1143T						.	C		663,3743	282.5+/-276.6	50,563,1590	204.0	159.0	175.0		1143	-10.8	0.0	17	dbSNP_121	175	3366,5234	499.1+/-374.9	642,2082,1576	no	coding-synonymous	NLGN2	NM_020795.2		692,2645,3166	TT,TC,CC		39.1395,15.0477,30.978		381/836	7318935	4029,8977	2203	4300	6503	SO:0001819	synonymous_variant	57555	exon6			CATCGGCGTCAAC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1143C>T	17.37:g.7318935C>T		301	2		149	8	NM_020795	0	0	0	0	0	Q9P2I1	Silent	SNP	ENST00000302926.2	37	CCDS11103.1																																																																																			C|0.720;T|0.280		0.587	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795	
CHD3	1107	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7794051	7794051	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:7794051G>A	ENST00000330494.7	+	3	526	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	CHD3_ENST00000358181.4_Missense_Mutation_p.G126R|CHD3_ENST00000380358.4_Missense_Mutation_p.G185R	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	126				GEGDGG -> PHFQQK (in Ref. 5; AAC50228). {ECO:0000305}.	centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGAGATGGGGGGCAAAAGGT	0.512																																					p.G185R		.											.	CHD3-228	0			c.G553A						.						17.0	23.0	21.0					17																	7794051		2196	4294	6490	SO:0001583	missense	1107	exon3			GATGGGGGGCAAA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.376G>A	17.37:g.7794051G>A	ENSP00000332628:p.Gly126Arg	56	1		36	17	NM_001005271	0	0	0	0	0	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303721	0.40795	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.89746	1.54;-2.55;-2.56	3.71	3.71	0.42584	.	0.000000	0.33457	U	0.004883	T	0.81823	0.4904	N	0.19112	0.55	0.46203	D	0.998923	B;B;B	0.26400	0.144;0.148;0.01	B;B;B	0.27170	0.077;0.035;0.019	T	0.80529	-0.1342	10	0.48119	T	0.1	-8.8413	15.2885	0.73849	0.0:0.0:1.0:0.0	.	126;126;185	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	R	185;126;126	ENSP00000369716:G185R;ENSP00000350907:G126R;ENSP00000332628:G126R	ENSP00000332628:G126R	G	+	1	0	CHD3	7734776	0.438000	0.25602	0.912000	0.35992	0.961000	0.63080	0.693000	0.25497	1.911000	0.55334	0.467000	0.42956	GGG	.		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
KIAA0100	9703	bcgsc.ca	37	17	26955337	26955337	+	Missense_Mutation	SNP	G	G	A	rs61743603	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:26955337G>A	ENST00000528896.2	-	24	4614	c.4540C>T	c.(4540-4542)Cct>Tct	p.P1514S	KIAA0100_ENST00000389003.3_Missense_Mutation_p.P1371S|KIAA0100_ENST00000544884.1_Missense_Mutation_p.P1371S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1514						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTAACACGAGGTGGGGCTGAG	0.507													G|||	6	0.00119808	0.0	0.0029	5008	,	,		19078	0.0		0.004	False		,,,				2504	0.0				p.P1514S		.											.	KIAA0100-93	0			c.C4540T						.	G	SER/PRO	6,4400	11.4+/-27.6	0,6,2197	149.0	131.0	137.0		4540	5.4	1.0	17	dbSNP_129	137	65,8535	39.3+/-95.6	0,65,4235	yes	missense	KIAA0100	NM_014680.3	74	0,71,6432	AA,AG,GG		0.7558,0.1362,0.5459	benign	1514/2236	26955337	71,12935	2203	4300	6503	SO:0001583	missense	9703	exon24			CACGAGGTGGGGC	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4540C>T	17.37:g.26955337G>A	ENSP00000436773:p.Pro1514Ser	231	0		119	5	NM_014680	0	0	5	5	0	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	G	12.86	2.063542	0.36373	0.001362	0.007558	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22539	1.95;1.95	5.41	5.41	0.78517	.	0.168027	0.53938	D	0.000047	T	0.13114	0.0318	L	0.44542	1.39	0.51233	D	0.999917	B	0.26935	0.164	B	0.22601	0.04	T	0.04537	-1.0944	10	0.15066	T	0.55	.	15.0839	0.72135	0.0:0.1831:0.8169:0.0	rs61743603	1514	Q14667	K0100_HUMAN	S	1514;1484;1514;1371	ENSP00000436773:P1514S;ENSP00000446443:P1371S	ENSP00000005905:P1514S	P	-	1	0	KIAA0100	23979464	1.000000	0.71417	0.988000	0.46212	0.353000	0.29299	3.582000	0.53921	2.549000	0.85964	0.563000	0.77884	CCT	G|0.995;A|0.005		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
TOP2A	7153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38555090	38555090	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:38555090C>G	ENST00000423485.1	-	26	3546	c.3388G>C	c.(3388-3390)Gat>Cat	p.D1130H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1130					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGGGGCATATCAAGAAGATAG	0.393																																					p.D1130H		.											.	TOP2A-655	0			c.G3388C						.						182.0	163.0	169.0					17																	38555090		1846	4094	5940	SO:0001583	missense	7153	exon26			GCATATCAAGAAG		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3388G>C	17.37:g.38555090C>G	ENSP00000411532:p.Asp1130His	123	0		104	26	NM_001067	0	0	1	6	5	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460761	0.63513	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22743	1.94	6.05	6.05	0.98169	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.170587	0.64402	D	0.000004	T	0.15435	0.0372	N	0.17474	0.49	0.45791	D	0.998672	B	0.23249	0.082	B	0.33121	0.158	T	0.07673	-1.0760	10	0.72032	D	0.01	.	7.9601	0.30066	0.0:0.8154:0.0:0.1846	.	1130	P11388	TOP2A_HUMAN	H	1130;1210;1153;1166	ENSP00000411532:D1130H	ENSP00000269577:D1210H	D	-	1	0	TOP2A	35808616	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.614000	0.61183	2.878000	0.98634	0.650000	0.86243	GAT	.		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
ATP6V0A1	535	broad.mit.edu	37	17	40651060	40651060	+	Splice_Site	SNP	T	T	C	rs149805487	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:40651060T>C	ENST00000343619.4	+	15	1802	c.1679T>C	c.(1678-1680)aTc>aCc	p.I560T	RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000585525.1_Splice_Site_p.I517T|ATP6V0A1_ENST00000264649.6_Splice_Site_p.I567T|ATP6V0A1_ENST00000537728.1_Splice_Site_p.I517T|ATP6V0A1_ENST00000546249.1_Splice_Site_p.I560T|ATP6V0A1_ENST00000544137.1_Splice_Site_p.I206T|ATP6V0A1_ENST00000393829.2_Splice_Site_p.I560T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	560					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCAACCATATGTGAGTTGTT	0.368													T|||	3	0.000599042	0.0	0.0	5008	,	,		16973	0.0		0.001	False		,,,				2504	0.002				p.I567T		.											.	ATP6V0A1-91	0			c.T1700C						.	T	THR/ILE,THR/ILE,THR/ILE	4,4402	8.1+/-20.4	0,4,2199	267.0	243.0	251.0		1700,1679,1679	0.9	0.9	17	dbSNP_134	251	25,8575	16.6+/-54.9	0,25,4275	yes	missense-near-splice,missense-near-splice,missense-near-splice	ATP6V0A1	NM_001130020.1,NM_001130021.1,NM_005177.3	89,89,89	0,29,6474	CC,CT,TT		0.2907,0.0908,0.223	benign,benign,benign	567/839,560/838,560/832	40651060	29,12977	2203	4300	6503	SO:0001630	splice_region_variant	535	exon15			ACCATATGTGAGT	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1679+1T>C	17.37:g.40651060T>C		184	0		180	6	NM_001130020	0	0	0	0	0	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	7.485	0.649530	0.14516	9.08E-4	0.002907	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.76	0.952	0.19584	.	0.343207	0.34291	N	0.004099	D	0.87565	0.6209	L	0.59912	1.85	0.54753	D	0.999981	B;B;B;P;P	0.49253	0.005;0.012;0.002;0.656;0.921	B;B;B;P;P	0.56088	0.01;0.057;0.023;0.609;0.791	T	0.82311	-0.0520	10	0.22706	T	0.39	-2.65	9.8396	0.40991	0.0:0.2686:0.0:0.7314	.	517;517;567;560;560	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	T	560;560;560;567;517;206	ENSP00000342951:I560T;ENSP00000444676:I560T;ENSP00000377415:I560T;ENSP00000264649:I567T;ENSP00000443991:I517T;ENSP00000446377:I206T	ENSP00000264649:I567T	I	+	2	0	ATP6V0A1	37904586	0.997000	0.39634	0.858000	0.33744	0.511000	0.34104	0.373000	0.20484	0.112000	0.17975	0.533000	0.62120	ATC	T|0.998;C|0.002		0.368	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	Missense_Mutation
COL1A1	1277	broad.mit.edu;bcgsc.ca	37	17	48277173	48277173	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:48277173T>C	ENST00000225964.5	-	2	357	c.239A>G	c.(238-240)aAc>aGc	p.N80S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	80	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCCGGGGCAGTTCTTGGTCTC	0.687			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.N80S		.		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	COL1A1-986	0			c.A239G						.						120.0	119.0	120.0					17																	48277173		2203	4300	6503	SO:0001583	missense	1277	exon2			GGGCAGTTCTTGG	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.239A>G	17.37:g.48277173T>C	ENSP00000225964:p.Asn80Ser	90	1		65	12	NM_000088	0	0	4	4	0	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793716	0.90453	.	.	ENSG00000108821	ENST00000225964	T	0.63913	-0.07	5.56	5.56	0.83823	von Willebrand factor, type C (4);	0.213009	0.38778	N	0.001568	T	0.50667	0.1629	N	0.25245	0.725	0.31484	N	0.666824	B	0.16396	0.017	B	0.19391	0.025	T	0.57837	-0.7742	10	0.59425	D	0.04	.	14.697	0.69129	0.0:0.0:0.0:1.0	.	80	P02452	CO1A1_HUMAN	S	80	ENSP00000225964:N80S	ENSP00000225964:N80S	N	-	2	0	COL1A1	45632172	1.000000	0.71417	0.062000	0.19696	0.263000	0.26337	7.933000	0.87642	2.114000	0.64651	0.454000	0.30748	AAC	.		0.687	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
MED13	9969	broad.mit.edu	37	17	60107244	60107244	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:60107244C>A	ENST00000397786.2	-	7	1216	c.1140G>T	c.(1138-1140)tgG>tgT	p.W380C	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	380					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCATTCTTGCCAAACTCTAT	0.333																																					p.W380C		.											.	MED13-136	0			c.G1140T						.						167.0	150.0	155.0					17																	60107244		1853	4114	5967	SO:0001583	missense	9969	exon7			TTCTTGCCAAACT	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1140G>T	17.37:g.60107244C>A	ENSP00000380888:p.Trp380Cys	87	0		109	4	NM_005121	0	0	0	0	0	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300784	0.40694	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.78003	-1.14	5.28	5.28	0.74379	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89903	0.4046	10	0.62326	D	0.03	-0.043	18.9006	0.92440	0.0:1.0:0.0:0.0	.	380	Q9UHV7	MED13_HUMAN	C	380;379	ENSP00000380888:W380C	ENSP00000262436:W379C	W	-	3	0	MED13	57462026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.456000	0.83038	0.462000	0.41574	TGG	.		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
FTSJ3	117246	bcgsc.ca	37	17	61901197	61901197	+	Missense_Mutation	SNP	T	T	A	rs2727288	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:61901197T>A	ENST00000427159.2	-	13	1915	c.1270A>T	c.(1270-1272)Agc>Tgc	p.S424C		NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGGATGGTGCTCAAGGAGAAC	0.577													G|||	3638	0.726438	0.9569	0.6787	5008	,	,		16633	0.5556		0.5984	False		,,,				2504	0.7566				p.S424C		.											.	FTSJ3-91	0			c.A1270T						.	G	CYS/SER	3940,466		1759,422,22	131.0	126.0	127.0		1270	4.7	0.9	17	dbSNP_100	127	5216,3384		1599,2018,683	yes	missense	FTSJ3	NM_017647.3	112	3358,2440,705	AA,AT,TT		39.3488,10.5765,29.6017	benign	424/848	61901197	9156,3850	2203	4300	6503	SO:0001583	missense	117246	exon13			TGGTGCTCAAGGA	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"""SPB1 RNA methyltransferase homolog (S. cerevisiae)"""						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1270A>T	17.37:g.61901197T>A	ENSP00000396673:p.Ser424Cys	106	0		78	4	NM_017647	0	0	22	22	0		Missense_Mutation	SNP	ENST00000427159.2	37	CCDS11644.1	1488	0.6813186813186813	470	0.9552845528455285	229	0.6325966850828729	333	0.5821678321678322	456	0.6015831134564644	G	6.589	0.477083	0.12521	0.894235	0.606512	ENSG00000108592	ENST00000427159	T	0.33216	1.42	5.65	4.68	0.58851	.	0.266108	0.37857	N	0.001907	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.39624	0.681	B	0.35971	0.215	T	0.18999	-1.0319	9	0.72032	D	0.01	-3.2134	8.945	0.35753	0.0769:0.0:0.7739:0.1492	rs2727288;rs3744292;rs11549663;rs17639101;rs17844828;rs17857126;rs17857539;rs52805130;rs56861461;rs2727288	424	Q8IY81	RRMJ3_HUMAN	C	424	ENSP00000396673:S424C	ENSP00000396673:S424C	S	-	1	0	FTSJ3	59254929	0.000000	0.05858	0.934000	0.37439	0.950000	0.60333	0.028000	0.13644	0.948000	0.37687	-0.121000	0.15023	AGC	T|0.406;A|0.594		0.577	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1		
TEX2	55852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	62254810	62254810	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:62254810C>G	ENST00000583097.1	-	6	2618	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	TEX2_ENST00000258991.3_Missense_Mutation_p.E823Q|TEX2_ENST00000584379.1_Missense_Mutation_p.E816Q			Q8IWB9	TEX2_HUMAN	testis expressed 2	816	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCTTCCTCCTCAGAGGGTGGA	0.428																																					p.E823Q		.											.	TEX2-91	0			c.G2467C						.						130.0	140.0	136.0					17																	62254810		2203	4300	6503	SO:0001583	missense	55852	exon6			CCTCCTCAGAGGG	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2446G>C	17.37:g.62254810C>G	ENSP00000462665:p.Glu816Gln	42	0		50	12	NM_018469	0	0	9	12	3	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	C	15.99	2.996772	0.54147	.	.	ENSG00000136478	ENST00000258991	T	0.49432	0.78	5.52	5.52	0.82312	.	0.306182	0.36374	N	0.002637	T	0.44286	0.1286	L	0.43152	1.355	0.49299	D	0.999777	B;B	0.20887	0.049;0.029	B;B	0.17098	0.017;0.008	T	0.20405	-1.0276	10	0.29301	T	0.29	-14.5879	19.8327	0.96642	0.0:1.0:0.0:0.0	.	823;816	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Q	823	ENSP00000258991:E823Q	ENSP00000258991:E823Q	E	-	1	0	TEX2	59608542	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.639000	0.67868	2.753000	0.94483	0.655000	0.94253	GAG	.		0.428	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	
RECQL5	9400	broad.mit.edu	37	17	73627242	73627242	+	Missense_Mutation	SNP	C	C	T	rs201834853		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:73627242C>T	ENST00000317905.5	-	10	1695	c.1536G>A	c.(1534-1536)atG>atA	p.M512I	RECQL5_ENST00000423245.2_Missense_Mutation_p.M485I|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	512	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCGCAGCTGCATCTGCTTCT	0.632								Other identified genes with known or suspected DNA repair function					C|||	1	0.000199681	0.0	0.0	5008	,	,		16511	0.0		0.001	False		,,,				2504	0.0				p.M512I		.											.	RECQL5-538	0			c.G1536A						.	C	ILE/MET	0,4376		0,0,2188	51.0	56.0	55.0		1536	4.7	1.0	17		55	10,8548		0,10,4269	yes	missense	RECQL5	NM_004259.6	10	0,10,6457	TT,TC,CC		0.1168,0.0,0.0773	probably-damaging	512/992	73627242	10,12924	2188	4279	6467	SO:0001583	missense	9400	exon10			CAGCTGCATCTGC	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1536G>A	17.37:g.73627242C>T	ENSP00000317636:p.Met512Ile	123	0		70	3	NM_004259	0	0	0	0	0	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858029	0.51376	0.0	0.001168	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.57595	0.39	5.69	4.66	0.58398	.	0.131699	0.64402	D	0.000003	T	0.61640	0.2363	M	0.67953	2.075	0.80722	D	1	P;P	0.51933	0.949;0.822	P;P	0.52267	0.694;0.459	T	0.63097	-0.6713	10	0.46703	T	0.11	-20.6459	14.5647	0.68168	0.1467:0.8533:0.0:0.0	.	512;485	O94762;Q6P4G0	RECQ5_HUMAN;.	I	107;512;512	ENSP00000317636:M512I	ENSP00000317636:M512I	M	-	3	0	RECQL5	71138837	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	5.455000	0.66658	2.692000	0.91855	0.563000	0.77884	ATG	C|0.999;T|0.001		0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
CBX8	57332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	77769859	77769861	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	GAG	GAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:77769859_77769861delGAG	ENST00000269385.4	-	4	358_360	c.241_243delCTC	c.(241-243)ctcdel	p.L81del	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	81					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AACCTACTTTGAGGAGGAAGGTT	0.522																																					p.81_81del		.											.	CBX8-226	0			c.241_243del						.																																			SO:0001651	inframe_deletion	57332	exon4			TACTTTGAGGAGG	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.241_243delCTC	17.37:g.77769862_77769864delGAG	ENSP00000269385:p.Leu81del	175	0		118	21	NM_020649	0	0	0	0	0	Q96H39|Q9NR07	In_Frame_Del	DEL	ENST00000269385.4	37	CCDS11765.1																																																																																			.		0.522	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649	
AATK	9625	hgsc.bcm.edu	37	17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	rs61738821	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.A438T|AATK_ENST00000572339.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2.0	2.0	2.0					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	0	0		18	9	NM_001080395	0	0	0	1	1	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920	
FASN	2194	hgsc.bcm.edu	37	17	80043739	80043739	+	Silent	SNP	A	A	G	rs2229422	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr17:80043739A>G	ENST00000306749.2	-	23	3959	c.3741T>C	c.(3739-3741)gcT>gcC	p.A1247A	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1247					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GACCGTGGCCAGCCAGCACCT	0.662													.|||	1182	0.236022	0.1997	0.2032	5008	,	,		16566	0.2877		0.3121	False		,,,				2504	0.1769				p.A1247A	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.T3741C						.	A		966,3322		118,730,1296	9.0	9.0	9.0		3741	-6.6	0.1	17	dbSNP_98	9	2628,5830		429,1770,2030	no	coding-synonymous	FASN	NM_004104.4		547,2500,3326	GG,GA,AA		31.0712,22.528,28.1971		1247/2512	80043739	3594,9152	2144	4229	6373	SO:0001819	synonymous_variant	2194	exon23			GTGGCCAGCCAGC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3741T>C	17.37:g.80043739A>G		2	0		6	5	NM_004104	0	0	0	0	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			T|0.697;G|0.014;C|0.242;A|0.047		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
CABLES1	91768	hgsc.bcm.edu	37	18	20716258	20716258	+	Missense_Mutation	SNP	G	G	A	rs200098768	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr18:20716258G>A	ENST00000256925.7	+	1	532	c.532G>A	c.(532-534)Gag>Aag	p.E178K	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	178					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGCGTCGGGGGAGCAGTGGCA	0.781													G|||	14	0.00279553	0.0008	0.0	5008	,	,		5921	0.0		0.0089	False		,,,				2504	0.0041				p.E178K		.											.	CABLES1-522	0			c.G532A						.																																			SO:0001583	missense	91768	exon1			TCGGGGGAGCAGT	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.532G>A	18.37:g.20716258G>A	ENSP00000256925:p.Glu178Lys	0	0		6	5	NM_001100619	0	0	0	0	0	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	g	17.51	3.408367	0.62399	.	.	ENSG00000134508	ENST00000256925	T	0.56275	0.47	3.21	3.21	0.36854	.	0.657661	0.11980	U	0.510841	T	0.36220	0.0959	L	0.36672	1.1	0.37798	D	0.927612	B	0.30914	0.3	B	0.23275	0.045	T	0.17048	-1.0382	10	0.10377	T	0.69	-44.587	9.7973	0.40742	0.0:0.0:1.0:0.0	.	178	Q8TDN4	CABL1_HUMAN	K	178	ENSP00000256925:E178K	ENSP00000256925:E178K	E	+	1	0	CABLES1	18970256	0.246000	0.23909	0.845000	0.33349	0.287000	0.27160	2.514000	0.45503	1.642000	0.50584	0.437000	0.28790	GAG	.		0.781	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	
CBLN2	147381	hgsc.bcm.edu	37	18	70209321	70209321	+	Silent	SNP	C	C	A	rs7237888	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5.0	7.0	6.0		75	-0.8	1.0	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		0	0		11	11	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
CACTIN	58509	hgsc.bcm.edu	37	19	3613346	3613346	+	Missense_Mutation	SNP	G	G	A	rs2074789	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:3613346G>A	ENST00000429344.2	-	9	1548	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	CACTIN_ENST00000248420.5_Missense_Mutation_p.A499V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.A431V	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	499				A -> V (in Ref. 4; AAH19848). {ECO:0000305}.	cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGTGGGCGCCGCGTCCTCAGG	0.781													G|||	2156	0.430511	0.3018	0.6037	5008	,	,		8769	0.3294		0.5795	False		,,,				2504	0.4325				p.A499V		.											.	.	0			c.C1496T						.	G	VAL/ALA,VAL/ALA	1466,1576		408,650,463	4.0	5.0	5.0		1496,1496	-5.6	0.0	19	dbSNP_96	5	4326,2414		1492,1342,536	yes	missense,missense	C19orf29	NM_001080543.1,NM_021231.1	64,64	1900,1992,999	AA,AG,GG		35.816,48.192,40.7892	benign,benign	499/759,499/759	3613346	5792,3990	1521	3370	4891	SO:0001583	missense	58509	exon9			GGCGCCGCGTCCT	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1496C>T	19.37:g.3613346G>A	ENSP00000415078:p.Ala499Val	0	0		5	5	NM_021231	0	0	0	0	0	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	CCDS45920.1	1016|1016	0.4652014652014652|0.4652014652014652	166|166	0.33739837398373984|0.33739837398373984	219|219	0.6049723756906077|0.6049723756906077	189|189	0.3304195804195804|0.3304195804195804	442|442	0.58311345646438|0.58311345646438	G|G	10.30|10.30	1.311266|1.311266	0.23821|0.23821	0.48192|0.48192	0.64184|0.64184	ENSG00000105298|ENSG00000226800	ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295	.|.	.|.	.|.	3.38|3.38	-5.6|-5.6	0.02497|0.02497	.|.	2.059910|.	0.01925|.	N|.	0.040837|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.26602|.	0.116;0.154|.	B;B|.	0.18561|.	0.022;0.004|.	T|T	0.46952|0.46952	-0.9154|-0.9154	8|4	0.30078|.	T|.	0.28|.	.|.	0.7428|0.7428	0.00977|0.00977	0.2199:0.145:0.1962:0.4388|0.2199:0.145:0.1962:0.4388	rs2074789;rs11557007|rs2074789;rs11557007	499;499|.	Q8WUQ7-2;Q8WUQ7|.	.;CS029_HUMAN|.	V|H	499;499;431|325	.|.	ENSP00000221899:A431V|.	A|R	-|+	2|2	0|0	C19orf29|C19orf29OS	3564346|3564346	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	-1.122000|-1.122000	0.03267|0.03267	-0.535000|-0.535000	0.06307|0.06307	-0.258000|-0.258000	0.10820|0.10820	GCG|CGC	G|0.535;A|0.465		0.781	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2		
C19orf10	56005	hgsc.bcm.edu	37	19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	rs2270090	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4.0	5.0	4.0		34	-4.8	0.0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"""interleukin 27 working designation"""	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	0	0		20	9	NM_019107	0	0	2	4	2	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107	
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8130961	8130961	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:8130961C>T	ENST00000600128.1	-	64	8686	c.8272G>A	c.(8272-8274)Gtc>Atc	p.V2758I	FBN3_ENST00000601739.1_Missense_Mutation_p.V2758I|FBN3_ENST00000270509.2_Missense_Mutation_p.V2758I			Q75N90	FBN3_HUMAN	fibrillin 3	2758						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGAGCTGACGCCACGGAGG	0.687																																					p.V2758I		.											.	FBN3-100	0			c.G8272A						.						60.0	62.0	61.0					19																	8130961		2203	4300	6503	SO:0001583	missense	84467	exon63			AGCTGACGCCACG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8272G>A	19.37:g.8130961C>T	ENSP00000470498:p.Val2758Ile	62	0		122	21	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373539	0.01214	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87029	-2.2	4.66	-0.0756	0.13726	.	0.382786	0.25280	U	0.031811	T	0.62295	0.2416	N	0.03608	-0.345	0.09310	N	1	B;B	0.22414	0.008;0.069	B;B	0.11329	0.002;0.006	T	0.55186	-0.8180	10	0.05959	T	0.93	.	6.5022	0.22176	0.233:0.1299:0.6371:0.0	.	2758;821	Q75N90;Q6ZNB8	FBN3_HUMAN;.	I	2758;821	ENSP00000270509:V2758I	ENSP00000270509:V2758I	V	-	1	0	FBN3	8036961	0.016000	0.18221	0.010000	0.14722	0.004000	0.04260	0.156000	0.16382	-0.091000	0.12440	-1.383000	0.01170	GTC	.		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
CD320	51293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8370031	8370031	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:8370031G>C	ENST00000301458.5	-	2	216	c.152C>G	c.(151-153)tCa>tGa	p.S51*	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	51					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GCACGAGCCTGAGCTGGGGCC	0.622																																					p.S51X		.											.	CD320-90	0			c.C152G						.						54.0	46.0	49.0					19																	8370031		2203	4300	6503	SO:0001587	stop_gained	51293	exon2			GAGCCTGAGCTGG	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.152C>G	19.37:g.8370031G>C	ENSP00000301458:p.Ser51*	59	0		51	15	NM_016579	0	0	7	9	2	B2RDS5|D6W668|F5H6D3|Q53HF7	Nonsense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036107	0.75617	.	.	ENSG00000167775	ENST00000301458	.	.	.	4.81	1.38	0.22167	.	1.041250	0.07653	N	0.932202	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	7.1043	5.3536	0.16050	0.1901:0.1676:0.6423:0.0	.	.	.	.	X	51	.	ENSP00000301458:S51X	S	-	2	0	CD320	8276031	0.284000	0.24287	0.079000	0.20413	0.131000	0.20780	1.426000	0.34870	0.282000	0.22254	0.609000	0.83330	TCA	.		0.622	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	
KANK3	256949	hgsc.bcm.edu	37	19	8400651	8400651	+	Silent	SNP	C	C	G	rs11669559	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:8400651C>G	ENST00000593649.1	-	3	125	c.60G>C	c.(58-60)ccG>ccC	p.P20P	KANK3_ENST00000330915.3_Silent_p.P20P			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	20										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						cggcggggaccgggcacaggc	0.692													C|||	700	0.139776	0.2466	0.1297	5008	,	,		8967	0.0327		0.1272	False		,,,				2504	0.1258				p.P20P		.											.	KANK3-90	0			c.G60C						.						1.0	1.0	1.0					19																	8400651		1078	2073	3151	SO:0001819	synonymous_variant	256949	exon3			GGGGACCGGGCAC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.60G>C	19.37:g.8400651C>G		0	0		13	13	NM_198471	0	0	0	1	1	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				C|0.880;G|0.120		0.692	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471	
CDC37	11140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10506791	10506791	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:10506791C>A	ENST00000222005.2	-	2	244	c.191G>T	c.(190-192)tGc>tTc	p.C64F		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	64					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTCCTCTGGCACTCGGCCAC	0.682																																					p.C64F		.											.	CDC37-522	0			c.G191T						.						83.0	87.0	86.0					19																	10506791		2203	4300	6503	SO:0001583	missense	11140	exon2			CTCTGGCACTCGG	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.191G>T	19.37:g.10506791C>A	ENSP00000222005:p.Cys64Phe	169	0		237	42	NM_007065	0	0	187	216	29	Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435675	0.25813	.	.	ENSG00000105401	ENST00000222005	T	0.42131	0.98	4.11	4.11	0.48088	Cdc37, N-terminal (1);	0.261494	0.36740	N	0.002437	T	0.33498	0.0865	L	0.40543	1.245	0.41132	D	0.985895	P;P	0.39022	0.655;0.655	B;B	0.34536	0.185;0.185	T	0.36187	-0.9758	10	0.56958	D	0.05	.	14.2027	0.65714	0.0:1.0:0.0:0.0	.	64;64	Q6FG59;Q16543	.;CDC37_HUMAN	F	64	ENSP00000222005:C64F	ENSP00000222005:C64F	C	-	2	0	CDC37	10367791	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	3.167000	0.50793	2.013000	0.59113	0.555000	0.69702	TGC	.		0.682	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
PGLS	25796	hgsc.bcm.edu	37	19	17622614	17622614	+	Silent	SNP	C	C	T	rs11086075	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2.0	2.0	2.0		133	2.6	1.0	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		0	0		23	11	NM_012088	0	0	5	12	7		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		
UQCRFS1	7386	hgsc.bcm.edu	37	19	29704002	29704002	+	Silent	SNP	T	T	C	rs11666764	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1.0	2.0	2.0					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		0	0		6	6	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
UQCRFS1	7386	hgsc.bcm.edu	37	19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C	rs8100724	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1.0	2.0	2.0					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	0	0		6	6	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
LRP3	4037	broad.mit.edu	37	19	33697148	33697148	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:33697148C>A	ENST00000253193.7	+	5	1674	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	491					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGGTGCCTGGCCGCCGTGCCC	0.657																																					p.A491D		.											.	LRP3-92	0			c.C1472A						.						25.0	24.0	24.0					19																	33697148		2201	4295	6496	SO:0001583	missense	4037	exon5			GCCTGGCCGCCGT	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1472C>A	19.37:g.33697148C>A	ENSP00000253193:p.Ala491Asp	34	1		121	5	NM_002333	0	1	25	29	3	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465928	0.26335	.	.	ENSG00000130881	ENST00000253193	D	0.88046	-2.33	5.35	4.32	0.51571	.	0.122179	0.56097	D	0.000040	T	0.79411	0.4441	L	0.38175	1.15	0.43761	D	0.996271	P;D	0.56521	0.949;0.976	B;B	0.43990	0.326;0.438	T	0.76921	-0.2780	10	0.36615	T	0.2	-27.0604	5.7648	0.18221	0.0:0.7471:0.0:0.2529	.	491;409	O75074;B7ZAJ9	LRP3_HUMAN;.	D	491	ENSP00000253193:A491D	ENSP00000253193:A491D	A	+	2	0	LRP3	38388988	0.995000	0.38212	0.962000	0.40283	0.356000	0.29392	2.959000	0.49153	2.518000	0.84900	0.491000	0.48974	GCC	.		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
LRP3	4037	hgsc.bcm.edu	37	19	33698018	33698018	+	Missense_Mutation	SNP	C	C	T	rs11539586	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:33698018C>T	ENST00000253193.7	+	7	2052	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	617					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGCCGCGGGCGCCCCGAGGC	0.751													c|||	306	0.0611022	0.0598	0.0303	5008	,	,		10346	0.0446		0.0348	False		,,,				2504	0.1288				p.A617V		.											.	LRP3-92	0			c.C1850T						.	T	VAL/ALA	150,3256		0,150,1553	2.0	3.0	3.0		1850	1.1	0.1	19	dbSNP_120	3	222,6744		4,214,3265	no	missense	LRP3	NM_002333.3	64	4,364,4818	TT,TC,CC		3.1869,4.404,3.5866	benign	617/771	33698018	372,10000	1703	3483	5186	SO:0001583	missense	4037	exon7			CGCGGGCGCCCCG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1850C>T	19.37:g.33698018C>T	ENSP00000253193:p.Ala617Val	0	0		20	16	NM_002333	0	0	5	11	6	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	71	0.03250915750915751	23	0.046747967479674794	8	0.022099447513812154	15	0.026223776223776224	25	0.032981530343007916	c	1.581	-0.531531	0.04112	0.04404	0.031869	ENSG00000130881	ENST00000253193	D	0.87256	-2.23	3.32	1.14	0.20703	.	0.411391	0.20707	N	0.087178	T	0.38268	0.1034	L	0.38175	1.15	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.38562	0.001;0.276	T	0.55952	-0.8059	10	0.27785	T	0.31	-5.3016	8.5568	0.33487	0.0:0.7835:0.0:0.2165	rs11539586	617;535	O75074;B7ZAJ9	LRP3_HUMAN;.	V	617	ENSP00000253193:A617V	ENSP00000253193:A617V	A	+	2	0	LRP3	38389858	0.435000	0.25577	0.147000	0.22382	0.046000	0.14306	1.013000	0.29937	0.098000	0.17522	-3.141000	0.00059	GCG	T|0.000;G|0.967		0.751	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
KMT2B	9757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36212357	36212357	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:36212357G>C	ENST00000222270.7	+	3	2108	c.2108G>C	c.(2107-2109)aGc>aCc	p.S703T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.A559P|KMT2B_ENST00000420124.1_Missense_Mutation_p.S703T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	703	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AACCACCTCAGCCTGCCTCGA	0.662																																					p.S703T		.											.	MLL4-697	0			c.G2108C						.						24.0	31.0	28.0					19																	36212357		2071	4203	6274	SO:0001583	missense	8085	exon3			ACCTCAGCCTGCC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2108G>C	19.37:g.36212357G>C	ENSP00000222270:p.Ser703Thr	129	0		125	18	NM_014727	0	0	0	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.75|16.75	3.208619|3.208619	0.58343|0.58343	.|.	.|.	ENSG00000105663|ENSG00000105663	ENST00000341701|ENST00000222270;ENST00000420124	T|D;D	0.50277|0.84442	0.75|-1.85;-1.85	4.93|4.93	3.89|3.89	0.44902|0.44902	.|.	.|0.136287	.|0.33631	.|N	.|0.004716	T|T	0.75004|0.75004	0.3791|0.3791	N|N	0.19112|0.19112	0.55|0.55	0.29440|0.29440	N|N	0.859206|0.859206	.|B	.|0.19200	.|0.034	.|B	.|0.21546	.|0.035	T|T	0.68815|0.68815	-0.5309|-0.5309	7|10	0.87932|0.40728	D|T	0|0.16	.|.	12.1354|12.1354	0.53968|0.53968	0.0:0.0:0.8281:0.1719|0.0:0.0:0.8281:0.1719	.|.	.|703	.|Q9UMN6	.|MLL4_HUMAN	P|T	559|703	ENSP00000345761:A559P|ENSP00000222270:S703T;ENSP00000398837:S703T	ENSP00000345761:A559P|ENSP00000222270:S703T	A|S	+|+	1|2	0|0	AD000671.1|AD000671.1	40904197|40904197	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.376000|1.376000	0.34306|0.34306	1.323000|1.323000	0.45263|0.45263	-0.234000|-0.234000	0.12200|0.12200	GCC|AGC	.		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
PRODH2	58510	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36303397	36303397	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:36303397G>A	ENST00000301175.3	-	3	481	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	155					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.S155Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATAGACGGATGCTCGGAG	0.662																																					p.S155F		.											.	PRODH2-92	1	Substitution - Missense(1)	kidney(1)	c.C464T						.						30.0	33.0	32.0					19																	36303397		2203	4300	6503	SO:0001583	missense	58510	exon3			TAGACGGATGCTC	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.464C>T	19.37:g.36303397G>A	ENSP00000301175:p.Ser155Phe	190	2		215	32	NM_021232	0	0	0	0	0		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295790	0.60086	.	.	ENSG00000250799	ENST00000301175	T	0.77750	-1.12	5.57	5.57	0.84162	.	.	.	.	.	D	0.83298	0.5224	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	D	0.84286	0.0497	9	0.62326	D	0.03	.	17.0465	0.86505	0.0:0.0:1.0:0.0	.	155	Q9UF12	PROD2_HUMAN	F	155	ENSP00000301175:S155F	ENSP00000301175:S155F	S	-	2	0	PRODH2	40995237	1.000000	0.71417	0.953000	0.39169	0.115000	0.19883	4.782000	0.62396	2.618000	0.88619	0.591000	0.81541	TCC	.		0.662	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	
RINL	126432	hgsc.bcm.edu	37	19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	rs8110393	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.P288L			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4.0	4.0	4.0		1205,863	3.5	1.0	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	0	0		15	10	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445	
ZNF45	7596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44419275	44419275	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:44419275A>C	ENST00000269973.5	-	10	1403	c.313T>G	c.(313-315)Tcc>Gcc	p.S105A	ZNF45_ENST00000589703.1_Missense_Mutation_p.S105A|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	105					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CAGATCTGGGAGCAGAAAAGC	0.388																																					p.S105A		.											.	ZNF45-91	0			c.T313G						.						70.0	69.0	70.0					19																	44419275		2203	4300	6503	SO:0001583	missense	7596	exon10			TCTGGGAGCAGAA	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.313T>G	19.37:g.44419275A>C	ENSP00000269973:p.Ser105Ala	40	0		36	8	NM_003425	0	0	2	4	2	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	A	1.722	-0.496246	0.04291	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.06933	3.24	3.96	1.65	0.23941	.	0.317848	0.17634	N	0.167282	T	0.04679	0.0127	L	0.27053	0.805	0.09310	N	1	P	0.37864	0.61	B	0.35510	0.204	T	0.36625	-0.9740	10	0.26408	T	0.33	-0.7535	4.253	0.10703	0.7151:0.0:0.1066:0.1783	.	105	Q02386	ZNF45_HUMAN	A	105	ENSP00000269973:S105A	ENSP00000269973:S105A	S	-	1	0	ZNF45	49111115	0.003000	0.15002	0.983000	0.44433	0.655000	0.38815	0.686000	0.25392	0.684000	0.31448	0.260000	0.18958	TCC	.		0.388	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425	
TPRX1	284355	ucsc.edu	37	19	48305650	48305650	+	Silent	SNP	C	C	T	rs112397458		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:48305650C>T	ENST00000322175.3	-	2	773	c.618G>A	c.(616-618)ccG>ccA	p.P206P	TPRX1_ENST00000535759.1_Silent_p.P303P|TPRX1_ENST00000543508.1_Silent_p.P196P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	206	Gly-rich.			P -> L (in Ref. 1; BAC05130). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcctgggatcgggcctggga	0.677																																					p.P206P	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.G618A						.	T		31,3587		0,31,1778	12.0	9.0	10.0		618	-0.8	0.0	19	dbSNP_132	10	264,6594		0,264,3165	no	coding-synonymous	TPRX1	NM_198479.2		0,295,4943	TT,TC,CC		3.8495,0.8568,2.816		206/412	48305650	295,10181	1809	3429	5238	SO:0001819	synonymous_variant	284355	exon2			TGGGATCGGGCCT		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.618G>A	19.37:g.48305650C>T		34	0		31	10	NM_198479	0	0	0	0	0	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			C|0.912;T|0.088		0.677	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479	
ZNF701	55762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53085521	53085521	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:53085521A>T	ENST00000540331.1	+	5	632	c.407A>T	c.(406-408)cAc>cTc	p.H136L	ZNF701_ENST00000391785.3_Missense_Mutation_p.H70L|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.H136L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	136	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GAAGTGGTCCACACAGGGACA	0.368																																					p.H136L	NSCLC(89;451 1475 9611 20673 52284)	.											.	ZNF701-90	0			c.A407T						.						98.0	95.0	96.0					19																	53085521		2203	4300	6503	SO:0001583	missense	55762	exon5			TGGTCCACACAGG	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.407A>T	19.37:g.53085521A>T	ENSP00000444339:p.His136Leu	246	0		253	47	NM_001172655	0	0	1	1	0	A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	5.584	0.292637	0.10567	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05258	3.47;3.5;3.5	2.11	2.11	0.27256	Krueppel-associated box (1);	.	.	.	.	T	0.05044	0.0135	N	0.20685	0.6	0.09310	N	1	B;B	0.24651	0.108;0.0	B;B	0.33799	0.17;0.001	T	0.41610	-0.9499	9	0.56958	D	0.05	.	3.7167	0.08441	0.8027:0.0:0.1973:0.0	.	136;70	F5GZM6;Q9NV72	.;ZN701_HUMAN	L	70;136;136	ENSP00000375662:H70L;ENSP00000301093:H136L;ENSP00000444339:H136L	ENSP00000301093:H136L	H	+	2	0	ZNF701	57777333	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	0.230000	0.17852	0.829000	0.34733	0.254000	0.18369	CAC	.		0.368	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
LILRA4	23547	ucsc.edu	37	19	54848121	54848121	+	Missense_Mutation	SNP	C	C	T	rs141881690	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:54848121C>T	ENST00000291759.4	-	6	1302	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	416					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGAGACCACGAGCTCCAGG	0.597													C|||	158	0.0315495	0.0613	0.0101	5008	,	,		18423	0.0		0.0109	False		,,,				2504	0.0603				p.V416M		.											.	LILRA4-91	0			c.G1246A						.						80.0	67.0	71.0					19																	54848121		2203	4300	6503	SO:0001583	missense	23547	exon6			AGACCACGAGCTC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1246G>A	19.37:g.54848121C>T	ENSP00000291759:p.Val416Met	110	3		127	14	NM_012276	0	0	0	0	0	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504546	0.12822	.	.	ENSG00000239961	ENST00000291759	T	0.00848	5.62	2.4	-4.8	0.03190	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.277830	0.01713	N	0.027839	T	0.01489	0.0048	M	0.61703	1.905	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.42816	-0.9429	10	0.33141	T	0.24	.	7.5849	0.27987	0.0:0.1789:0.6361:0.185	.	416	P59901	LIRA4_HUMAN	M	416	ENSP00000291759:V416M	ENSP00000291759:V416M	V	-	1	0	LILRA4	59539933	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-4.042000	0.00307	-1.656000	0.01495	0.455000	0.32223	GTG	C|0.984;T|0.016		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
GP6	51206	hgsc.bcm.edu	37	19	55525497	55525497	+	3'UTR	SNP	A	A	G	rs1671150	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr19:55525497A>G	ENST00000417454.1	-	0	1839				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.F606L	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		tttgagacaaagtcaggcttc	0.478													G|||	3639	0.726637	0.5325	0.8242	5008	,	,		18456	0.8125		0.8459	False		,,,				2504	0.7086				p.F606L		.											.	GP6-92	0			c.T1816C						.	G	,LEU/PHE	2061,985		678,705,140	2.0	2.0	2.0		,1816	-0.5	0.0	19	dbSNP_89	2	5295,789		2317,661,64	no	utr-3,missense	GP6	NM_016363.4,NM_001083899.1	,22	2995,1366,204	GG,GA,AA		12.9684,32.3375,19.4304	,benign	,606/621	55525497	7356,1774	1523	3042	4565	SO:0001624	3_prime_UTR_variant	51206	exon8			AGACAAAGTCAGG	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*792T>C	19.37:g.55525497A>G		0	0		4	4	NM_001083899	0	0	0	0	0	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	1686	0.771978021978022	272	0.5528455284552846	309	0.8535911602209945	471	0.8234265734265734	634	0.8364116094986808	a	0	-2.609384	0.00121	0.676625	0.870316	ENSG00000088053	ENST00000310373	T	0.39592	1.07	0.235	-0.47	0.12131	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47799	-0.9089	6	0.02654	T	1	.	.	.	.	rs1671150;rs17451417;rs52793608;rs1671150	606	Q9HCN6-3	.	L	606	ENSP00000308782:F606L	ENSP00000308782:F606L	F	-	1	0	GP6	60217309	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.849000	0.01672	-1.921000	0.01068	-1.939000	0.00497	TTT	A|0.233;G|0.767		0.478	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		
FAM110C	642273	hgsc.bcm.edu	37	2	45895	45895	+	Missense_Mutation	SNP	A	A	G	rs4241318	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:45895A>G	ENST00000327669.4	-	1	490	c.491T>C	c.(490-492)aTc>aCc	p.I164T	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	164				I -> T (in Ref. 1; ABD92775). {ECO:0000305}.	positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GGTCTCGGGGATTGCGGGGTC	0.786													G|||	5004	0.999201	1.0	1.0	5008	,	,		7869	1.0		0.996	False		,,,				2504	1.0				p.I164T		.											.	FAM110C-68	0			c.T491C						.	G	THR/ILE	2781,1		1390,1,0	2.0	3.0	3.0		491	2.7	0.0	2	dbSNP_111	3	6567,21		3273,21,0	no	missense	FAM110C	NM_001077710.2	89	4663,22,0	GG,GA,AA		0.3188,0.0359,0.2348	benign	164/322	45895	9348,22	1391	3294	4685	SO:0001583	missense	642273	exon1			TCGGGGATTGCGG	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.491T>C	2.37:g.45895A>G	ENSP00000328347:p.Ile164Thr	0	0		6	6	NM_001077710	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	2159	0.9885531135531136	492	1.0	362	1.0	549	0.9597902097902098	756	0.9973614775725593	G	4.848	0.157575	0.09236	0.999641	0.996812	ENSG00000184731	ENST00000327669	T	0.30182	1.54	3.58	2.7	0.31948	.	41.233100	0.00166	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	9	0.09084	T	0.74	-11.2368	6.0655	0.19862	0.2481:0.0:0.7519:0.0	rs4241318	164	Q1W6H9	F110C_HUMAN	T	164	ENSP00000328347:I164T	ENSP00000328347:I164T	I	-	2	0	FAM110C	35895	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.401000	0.07232	0.330000	0.23485	-0.222000	0.12452	ATC	A|0.011;G|0.989		0.786	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710	
PXDN	7837	hgsc.bcm.edu	37	2	1748117	1748117	+	Silent	SNP	C	C	G	rs140134102	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:1748117C>G	ENST00000252804.4	-	1	161	c.111G>C	c.(109-111)ccG>ccC	p.P37P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	37	LRRNT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCAGCGGCTCGGACACCCTG	0.741													C|||	40	0.00798722	0.0008	0.0029	5008	,	,		5766	0.0		0.0169	False		,,,				2504	0.0204				p.P37P		.											.	PXDN-166	0			c.G111C						.	C		3,2193		0,3,1095	2.0	3.0	3.0		111	0.2	0.9	2	dbSNP_134	3	44,4352		0,44,2154	no	coding-synonymous	PXDN	NM_012293.1		0,47,3249	GG,GC,CC		1.0009,0.1366,0.713		37/1480	1748117	47,6545	1098	2198	3296	SO:0001819	synonymous_variant	7837	exon1			GCGGCTCGGACAC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.111G>C	2.37:g.1748117C>G		0	0		9	5	NM_012293	0	0	0	0	0	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	73	0.033424908424908424	38	0.07723577235772358	5	0.013812154696132596	8	0.013986013986013986	22	0.029023746701846966	C	7.645	0.681689	0.14907	0.001366	0.010009	ENSG00000130508	ENST00000433670	.	.	.	3.27	0.21	0.15231	.	.	.	.	.	T	0.05181	0.0138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02263	-1.1186	4	.	.	.	-15.6545	6.8475	0.23996	0.0:0.3866:0.3554:0.2579	.	.	.	.	P	33	.	.	R	-	2	0	PXDN	1727124	0.988000	0.35896	0.940000	0.37924	0.474000	0.32979	0.122000	0.15687	-0.317000	0.08677	-0.450000	0.05554	CGA	C|0.967;G|0.033		0.741	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
TRAPPC12	51112	hgsc.bcm.edu	37	2	3391826	3391826	+	Silent	SNP	C	C	T	rs11127423	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:3391826C>T	ENST00000324266.5	+	2	627	c.432C>T	c.(430-432)gcC>gcT	p.A144A	TRAPPC12_ENST00000382110.2_Silent_p.A144A	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	144					vesicle-mediated transport (GO:0016192)												GCAGCGAAGCCGCGCGCCCGG	0.781													C|||	1528	0.305112	0.2352	0.1628	5008	,	,		6707	0.4048		0.2435	False		,,,				2504	0.4611				p.A144A		.											.	.	0			c.C432T						.						2.0	2.0	2.0					2																	3391826		1308	2977	4285	SO:0001819	synonymous_variant	51112	exon2			CGAAGCCGCGCGC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.432C>T	2.37:g.3391826C>T		0	0		7	5	NM_016030	0	0	0	0	0	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1																																																																																			C|0.719;T|0.281		0.781	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
ARHGEF33	100271715	hgsc.bcm.edu	37	2	39187519	39187519	+	Silent	SNP	A	A	G	rs958412	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:39187519A>G	ENST00000536934.1	+	14	2158	c.2073A>G	c.(2071-2073)aaA>aaG	p.K691K	ARHGEF33_ENST00000409978.1_Silent_p.K691K|AC019171.1_ENST00000601251.1_5'Flank|ARHGEF33_ENST00000398800.4_Silent_p.K691K			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	691							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						GCGCCTACAAACTGGAGGCGG	0.746													G|||	4508	0.90016	0.9523	0.9481	5008	,	,		7469	0.8403		0.9354	False		,,,				2504	0.8211				p.K691K		.											.	ARHGEF33-46	0			c.A2073G						.						1.0	1.0	1.0					2																	39187519		286	830	1116	SO:0001819	synonymous_variant	100271715	exon14			CTACAAACTGGAG		CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.2073A>G	2.37:g.39187519A>G		0	0		7	7	NM_001145451	0	0	0	0	0	J3KPX2	Silent	SNP	ENST00000536934.1	37																																																																																				A|0.086;G|0.914		0.746	ARHGEF33-202	KNOWN	basic	protein_coding	protein_coding		NM_001145451	
PSD4	23550	hgsc.bcm.edu	37	2	113950832	113950871	+	Splice_Site	DEL	CAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	CAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	-	rs567086694		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	CAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	CAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:113950832_113950871delCAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	ENST00000245796.6	+	8	2114_2151	c.1919_1956delCAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT	c.(1918-1956)ccaggagcttcctccaggccttggtgctcagtggggaga>c	p.PGASSRPWCSVGR640fs	PSD4_ENST00000441564.3_Splice_Site_p.PGASSRPWCSVGR612fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	640	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTCCTTTGCAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACTCAGGAACGGG	0.621																																					p.640_652del		.											.	PSD4-229	0			c.1920_1956del						.																																			SO:0001630	splice_region_variant	23550	exon8			CCTTTGCAGGAGC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1920-1CAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT>-	2.37:g.113950832_113950871delCAGGAGCTTCCTCCAGGCCTTGGTGCTCAGTGGGGAGACT		77	0		69	0	NM_012455	0	0	0	0	0	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL	ENST00000245796.6	37	CCDS33276.1																																																																																			.		0.621	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	Frame_Shift_Del
ZRANB3	84083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	135988259	135988259	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:135988259G>C	ENST00000264159.6	-	13	1894	c.1778C>G	c.(1777-1779)aCa>aGa	p.T593R	ZRANB3_ENST00000536680.1_Missense_Mutation_p.T593R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.T593R	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	593					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTGGGATGGTGTCTCTTCCGA	0.507																																					p.T593R		.											.	ZRANB3-658	0			c.C1778G						.						170.0	167.0	168.0					2																	135988259		1987	4161	6148	SO:0001583	missense	84083	exon13			GATGGTGTCTCTT	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1778C>G	2.37:g.135988259G>C	ENSP00000264159:p.Thr593Arg	232	0		287	55	NM_032143	0	0	0	0	0	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	6.823	0.520912	0.13005	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90133	-2.62;-2.62;-2.61	4.98	-3.48	0.04739	.	0.988749	0.08258	N	0.973573	T	0.66733	0.2819	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.60016	-0.7345	10	0.14656	T	0.56	-4.1408	1.9159	0.03297	0.1045:0.2331:0.2495:0.4129	.	593;593	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	R	58;58;593;593;593	ENSP00000383979:T593R;ENSP00000264159:T593R;ENSP00000441320:T593R	ENSP00000264159:T593R	T	-	2	0	ZRANB3	135704729	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.635000	0.05471	-0.494000	0.06669	-0.217000	0.12591	ACA	.		0.507	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179446654	179446654	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:179446654C>A	ENST00000591111.1	-	265	61743	c.61519G>T	c.(61519-61521)Gct>Tct	p.A20507S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13208S|TTN_ENST00000460472.2_Missense_Mutation_p.A13083S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A13275S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A22148S|TTN_ENST00000342992.6_Missense_Mutation_p.A19580S|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20507	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAGCATAAGCGGCCTTGGAT	0.433																																					p.A22148S		.											.	TTN-636	0			c.G66442T						.						74.0	72.0	72.0					2																	179446654		1926	4131	6057	SO:0001583	missense	7273	exon315			CATAAGCGGCCTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61519G>T	2.37:g.179446654C>A	ENSP00000465570:p.Ala20507Ser	83	0		93	27	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.88	3.245893	0.59103	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;0.18;0.17;0.15	5.59	5.59	0.84812	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68339	0.2990	L	0.61218	1.895	0.43218	D	0.99509	B;B;B;B	0.32425	0.249;0.249;0.249;0.371	B;B;B;B	0.39738	0.099;0.099;0.176;0.308	T	0.70022	-0.4986	9	0.87932	D	0	.	19.5812	0.95468	0.0:1.0:0.0:0.0	.	13083;13208;13275;20507	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	19580;13083;13275;13208;13081	ENSP00000343764:A19580S;ENSP00000434586:A13083S;ENSP00000340554:A13275S;ENSP00000352154:A13208S	ENSP00000340554:A13275S	A	-	1	0	TTN	179154900	0.930000	0.31532	0.185000	0.23176	0.831000	0.47069	5.978000	0.70501	2.637000	0.89404	0.655000	0.94253	GCT	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ANKAR	150709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	190595328	190595328	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:190595328G>T	ENST00000520309.1	+	16	3388		c.e16+1		ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000313581.4_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAACATTAAGGTATAAAGGTT	0.274																																					.		.											.	ANKAR-72	0			c.3300+1G>T						.						79.0	74.0	75.0					2																	190595328		2202	4300	6502	SO:0001630	splice_region_variant	150709	exon16			ATTAAGGTATAAA	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3300+1G>T	2.37:g.190595328G>T		49	0		69	13	NM_144708	0	0	0	0	0	Q3ZCS6|Q4G0M2|Q6ZU02	Splice_Site	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636759	0.47049	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	.	.	.	4.12	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1543	0.59508	0.0:0.1621:0.8379:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKAR	190303573	1.000000	0.71417	0.908000	0.35775	0.885000	0.51271	4.076000	0.57591	1.049000	0.40321	0.491000	0.48974	.	.		0.274	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	Intron
ABCA12	26154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	215847044	215847044	+	Silent	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr2:215847044G>T	ENST00000272895.7	-	30	4665	c.4446C>A	c.(4444-4446)ggC>ggA	p.G1482G	ABCA12_ENST00000389661.4_Silent_p.G1164G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1482	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCTCTTCATGCCTCCTGACA	0.383																																					p.G1482G	Ovarian(66;664 1488 5121 34295)	.											.	ABCA12-99	0			c.C4446A						.						167.0	152.0	157.0					2																	215847044		2203	4300	6503	SO:0001819	synonymous_variant	26154	exon30			CTTCATGCCTCCT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4446C>A	2.37:g.215847044G>T		133	0		141	21	NM_173076	0	0	0	0	0	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																			.		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
XKR7	343702	broad.mit.edu	37	20	30556350	30556350	+	Silent	SNP	A	A	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr20:30556350A>C	ENST00000562532.2	+	1	546	c.372A>C	c.(370-372)ggA>ggC	p.G124G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	124						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGTCCCCGGGACCCGCCGTCA	0.682																																					p.G124G		.											.	XKR7-137	0			c.A372C						.						15.0	15.0	15.0					20																	30556350		2196	4297	6493	SO:0001819	synonymous_variant	343702	exon1			CCCGGGACCCGCC	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.372A>C	20.37:g.30556350A>C		48	10		69	7	NM_001011718	0	0	0	0	0	Q9NUG5	Silent	SNP	ENST00000562532.2	37	CCDS33459.1																																																																																			.		0.682	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
WISP2	8839	hgsc.bcm.edu	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5.0	5.0	5.0		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		3	0		18	8	NM_003881	0	0	0	0	0	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
SEMG1	6406	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	178	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423																																					p.V178I		.											.	SEMG1-92	0			c.G532A						.						81.0	76.0	78.0					20																	43836470		2203	4300	6503	SO:0001583	missense	6406	exon2			ACTTCCGTCTCTG		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.532G>A	20.37:g.43836470G>A	ENSP00000361867:p.Val178Ile	228	1		269	91	NM_003007	0	0	0	0	0	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146628	0.09134	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08102	3.13;3.13	1.02	-2.04	0.07343	.	.	.	.	.	T	0.10895	0.0266	L	0.57536	1.79	0.09310	N	1	P;B;D	0.53745	0.941;0.14;0.962	B;B;P	0.48770	0.304;0.062;0.589	T	0.19257	-1.0311	9	0.28530	T	0.3	.	6.5467	0.22410	0.0:0.3717:0.6283:0.0	.	178;178;178	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	I	178	ENSP00000244069:V178I;ENSP00000361867:V178I	ENSP00000244069:V178I	V	+	1	0	SEMG1	43269884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.602000	0.05680	-0.657000	0.05373	-0.357000	0.07601	GTC	.		0.423	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
TMEM189-UBE2V1	387522	hgsc.bcm.edu	37	20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	rs232733		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D|TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D|TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		6103	1.0		1.0	False		,,,				2504	1.0				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2.0	2.0	2.0					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	0	0		4	4	NM_199129	0	0	0	1	1		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr21:46911183delC	ENST00000359759.4	+	21	3378	c.3357delC	c.(3355-3357)ggcfs	p.G1119fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692																																					p.G884fs		.											.	COL18A1-90	0			c.2652delC						.						19.0	26.0	24.0					21																	46911183		1917	4091	6008	SO:0001589	frameshift_variant	80781	exon21			CCCTGGCCCCCCC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3357delC	21.37:g.46911183delC	ENSP00000352798:p.Gly1119fs	178	0		297	7	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37																																																																																				.		0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
LZTR1	8216	broad.mit.edu	37	22	21350330	21350330	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr22:21350330C>A	ENST00000215739.8	+	18	2507	c.2148C>A	c.(2146-2148)agC>agA	p.S716R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.S697R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	716	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGTGCCCAGCAGGCAGGCCT	0.602																																					p.S716R		.											.	LZTR1-280	0			c.C2148A						.						88.0	73.0	78.0					22																	21350330		2203	4300	6503	SO:0001583	missense	8216	exon18			GCCCAGCAGGCAG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2148C>A	22.37:g.21350330C>A	ENSP00000215739:p.Ser716Arg	83	2		53	4	NM_006767	0	0	0	0	0	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.95|19.95	3.921443|3.921443	0.73213|0.73213	.|.	.|.	ENSG00000099949|ENSG00000099949	ENST00000415817|ENST00000539817;ENST00000215739;ENST00000389355	.|T;T	.|0.72942	.|-0.7;-0.7	5.84|5.84	4.81|4.81	0.61882|0.61882	.|BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.|0.038130	.|0.85682	.|D	.|0.000000	D|D	0.83229|0.83229	0.5209|0.5209	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.994;1.0;0.997	.|D;D;D;D	.|0.91635	.|0.999;0.918;0.999;0.991	D|D	0.83773|0.83773	0.0221|0.0221	5|10	.|0.42905	.|T	.|0.14	-40.1272|-40.1272	14.0904|14.0904	0.64987|0.64987	0.1517:0.8483:0.0:0.0|0.1517:0.8483:0.0:0.0	.|.	.|697;428;716;675	.|B7Z3T9;B2R8T5;Q8N653;F5GXU8	.|.;.;LZTR1_HUMAN;.	K|R	16|675;716;697	.|ENSP00000215739:S716R;ENSP00000374006:S697R	.|ENSP00000215739:S716R	Q|S	+|+	1|3	0|2	LZTR1|LZTR1	19680330|19680330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	1.854000|1.854000	0.39368|0.39368	1.457000|1.457000	0.47850|0.47850	-0.314000|-0.314000	0.08810|0.08810	CAG|AGC	.		0.602	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
TPST2	8459	broad.mit.edu	37	22	26937357	26937357	+	Silent	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr22:26937357G>T	ENST00000338754.4	-	3	510	c.240C>A	c.(238-240)ggC>ggA	p.G80G	TPST2_ENST00000403880.1_Silent_p.G80G|TPST2_ENST00000398110.2_Silent_p.G80G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	80					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.G80G(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						TCAACGTGGTGCCACTGCGAG	0.677																																					p.G80G		.											.	TPST2-90	1	Substitution - coding silent(1)	lung(1)	c.C240A						.						54.0	40.0	44.0					22																	26937357		2203	4290	6493	SO:0001819	synonymous_variant	8459	exon3			CGTGGTGCCACTG	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.240C>A	22.37:g.26937357G>T		49	2		95	8	NM_001008566	0	0	8	9	1	B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	CCDS13839.1																																																																																			.		0.677	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595	
TRIOBP	11078	hgsc.bcm.edu	37	22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	rs739138	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4.0	6.0	5.0		3899	3.9	1.0	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	1	0		17	6	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
RRP7A	27341	bcgsc.ca	37	22	42912106	42912106	+	Missense_Mutation	SNP	C	C	T	rs1812240	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr22:42912106C>T	ENST00000323013.6	-	3	268	c.253G>A	c.(253-255)Gtc>Atc	p.V85I		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	85	RRM.		V -> I (in dbSNP:rs1812240). {ECO:0000269|PubMed:15489334}.				nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						ACAGACTGGACGAGGCCACAG	0.617													C|||	1257	0.250998	0.1346	0.0937	5008	,	,		18739	0.745		0.0557	False		,,,				2504	0.2117				p.V85I		.											.	RRP7A-91	0			c.G253A						.	C	ILE/VAL	561,3845	251.2+/-258.0	29,503,1671	51.0	47.0	48.0		253	-3.9	0.0	22	dbSNP_92	48	347,8253	117.4+/-177.0	13,321,3966	yes	missense	RRP7A	NM_015703.4	29	42,824,5637	TT,TC,CC		4.0349,12.7326,6.9814	benign	85/281	42912106	908,12098	2203	4300	6503	SO:0001583	missense	27341	exon3			ACTGGACGAGGCC	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.253G>A	22.37:g.42912106C>T	ENSP00000321449:p.Val85Ile	146	0		63	4	NM_015703	0	0	57	57	0	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	CCDS14036.1	568	0.2600732600732601	70	0.14227642276422764	28	0.07734806629834254	422	0.7377622377622378	48	0.0633245382585752	c	3.555	-0.090772	0.07053	0.127326	0.040349	ENSG00000189306	ENST00000323013	T	0.17528	2.27	3.93	-3.94	0.04130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.407810	0.26109	N	0.026291	T	0.00012	0.0000	L	0.53249	1.67	0.39030	P	0.040076	B	0.28850	0.225	B	0.16722	0.016	T	0.31888	-0.9927	9	0.26408	T	0.33	-18.3912	5.9128	0.19037	0.0:0.4701:0.126:0.4039	rs1812240;rs1812240	85	Q9Y3A4	RRP7A_HUMAN	I	85	ENSP00000321449:V85I	ENSP00000321449:V85I	V	-	1	0	RRP7A	41242050	0.078000	0.21339	0.000000	0.03702	0.000000	0.00434	0.300000	0.19156	-0.491000	0.06697	-1.212000	0.01626	GTC	C|0.860;N|0.001		0.617	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	
ARSA	410	bcgsc.ca	37	22	51064039	51064039	+	Missense_Mutation	SNP	G	G	C	rs743616	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr22:51064039G>C	ENST00000547307.1	-	7	1577	c.1172C>G	c.(1171-1173)aCt>aGt	p.T391S	ARSA_ENST00000395619.3_Missense_Mutation_p.T393S|ARSA_ENST00000547805.1_Missense_Mutation_p.T391S|ARSA_ENST00000453344.2_Missense_Mutation_p.T307S|ARSA_ENST00000356098.5_Missense_Mutation_p.T393S|ARSA_ENST00000216124.5_Missense_Mutation_p.T393S|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395621.3_Missense_Mutation_p.T393S			P15289	ARSA_HUMAN	arylsulfatase A	391			T -> S (in dbSNP:rs743616). {ECO:0000269|PubMed:10477432, ECO:0000269|PubMed:11061266, ECO:0000269|PubMed:11456299, ECO:0000269|PubMed:11941485, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15326627, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1670590, ECO:0000269|PubMed:9888390, ECO:0000269|Ref.6}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	GTACTTTCCAGTCCGCACAGC	0.652													C|||	2031	0.405551	0.3578	0.4697	5008	,	,		14864	0.3214		0.5288	False		,,,				2504	0.3845				p.T393S		.											.	ARSA-92	0			c.C1178G	GRCh37	CM910052	ARSA	M	rs743616	.	C	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	1736,2670	646.8+/-398.4	352,1032,819	69.0	82.0	78.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1178,1178,1178,1178,920	-0.0	0.9	22	dbSNP_86	78	4560,4040	555.3+/-386.7	1220,2120,960	yes	missense,missense,missense,missense,missense	ARSA	NM_000487.5,NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2	58,58,58,58,58	1572,3152,1779	CC,CG,GG		46.9767,39.4008,48.4084	benign,benign,benign,benign,benign	393/510,393/510,393/510,393/510,307/424	51064039	6296,6710	2203	4300	6503	SO:0001583	missense	410	exon8			TTTCCAGTCCGCA	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1172C>G	22.37:g.51064039G>C	ENSP00000448440:p.Thr391Ser	134	0		66	5	NM_001085426	0	0	36	36	0	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37		930	0.4258241758241758	181	0.3678861788617886	176	0.4861878453038674	185	0.32342657342657344	388	0.5118733509234829	C	8.274	0.813939	0.16537	0.394008	0.530233	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.59	-0.0288	0.13920	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.175200	0.06015	N	0.650226	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.21014	T	0.42	.	1.5892	0.02650	0.1364:0.3411:0.1333:0.3891	rs743616;rs1051552;rs3171785;rs17184315;rs17856452;rs60738949;rs743616	391	P15289	ARSA_HUMAN	S	393;393;391;391;393;307;393	ENSP00000348406:T393S;ENSP00000216124:T393S;ENSP00000448440:T391S;ENSP00000448932:T391S;ENSP00000378983:T393S;ENSP00000412542:T307S;ENSP00000378981:T393S	ENSP00000216124:T393S	T	-	2	0	ARSA	49410905	0.000000	0.05858	0.862000	0.33874	0.935000	0.57460	0.103000	0.15292	0.053000	0.16036	-0.934000	0.02701	ACT	G|0.545;C|0.455		0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
GOLGA4	2803	bcgsc.ca	37	3	37368758	37368758	+	Missense_Mutation	SNP	T	T	C	rs78214260	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:37368758T>C	ENST00000361924.2	+	14	5755	c.5381T>C	c.(5380-5382)aTa>aCa	p.I1794T	GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1816T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1794	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAAGTATGATAGGTCATCTT	0.383													T|||	142	0.0283546	0.0567	0.036	5008	,	,		20164	0.0		0.0358	False		,,,				2504	0.0061				p.I1816T		.											.	GOLGA4-93	0			c.T5447C						.	T	THR/ILE,THR/ILE	260,4144	144.2+/-179.2	8,244,1950	86.0	88.0	87.0		5447,5381	1.6	0.0	3	dbSNP_131	87	305,8293	109.4+/-169.9	2,301,3996	yes	missense,missense	GOLGA4	NM_001172713.1,NM_002078.4	89,89	10,545,5946	CC,CT,TT		3.5473,5.9037,4.3455	benign,benign	1816/2244,1794/2231	37368758	565,12437	2202	4299	6501	SO:0001583	missense	2803	exon15			GTATGATAGGTCA	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5381T>C	3.37:g.37368758T>C	ENSP00000354486:p.Ile1794Thr	97	0		115	5	NM_001172713	0	0	0	0	0	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	70	0.03205128205128205	25	0.0508130081300813	13	0.03591160220994475	0	0.0	32	0.04221635883905013	T	0.149	-1.093204	0.01858	0.059037	0.035473	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25250	1.82;1.81;1.81	4.07	1.56	0.23342	.	0.000000	0.37136	N	0.002224	T	0.01454	0.0047	L	0.35288	1.05	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.0	T	0.27434	-1.0074	10	0.13853	T	0.58	.	7.2051	0.25903	0.0:0.3014:0.0:0.6986	.	1794;1794;1816;1794	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	T	1794;1816;1665	ENSP00000354486:I1794T;ENSP00000349305:I1816T;ENSP00000405842:I1665T	ENSP00000349305:I1816T	I	+	2	0	GOLGA4	37343762	0.410000	0.25376	0.001000	0.08648	0.198000	0.23893	1.079000	0.30766	0.214000	0.20742	-0.432000	0.05891	ATA	T|0.962;C|0.038		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ZNF589	51385	bcgsc.ca	37	3	48309828	48309828	+	Missense_Mutation	SNP	C	C	G	rs11718329	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:48309828C>G	ENST00000354698.3	+	4	719	c.647C>G	c.(646-648)aCg>aGg	p.T216R	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	216			T -> R (in dbSNP:rs11718329). {ECO:0000269|PubMed:10029171, ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCAGTCACGTTTGGGGAG	0.473													G|||	1281	0.255791	0.3336	0.2219	5008	,	,		20430	0.124		0.2913	False		,,,				2504	0.274				p.T216R	Colon(9;319 328 25374 27611 50948)	.											.	ZNF589-91	0			c.C647G						.	G	ARG/THR	1304,2808		228,848,980	65.0	71.0	69.0		647	-2.7	0.0	3	dbSNP_120	69	2615,5801		422,1771,2015	yes	missense	ZNF589	NM_016089.2	71	650,2619,2995	GG,GC,CC		31.0718,31.7121,31.2819	probably-damaging	216/365	48309828	3919,8609	2056	4208	6264	SO:0001583	missense	51385	exon4			CAGTCACGTTTGG	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.647C>G	3.37:g.48309828C>G	ENSP00000346729:p.Thr216Arg	132	0		98	5	NM_016089	0	0	1	1	0	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	CCDS43085.1	508	0.2326007326007326	140	0.2845528455284553	88	0.2430939226519337	64	0.11188811188811189	216	0.2849604221635884	G	0.012	-1.656907	0.00779	0.317121	0.310718	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.06294	3.32	1.35	-2.69	0.06022	.	.	.	.	.	T	0.00012	0.0000	N	0.17764	0.52	0.53005	P	3.500000000000725E-5	B;B	0.30104	0.268;0.0	B;B	0.21360	0.034;0.0	T	0.45425	-0.9262	8	0.19590	T	0.45	.	0.105	0.00051	0.2658:0.1676:0.2423:0.3244	rs11718329;rs17845084;rs17857868;rs52834072;rs11718329	213;216	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	R	216;213	ENSP00000346729:T216R	ENSP00000296437:T213R	T	+	2	0	ZNF589	48284832	0.001000	0.12720	0.000000	0.03702	0.363000	0.29612	-0.710000	0.05024	-2.576000	0.00465	-1.508000	0.00951	ACG	C|0.735;G|0.265		0.473	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089	
RBM15B	29890	hgsc.bcm.edu	37	3	51429553	51429553	+	Silent	SNP	A	A	G	rs577320510	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:51429553A>G	ENST00000323686.4	+	1	823	c.723A>G	c.(721-723)ccA>ccG	p.P241P		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	241					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCTCCCCCAGGGCCGCCCG	0.746													A|||	3	0.000599042	0.0008	0.0	5008	,	,		10975	0.0		0.002	False		,,,				2504	0.0				p.P241P		.											.	RBM15B-90	0			c.A723G						.						2.0	2.0	2.0					3																	51429553		1078	2464	3542	SO:0001819	synonymous_variant	29890	exon1			TCCCCCAGGGCCG	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.723A>G	3.37:g.51429553A>G		0	0		12	5	NM_013286	0	0	0	0	0	A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	CCDS33764.1																																																																																			.		0.746	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	rs1403625	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3.0	4.0	4.0		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	0	0		7	7	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	rs1403626	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3.0	4.0	4.0		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	0	0		8	8	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
SEMA5B	54437	hgsc.bcm.edu	37	3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	rs2276782	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4.0	5.0	5.0		2519	5.0	1.0	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	0	0		11	11	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
GP9	2815	broad.mit.edu	37	3	128780901	128780901	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:128780901G>T	ENST00000307395.4	+	3	541	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	107	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CACGCCCGAGGCCCTGCTGCA	0.701																																					p.A107S		.											.	GP9-90	0			c.G319T						.						20.0	20.0	20.0					3																	128780901		2199	4296	6495	SO:0001583	missense	2815	exon3			CCCGAGGCCCTGC		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.319G>T	3.37:g.128780901G>T	ENSP00000303942:p.Ala107Ser	35	1		107	10	NM_000174	0	0	0	0	0	Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	6.262	0.416458	0.11870	.	.	ENSG00000169704	ENST00000307395	D	0.90069	-2.61	4.26	-0.227	0.13102	Cysteine-rich flanking region, C-terminal (1);	1.070780	0.07282	U	0.870998	T	0.72309	0.3444	N	0.05414	-0.055	0.09310	N	1	B	0.19445	0.036	B	0.18263	0.021	T	0.58211	-0.7676	10	0.17369	T	0.5	-0.9252	1.9494	0.03364	0.2082:0.1579:0.4733:0.1606	.	107	P14770	GPIX_HUMAN	S	107	ENSP00000303942:A107S	ENSP00000303942:A107S	A	+	1	0	GP9	130263591	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	0.045000	0.14013	0.051000	0.15978	0.462000	0.41574	GCC	.		0.701	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1		
EPHB1	2047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	134967302	134967302	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:134967302A>G	ENST00000398015.3	+	14	3011	c.2641A>G	c.(2641-2643)Atg>Gtg	p.M881V	EPHB1_ENST00000493838.1_Missense_Mutation_p.M442V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			M -> I (in Ref. 4; BAF83897). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTAGATAAGATGATCCGGAA	0.552																																					p.M881V		.											.	EPHB1-1492	0			c.A2641G						.						27.0	32.0	31.0					3																	134967302		2184	4297	6481	SO:0001583	missense	2047	exon14			GATAAGATGATCC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2641A>G	3.37:g.134967302A>G	ENSP00000381097:p.Met881Val	238	0		208	48	NM_004441	0	0	0	0	0	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948631	0.53186	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.61392	0.11;0.11	5.65	4.44	0.53790	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.35644	1.08	0.58432	D	0.999991	B	0.24882	0.113	B	0.26693	0.072	T	0.53344	-0.8452	10	0.87932	D	0	.	13.1094	0.59265	0.867:0.1329:0.0:0.0	.	881	P54762	EPHB1_HUMAN	V	881;442	ENSP00000381097:M881V;ENSP00000419574:M442V	ENSP00000381097:M881V	M	+	1	0	EPHB1	136449992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.612000	0.67681	2.371000	0.80710	0.533000	0.62120	ATG	.		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
GMPS	8833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	155611467	155611467	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:155611467C>T	ENST00000496455.2	+	2	523	c.188C>T	c.(187-189)gCt>gTt	p.A63V	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	63	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CCAGCATTTGCTATAAAGGAA	0.393			T	MLL	AML																																p.A63V	Ovarian(153;896 1876 4149 15499 28134)	.		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	GMPS-229	0			c.C188T						.						60.0	57.0	58.0					3																	155611467		1856	4100	5956	SO:0001583	missense	8833	exon2			CATTTGCTATAAA	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.188C>T	3.37:g.155611467C>T	ENSP00000419851:p.Ala63Val	85	0		79	24	NM_003875	0	0	1	3	2	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456359	0.43634	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.89681	-2.55	5.41	5.41	0.78517	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.078551	0.56097	D	0.000030	T	0.80984	0.4729	N	0.11106	0.095	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.74774	-0.3551	10	0.40728	T	0.16	-12.469	19.1951	0.93684	0.0:1.0:0.0:0.0	.	63	P49915	GUAA_HUMAN	V	63	ENSP00000419851:A63V	ENSP00000419851:A63V	A	+	2	0	GMPS	157094161	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.082000	0.50128	2.520000	0.84964	0.551000	0.68910	GCT	.		0.393	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
TNIK	23043	bcgsc.ca	37	3	170811726	170811726	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:170811726A>G	ENST00000436636.2	-	23	2967	c.2623T>C	c.(2623-2625)Tac>Cac	p.Y875H	TNIK_ENST00000357327.5_Missense_Mutation_p.Y846H|TNIK_ENST00000341852.6_Missense_Mutation_p.Y791H|TNIK_ENST00000475336.1_Missense_Mutation_p.Y783H|TNIK_ENST00000488470.1_Missense_Mutation_p.Y820H|TNIK_ENST00000284483.8_Missense_Mutation_p.Y867H|TNIK_ENST00000538048.1_Missense_Mutation_p.Y827H|TNIK_ENST00000369326.5_Missense_Mutation_p.Y853H|TNIK_ENST00000470834.1_Missense_Mutation_p.Y838H|TNIK_ENST00000460047.1_Missense_Mutation_p.Y812H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	875	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCCACATTGTACTGCTCGTTG	0.473																																					p.Y875H		.											.	TNIK-550	0			c.T2623C						.						100.0	102.0	102.0					3																	170811726		2090	4238	6328	SO:0001583	missense	23043	exon23			CATTGTACTGCTC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2623T>C	3.37:g.170811726A>G	ENSP00000399511:p.Tyr875His	128	0		93	4	NM_015028	0	0	0	0	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791554	0.31685	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.39	5.39	0.77823	.	0.550760	0.19362	N	0.116110	T	0.72598	0.3480	N	0.14661	0.345	0.43385	D	0.99549	D;B;D;D;D;B;D;D	0.60160	0.965;0.002;0.965;0.965;0.987;0.002;0.965;0.978	P;B;P;P;P;B;P;P	0.60789	0.461;0.005;0.461;0.461;0.879;0.005;0.461;0.76	T	0.70799	-0.4774	10	0.24483	T	0.36	.	15.4036	0.74861	1.0:0.0:0.0:0.0	.	783;838;812;791;867;846;820;875	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	875;853;827;791;867;783;846;812;820;838	ENSP00000399511:Y875H;ENSP00000358332:Y853H;ENSP00000443278:Y827H;ENSP00000345352:Y791H;ENSP00000284483:Y867H;ENSP00000418156:Y783H;ENSP00000349880:Y846H;ENSP00000418916:Y812H;ENSP00000418378:Y820H;ENSP00000419990:Y838H	ENSP00000284483:Y867H	Y	-	1	0	TNIK	172294420	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.738000	0.68613	2.023000	0.59567	0.533000	0.62120	TAC	.		0.473	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
MUC20	200958	bcgsc.ca	37	3	195452805	195452805	+	Missense_Mutation	SNP	T	T	C	rs138659995	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr3:195452805T>C	ENST00000447234.2	+	2	1457	c.1331T>C	c.(1330-1332)cTc>cCc	p.L444P	MUC20_ENST00000445522.2_Missense_Mutation_p.L409P|MUC20_ENST00000436408.1_Missense_Mutation_p.L444P|MUC20_ENST00000320736.6_Missense_Mutation_p.L273P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	444				L -> P (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GACACAGATCTCATCCCCACG	0.532																																					p.L273P		.											.	.	0			c.T818C						.						33.0	29.0	31.0					3																	195452805		2032	4172	6204	SO:0001583	missense	200958	exon3			CAGATCTCATCCC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1331T>C	3.37:g.195452805T>C	ENSP00000414350:p.Leu444Pro	556	5		465	14	NM_152673	0	0	1	1	0	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		304	0.1391941391941392	136	0.2764227642276423	44	0.12154696132596685	1	0.0017482517482517483	123	0.16226912928759896	A	5.982	0.365171	0.11296	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.15487	2.84;2.85;3.01;2.42	4.27	-8.54	0.00912	.	1.966210	0.02326	N	0.073463	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.24512	-1.0158	9	0.35671	T	0.21	11.8641	1.0464	0.01570	0.1498:0.2084:0.2288:0.413	.	273	E9PH32	.	P	444;273;444;409	ENSP00000414350:L444P;ENSP00000325431:L273P;ENSP00000396774:L444P;ENSP00000405629:L409P	ENSP00000325431:L273P	L	+	2	0	MUC20	196938476	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.973000	0.03798	-3.119000	0.00239	-0.454000	0.05498	CTC	T|0.856;C|0.144		0.532	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
DOK7	285489	hgsc.bcm.edu	37	4	3495095	3495095	+	Missense_Mutation	SNP	G	G	A	rs9684786	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr4:3495095G>A	ENST00000340083.5	+	7	1447	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.G461D	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	461			G -> D (in dbSNP:rs9684786). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCCCCAGGGCAGCGAGGCC	0.736													.|||	979	0.195487	0.1301	0.2536	5008	,	,		12640	0.126		0.1859	False		,,,				2504	0.3241				p.G461D		.											.	DOK7-91	0			c.G1382A						.	G	,ASP/GLY	491,3733		21,449,1642	5.0	7.0	6.0		,1382	2.6	0.0	4	dbSNP_119	6	1533,6777		146,1241,2768	no	utr-3,missense	DOK7	NM_001164673.1,NM_173660.4	,94	167,1690,4410	AA,AG,GG		18.4477,11.6241,16.1481	,possibly-damaging	,461/505	3495095	2024,10510	2112	4155	6267	SO:0001583	missense	285489	exon7			CCCAGGGCAGCGA	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1382G>A	4.37:g.3495095G>A	ENSP00000344432:p.Gly461Asp	2	0		41	30	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	361	0.1652930402930403	71	0.1443089430894309	89	0.24585635359116023	60	0.1048951048951049	141	0.18601583113456466	G	11.67	1.708532	0.30322	0.116241	0.184477	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.65364	-0.15;-0.05	3.45	2.59	0.31030	.	0.256266	0.35096	N	0.003451	T	0.00039	0.0001	L	0.60455	1.87	0.80722	P	0.0	B;P;B	0.40731	0.192;0.728;0.005	B;P;B	0.44359	0.066;0.447;0.001	T	0.03706	-1.1011	9	0.51188	T	0.08	-7.7911	11.2519	0.49031	0.0:0.0:0.8164:0.1835	rs9684786;rs17846359;rs17859395	461;323;461	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	D	461	ENSP00000374304:G461D;ENSP00000344432:G461D	ENSP00000344432:G461D	G	+	2	0	DOK7	3464893	1.000000	0.71417	0.010000	0.14722	0.077000	0.17291	2.742000	0.47434	0.667000	0.31107	0.555000	0.69702	GGC	G|0.834;A|0.166		0.736	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
ADRA2C	152	broad.mit.edu	37	4	3769013	3769013	+	Missense_Mutation	SNP	G	G	T	rs530828101		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr4:3769013G>T	ENST00000330055.5	+	1	889	c.680G>T	c.(679-681)gGc>gTc	p.G227V	ADRA2C_ENST00000509482.1_Missense_Mutation_p.G227V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	227					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCATCATGGGCCTGGTCTAC	0.701																																					p.G227V	Esophageal Squamous(12;454 628 4517 14479)	.											.	ADRA2C-522	0			c.G680T						.																																			SO:0001583	missense	152	exon1			TCATGGGCCTGGT	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.680G>T	4.37:g.3769013G>T	ENSP00000386069:p.Gly227Val	62	1		99	6	NM_000683	0	1	27	28	0	P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724021	0.30593	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.70164	-0.46;-0.46	3.93	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30448	0.0765	N	0.00424	-1.51	0.52501	D	0.999957	B;B	0.16603	0.018;0.009	B;B	0.18871	0.023;0.007	T	0.07271	-1.0781	9	0.30078	T	0.28	.	10.6241	0.45497	0.0:0.0:0.501:0.499	.	227;227	D6RGL0;P18825	.;ADA2C_HUMAN	V	227	ENSP00000426268:G227V;ENSP00000386069:G227V	ENSP00000386069:G227V	G	+	2	0	ADRA2C	3738811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.602000	0.54066	0.588000	0.29660	0.511000	0.50034	GGC	.		0.701	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
FAM184B	27146	hgsc.bcm.edu	37	4	17643848	17643848	+	Missense_Mutation	SNP	G	G	A	rs2286771	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr4:17643848G>A	ENST00000265018.3	-	13	2562	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	784				R -> W (in Ref. 1; BAA86590). {ECO:0000305}.						NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GGGCCGCCCCGCTCCTGAGGA	0.701													G|||	2697	0.538538	0.1725	0.6599	5008	,	,		10215	0.8522		0.6233	False		,,,				2504	0.5368				p.R784W		.											.	FAM184B-23	0			c.C2350T						.						1.0	2.0	2.0					4																	17643848		374	1044	1418	SO:0001583	missense	27146	exon13			CGCCCCGCTCCTG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2350C>T	4.37:g.17643848G>A	ENSP00000265018:p.Arg784Trp	0	0		9	9	NM_015688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	1272	0.5824175824175825	75	0.1524390243902439	232	0.6408839779005525	493	0.8618881118881119	472	0.6226912928759895	G	13.83	2.354233	0.41700	.	.	ENSG00000047662	ENST00000265018	T	0.34072	1.38	3.29	-3.67	0.04476	.	3.541600	0.00901	N	0.002342	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.56968	0.978	B	0.40741	0.339	T	0.48547	-0.9026	9	0.72032	D	0.01	2.0681	6.7491	0.23477	0.107:0.2547:0.5506:0.0877	rs2286771;rs58699512;rs2286771	784	Q9ULE4	F184B_HUMAN	W	784	ENSP00000265018:R784W	ENSP00000265018:R784W	R	-	1	2	FAM184B	17252946	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-0.323000	0.07997	-1.014000	0.03379	-0.369000	0.07265	CGG	G|0.440;A|0.560		0.701	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
DTHD1	401124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	36296567	36296567	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr4:36296567C>G	ENST00000456874.2	+	4	1232	c.1174C>G	c.(1174-1176)Cca>Gca	p.P392A	DTHD1_ENST00000357504.3_Missense_Mutation_p.P227A|DTHD1_ENST00000507598.1_Missense_Mutation_p.P432A	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	392					signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						ACCTTGTTCTCCATACCTTGA	0.393																																					p.P392A		.											.	DTHD1-46	0			c.C1174G						.						194.0	163.0	173.0					4																	36296567		692	1591	2283	SO:0001583	missense	401124	exon4			TGTTCTCCATACC	AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.1174C>G	4.37:g.36296567C>G	ENSP00000401597:p.Pro392Ala	117	0		125	36	NM_001170700	0	0	0	0	0	B2RXK4|B4E2N7	Missense_Mutation	SNP	ENST00000456874.2	37	CCDS54754.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071495	0.20147	.	.	ENSG00000197057	ENST00000357504;ENST00000507598;ENST00000456874	T;T;T	0.29142	1.58;1.92;1.92	5.4	1.74	0.24563	.	0.166713	0.53938	N	0.000048	T	0.25082	0.0609	M	0.66939	2.045	0.39903	D	0.973925	P	0.36683	0.565	B	0.33254	0.16	T	0.03933	-1.0991	10	0.38643	T	0.18	-0.8105	5.0046	0.14282	0.1228:0.6303:0.1184:0.1285	.	227	Q6ZMT9-2	.	A	227;432;392	ENSP00000350103:P227A;ENSP00000424426:P432A;ENSP00000401597:P392A	ENSP00000350103:P227A	P	+	1	0	DTHD1	35972962	1.000000	0.71417	0.996000	0.52242	0.216000	0.24613	1.325000	0.33724	0.110000	0.17919	0.655000	0.94253	CCA	.		0.393	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001136536	
BANK1	55024	broad.mit.edu	37	4	102751014	102751014	+	Missense_Mutation	SNP	G	G	C	rs35978636	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr4:102751014G>C	ENST00000322953.4	+	2	394	c.120G>C	c.(118-120)tgG>tgC	p.W40C	BANK1_ENST00000444316.2_Missense_Mutation_p.W10C|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.W25C|BANK1_ENST00000508653.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	40	Interaction with ITPR2.				B cell activation (GO:0042113)			p.W40F(1)|p.W40C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTGAGGAATGGGCTCTGTACT	0.338													G|||	20	0.00399361	0.0015	0.0086	5008	,	,		16023	0.0		0.0089	False		,,,				2504	0.0031				p.W40C		.											.	BANK1-93	2	Substitution - Missense(2)	lung(2)	c.G120C						.	G	CYS/TRP,,CYS/TRP	11,4391	14.3+/-33.2	0,11,2190	54.0	56.0	55.0		30,,120	5.2	1.0	4	dbSNP_126	55	154,8446	69.0+/-131.5	1,152,4147	yes	missense,intron,missense	BANK1	NM_001083907.2,NM_001127507.2,NM_017935.4	215,,215	1,163,6337	CC,CG,GG		1.7907,0.2499,1.269	probably-damaging,,probably-damaging	10/756,,40/786	102751014	165,12837	2201	4300	6501	SO:0001583	missense	55024	exon2			GGAATGGGCTCTG	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.120G>C	4.37:g.102751014G>C	ENSP00000320509:p.Trp40Cys	73	2		65	5	NM_017935	0	0	0	0	0	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	12	0.005494505494505495	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	7	0.009234828496042216	G	17.98	3.521833	0.64747	0.002499	0.017907	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.30182	1.54;1.54;1.54	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000006	T	0.38453	0.1041	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.50931	-0.8769	10	0.72032	D	0.01	.	17.7088	0.88316	0.0:0.0:1.0:0.0	rs35978636	40;25	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	C	25;40;10	ENSP00000421443:W25C;ENSP00000320509:W40C;ENSP00000388817:W10C	ENSP00000320509:W40C	W	+	3	0	BANK1	102970037	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.782000	0.75073	2.407000	0.81776	0.650000	0.86243	TGG	G|0.989;C|0.011		0.338	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
NSUN2	54888	hgsc.bcm.edu	37	5	6633042	6633042	+	Silent	SNP	C	C	T	rs10062086	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank|NSUN2_ENST00000506139.1_Silent_p.E17E|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2.0	3.0	2.0					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.51G>A	5.37:g.6633042C>T		0	0		8	8	NM_017755	0	0	0	1	1	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
SRD5A1	6715	hgsc.bcm.edu	37	5	6633779	6633779	+	Silent	SNP	C	C	G	rs248793	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000264670.6_5'Flank|NSUN2_ENST00000506139.1_5'Flank|NSUN2_ENST00000539938.1_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5.0	6.0	5.0		90	0.8	0.0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		0	0		4	4	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
CTNND2	1501	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	10992734	10992734	+	Missense_Mutation	SNP	C	C	T	rs367931998		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:10992734C>T	ENST00000304623.8	-	19	3329	c.3140G>A	c.(3139-3141)cGg>cAg	p.R1047Q	CTNND2_ENST00000359640.2_Missense_Mutation_p.R989Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R710Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.R614Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.R956Q|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1047					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGCCTTTGCCGGTCCCTCTC	0.587																																					p.R1047Q		.											.	CTNND2-293	0			c.G3140A						.						134.0	120.0	125.0					5																	10992734		2203	4300	6503	SO:0001583	missense	1501	exon19			CTTTGCCGGTCCC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3140G>A	5.37:g.10992734C>T	ENSP00000307134:p.Arg1047Gln	85	1		92	21	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691098	0.88735	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79554	-1.22;-1.28;-1.22;-1.25;-1.25	5.18	4.3	0.51218	.	0.063175	0.64402	D	0.000009	D	0.84497	0.5485	L	0.39245	1.2	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.993	D;D;P	0.70227	0.968;0.968;0.543	D	0.83914	0.0297	10	0.40728	T	0.16	-11.8165	14.9681	0.71210	0.1441:0.8559:0.0:0.0	.	710;639;1047	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	1047;989;956;142;614;710	ENSP00000307134:R1047Q;ENSP00000352661:R989Q;ENSP00000426510:R956Q;ENSP00000391155:R614Q;ENSP00000426887:R710Q	ENSP00000307134:R1047Q	R	-	2	0	CTNND2	11045734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	1.159000	0.42565	0.650000	0.86243	CGG	.		0.587	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
IPO11	51194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	61779887	61779887	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:61779887A>C	ENST00000325324.6	+	11	1241	c.1072A>C	c.(1072-1074)Aca>Cca	p.T358P	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.T398P	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	358					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGCATTCTTCACATATCCTAC	0.358																																					p.T398P		.											.	IPO11-227	0			c.A1192C						.						77.0	79.0	79.0					5																	61779887		2203	4294	6497	SO:0001583	missense	51194	exon11			TTCTTCACATATC	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1072A>C	5.37:g.61779887A>C	ENSP00000316651:p.Thr358Pro	224	0		266	60	NM_001134779	0	0	0	0	0	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569904	0.86542	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.69040	-0.37;-0.37	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.046544	0.85682	D	0.000000	T	0.79656	0.4483	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.972	T	0.79252	-0.1880	10	0.39692	T	0.17	.	15.3964	0.74798	1.0:0.0:0.0:0.0	.	398;358	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	P	358;398	ENSP00000316651:T358P;ENSP00000386992:T398P	ENSP00000316651:T358P	T	+	1	0	IPO11	61815644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.206000	0.95056	2.034000	0.60081	0.460000	0.39030	ACA	.		0.358	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
PCDHA7	56141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140215891	140215891	+	Silent	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:140215891C>T	ENST00000525929.1	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGACGGACGCACCGCGCC	0.662																																					p.D641D	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.C1923T						.						77.0	80.0	79.0					5																	140215891		2203	4299	6502	SO:0001819	synonymous_variant	56141	exon1			GACGGACGCACCG	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1923C>T	5.37:g.140215891C>T		186	0		224	46	NM_031852	0	0	5	9	4	O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																			.		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0				p.A526A		.											.	PCDHB7-95	1	Substitution - coding silent(1)	lung(1)	c.G1578T						.						62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T		143	0		290	15	NM_018940	0	0	11	14	3	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:5086070A>G	ENST00000405617.2	+	1	351	c.351A>G	c.(349-351)gcA>gcG	p.A117A		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	117					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						CGGAGGACGCACAGCTCGGCC	0.692													G|||	5008	1.0	1.0	1.0	5008	,	,		12505	1.0		1.0	False		,,,				2504	1.0				p.A117A		.											.	PPP1R3G-136	0			c.A351G						.						1.0	2.0	2.0					6																	5086070		400	1062	1462	SO:0001819	synonymous_variant	648791	exon1			GGACGCACAGCTC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.351A>G	6.37:g.5086070A>G		0	0		19	19	NM_001145115	0	0	0	12	12		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			A|0.006;G|0.994		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
RREB1	6239	hgsc.bcm.edu	37	6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	rs9502564	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000379938.2_Missense_Mutation_p.G783V|RREB1_ENST00000379933.3_Missense_Mutation_p.G783V|RREB1_ENST00000334984.6_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9.0	9.0	9.0		2348,2348,2348,2348	5.3	1.0	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	2	0		19	11	NM_001003700	0	0	0	0	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
DAXX	1616	hgsc.bcm.edu;bcgsc.ca	37	6	33288834	33288835	+	Frame_Shift_Del	DEL	AT	AT	-	rs549668094		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:33288834_33288835delAT	ENST00000374542.5	-	3	921_922	c.717_718delAT	c.(715-720)ctatgtfs	p.C240fs	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Frame_Shift_Del_p.C240fs|DAXX_ENST00000414083.2_Frame_Shift_Del_p.C165fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	240	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCAGCTCACATAGTCGCCCAA	0.564			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.251_252del		.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	.	DAXX-731	0			c.753_754del						.																																			SO:0001589	frameshift_variant	1616	exon3			GCTCACATAGTCG	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.717_718delAT	6.37:g.33288834_33288835delAT	ENSP00000363668:p.Cys240fs	91	1		82	24	NM_001141970	0	0	0	0	0	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	CCDS4776.1																																																																																			.		0.564	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
KCNK17	89822	hgsc.bcm.edu	37	6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	rs10947804	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3.0	4.0	3.0		61,61	2.1	0.0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	0	0		14	14	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		0	0		18	8	NM_000287	0	0	1	4	3	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
PAQR8	85315	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	52268605	52268605	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:52268605A>C	ENST00000442253.2	+	2	768	c.594A>C	c.(592-594)aaA>aaC	p.K198N	PAQR8_ENST00000360726.3_Missense_Mutation_p.K198N	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	198					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GCTATGCCAAATATCGTTACC	0.532																																					p.K198N		.											.	PAQR8-68	0			c.A594C						.						114.0	101.0	105.0					6																	52268605		2203	4300	6503	SO:0001583	missense	85315	exon2			TGCCAAATATCGT	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.594A>C	6.37:g.52268605A>C	ENSP00000406197:p.Lys198Asn	161	1		170	37	NM_133367	0	0	0	0	0	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903556	0.52333	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32023	1.47;1.47	5.51	3.72	0.42706	.	0.120604	0.52532	D	0.000062	T	0.40815	0.1132	M	0.86028	2.79	0.58432	D	0.999993	D	0.56746	0.977	D	0.63877	0.919	T	0.41215	-0.9521	9	.	.	.	-17.3696	6.9923	0.24761	0.3639:0.0:0.6361:0.0	.	198	Q8TEZ7	MPRB_HUMAN	N	198	ENSP00000406197:K198N;ENSP00000353953:K198N	.	K	+	3	2	PAQR8	52376564	0.998000	0.40836	0.999000	0.59377	0.921000	0.55340	0.505000	0.22642	0.674000	0.31244	-0.468000	0.05107	AAA	.		0.532	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367	
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:66053948G>A	ENST00000370621.3	-	10	2108	c.1582C>T	c.(1582-1584)Cat>Tat	p.H528Y	EYS_ENST00000370618.3_Missense_Mutation_p.H528Y|EYS_ENST00000342421.5_Missense_Mutation_p.H528Y|EYS_ENST00000503581.1_Missense_Mutation_p.H528Y|EYS_ENST00000370616.2_Missense_Mutation_p.H528Y|EYS_ENST00000393380.2_Missense_Mutation_p.H528Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H528N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCCTTCATGTGGGAACCAA	0.353																																					p.H528Y		.											.	EYS-660	4	Substitution - Missense(4)	lung(4)	c.C1582T						.						97.0	97.0	97.0					6																	66053948		2203	4300	6503	SO:0001583	missense	346007	exon10			CTTCATGTGGGAA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1582C>T	6.37:g.66053948G>A	ENSP00000359655:p.His528Tyr	95	0		119	25	NM_001142801	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	g	0.006	-2.019422	0.00418	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.1	-1.78	0.07957	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32929	-0.9888	9	0.02654	T	1	.	4.2763	0.10811	0.4633:0.1799:0.3568:0.0	.	528;528;528	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Y	528	ENSP00000424243:H528Y;ENSP00000359655:H528Y;ENSP00000359650:H528Y;ENSP00000377042:H528Y;ENSP00000341818:H528Y;ENSP00000359652:H528Y	ENSP00000341818:H528Y	H	-	1	0	EYS	66110669	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.764000	0.26532	-0.280000	0.09154	-0.324000	0.08512	CAT	.		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
POU3F2	5454	hgsc.bcm.edu	37	6	99283376	99283376	+	Silent	SNP	T	T	G	rs195860	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4.0	4.0	4.0		627	3.1	1.0	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		0	0		13	12	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																					p.72_72del		.											.	TBP-91	3	Deletion - In frame(3)	ovary(1)|prostate(1)|breast(1)	c.214_216del						.																																			SO:0001651	inframe_deletion	6908	exon3			CAGCAGCAACAGC	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del	64	0		73	9	NM_003194	0	0	0	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
USP42	84132	hgsc.bcm.edu	37	7	6193521	6193521	+	Missense_Mutation	SNP	G	G	C	rs61729726	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:6193521G>C	ENST00000306177.5	+	15	2494	c.2336G>C	c.(2335-2337)cGc>cCc	p.R779P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	779	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCGCCGCCCCGCGATCCCGGC	0.756													C|||	2895	0.578075	0.8638	0.4121	5008	,	,		10724	0.7331		0.3082	False		,,,				2504	0.4274				p.R779P		.											.	USP42-659	0			c.G2336C						.	C	PRO/ARG	2157,1125		751,655,235	4.0	6.0	5.0		2336	2.6	0.0	7	dbSNP_129	5	1843,5693		290,1263,2215	no	missense	USP42	NM_032172.2	103	1041,1918,2450	CC,CG,GG		24.4559,34.2779,36.9754	benign	779/1317	6193521	4000,6818	1641	3768	5409	SO:0001583	missense	84132	exon15			CGCCCCGCGATCC	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2336G>C	7.37:g.6193521G>C	ENSP00000301962:p.Arg779Pro	0	0		16	11	NM_032172	0	0	0	1	1	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	1188	0.5439560439560439	401	0.8150406504065041	130	0.35911602209944754	440	0.7692307692307693	217	0.2862796833773087	C	10.95	1.494372	0.26774	0.657221	0.244559	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.14266	2.52;2.93	5.46	2.59	0.31030	.	0.841331	0.10600	N	0.655737	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09164	-1.0687	9	0.28530	T	0.3	.	2.8136	0.05448	0.1458:0.5508:0.1414:0.162	rs61729726	779;779	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	P	779;625	ENSP00000301962:R779P;ENSP00000408217:R625P	ENSP00000301962:R779P	R	+	2	0	USP42	6160046	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.469000	0.22067	0.265000	0.21872	-0.120000	0.15030	CGC	G|0.456;C|0.544		0.756	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
JAZF1	221895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	27880467	27880467	+	Silent	SNP	C	C	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:27880467C>T	ENST00000283928.5	-	4	570	c.405G>A	c.(403-405)gaG>gaA	p.E135E	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	135					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						AGTCCACCTCCTCCTCGTCAT	0.587			T	SUZ12	endometrial stromal tumours																																p.E135E		.		Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	.	JAZF1-808	0			c.G405A						.						161.0	121.0	135.0					7																	27880467		2203	4300	6503	SO:0001819	synonymous_variant	221895	exon4			CACCTCCTCCTCG	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.405G>A	7.37:g.27880467C>T		111	0		110	24	NM_175061	0	0	13	15	2	A4D195|Q8N3L7	Silent	SNP	ENST00000283928.5	37	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606763	0.46527	.	.	ENSG00000153814	ENST00000427814	.	.	.	5.95	4.14	0.48551	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54443	-0.8293	4	.	.	.	-21.9144	8.5391	0.33382	0.0:0.7119:0.0:0.2881	.	.	.	.	K	122	.	.	R	-	2	0	JAZF1	27846992	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	1.741000	0.38238	0.839000	0.34971	0.563000	0.77884	AGG	.		0.587	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584199.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		12	7	NM_002047	0	0	3	4	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
NPTX2	4885	broad.mit.edu;bcgsc.ca	37	7	98254231	98254249	+	Splice_Site	DEL	CAGGCAATAGCGCCTTTAA	CAGGCAATAGCGCCTTTAA	-	rs146252301|rs61744552	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:98254231_98254249delCAGGCAATAGCGCCTTTAA	ENST00000265634.3	+	3	808_824	c.643_659delCAGGCAATAGCGCCTTTAA	c.(643-660)caggcaatagcgccttta>a	p.QAIAPL215fs		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	215					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAACCCCCAGGCAATAGCGCCTTTAAGTCACCAGAT	0.584																																					p.215_220del		.											.	NPTX2-515	0			c.644_659del						.																																			SO:0001630	splice_region_variant	4885	exon3			AACCCCCAGGCAA		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.644-1CAGGCAATAGCGCCTTTAA>-	7.37:g.98254231_98254249delCAGGCAATAGCGCCTTTAA		100	0		37	7	NM_002523	0	0	0	0	0	A4D267|Q86XV7|Q96G70	Frame_Shift_Del	DEL	ENST00000265634.3	37	CCDS5657.1																																																																																			.		0.584	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	Frame_Shift_Del
UFSP1	402682	bcgsc.ca	37	7	100486576	100486576	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:100486576G>T	ENST00000388761.2	-	1	763	c.317C>A	c.(316-318)gCt>gAt	p.A106D		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	106						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCACCCAGCAGCCTGTAGTTC	0.592																																					p.A106D		.											.	UFSP1-22	0			c.C317A						.						97.0	98.0	98.0					7																	100486576		2203	4300	6503	SO:0001583	missense	402682	exon1			CCAGCAGCCTGTA	AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.317C>A	7.37:g.100486576G>T	ENSP00000373413:p.Ala106Asp	126	3		53	10	NM_001015072	0	0	6	6	0	A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Missense_Mutation	SNP	ENST00000388761.2	37	CCDS34710.1	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458235	0.12342	.	.	ENSG00000176125	ENST00000388761	T	0.28454	1.61	5.19	-2.95	0.05564	.	1.095140	0.07033	N	0.828743	T	0.12347	0.0300	N	0.11313	0.125	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30504	-0.9976	10	0.11794	T	0.64	-32.6919	4.1681	0.10317	0.3985:0.0:0.3527:0.2488	.	106	Q6NVU6	UFSP1_HUMAN	D	106	ENSP00000373413:A106D	ENSP00000373413:A106D	A	-	2	0	UFSP1	100324512	0.001000	0.12720	0.001000	0.08648	0.198000	0.23893	0.338000	0.19858	-0.530000	0.06349	-0.237000	0.12165	GCT	.		0.592	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072	
VIPR2	7434	bcgsc.ca	37	7	158827326	158827326	+	Silent	SNP	G	G	A	rs2071624	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:158827326G>A	ENST00000262178.2	-	9	1010	c.825C>T	c.(823-825)aaC>aaT	p.N275N	VIPR2_ENST00000402066.1_Silent_p.N416N|VIPR2_ENST00000377633.3_Silent_p.N259N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	275					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CACTGTGGTCGTTTGTATCCC	0.483													G|||	1739	0.347244	0.2383	0.2723	5008	,	,		20595	0.5962		0.2525	False		,,,				2504	0.3885				p.N275N	Pancreas(154;1876 1931 2329 17914 20079)	.											.	VIPR2-91	0			c.C825T						.	G		916,3490	348.7+/-310.1	95,726,1382	119.0	107.0	111.0		825	-3.8	0.9	7	dbSNP_96	111	1565,7035	293.8+/-301.5	131,1303,2866	no	coding-synonymous	VIPR2	NM_003382.4		226,2029,4248	AA,AG,GG		18.1977,20.7898,19.0758		275/439	158827326	2481,10525	2203	4300	6503	SO:0001819	synonymous_variant	7434	exon9			GTGGTCGTTTGTA	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.825C>T	7.37:g.158827326G>A		211	0		146	7	NM_003382	0	0	0	0	0	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	CCDS5950.1																																																																																			G|0.742;N|0.000		0.483	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5.0	5.0	5.0		1023	-0.3	0.0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		1	0		16	4	NM_030895	0	0	1	1	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
PLEC	5339	hgsc.bcm.edu	37	8	144998169	144998169	+	Silent	SNP	C	C	T	rs1140522	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000354958.2_Silent_p.A1954A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5.0	7.0	6.0		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0.0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6339G>A	8.37:g.144998169C>T		0	0		12	12	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998190	144998190	+	Silent	SNP	A	A	G	rs2857829	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000354958.2_Silent_p.A1947A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7.0	8.0	8.0		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0.0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6318T>C	8.37:g.144998190A>G		0	0		21	21	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	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)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		8	8	NM_213605	0	0	0	1	1		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
JAK2	3717	bcgsc.ca	37	9	5081780	5081780	+	Silent	SNP	G	G	A	rs2230724	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr9:5081780G>A	ENST00000381652.3	+	19	2984	c.2490G>A	c.(2488-2490)ctG>ctA	p.L830L	JAK2_ENST00000539801.1_Silent_p.L830L|JAK2_ENST00000544510.1_Silent_p.L681L|AL161450.1_ENST00000601793.1_Intron	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	830					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAGGTGCCCTGGGGTTTTCTG	0.348		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				A|||	3089	0.616813	0.9312	0.5879	5008	,	,		17517	0.4395		0.5239	False		,,,				2504	0.4908				p.L830L		.		Dom	yes		9	9p24	3717	Janus kinase 2		L	.	JAK2-75307	0			c.G2490A						.	A		3825,581	258.0+/-262.2	1671,483,49	109.0	110.0	110.0		2490	-3.0	0.1	9	dbSNP_98	110	4294,4306	577.7+/-390.6	1073,2148,1079	no	coding-synonymous	JAK2	NM_004972.3		2744,2631,1128	AA,AG,GG		49.9302,13.1866,37.575		830/1133	5081780	8119,4887	2203	4300	6503	SO:0001819	synonymous_variant	3717	exon19	Familial Cancer Database		TGCCCTGGGGTTT		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2490G>A	9.37:g.5081780G>A		85	0		98	6	NM_004972	0	0	1	1	0	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																			G|0.386;A|0.614		0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
ERMP1	79956	hgsc.bcm.edu	37	9	5832719	5832719	+	Missense_Mutation	SNP	G	G	C	rs13302671	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr9:5832719G>C	ENST00000339450.5	-	1	398	c.309C>G	c.(307-309)caC>caG	p.H103Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	103						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACTCCCCGCGGTGTCCAGCGG	0.751													G|||	78	0.0155751	0.0204	0.0216	5008	,	,		2342	0.001		0.0318	False		,,,				2504	0.0031				p.H103Q		.											.	ERMP1-69	0			c.C309G						.	G	GLN/HIS	34,3206		0,34,1586	4.0	3.0	3.0		309	4.4	0.0	9	dbSNP_121	3	104,6552		0,104,3224	yes	missense	ERMP1	NM_024896.2	24	0,138,4810	CC,CG,GG		1.5625,1.0494,1.3945	benign	103/905	5832719	138,9758	1620	3328	4948	SO:0001583	missense	79956	exon1			CCCGCGGTGTCCA	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.309C>G	9.37:g.5832719G>C	ENSP00000340427:p.His103Gln	0	0		26	6	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	38	0.0173992673992674	13	0.026422764227642278	8	0.022099447513812154	0	0.0	17	0.022427440633245383	G	5.805	0.332747	0.11013	0.010494	0.015625	ENSG00000099219	ENST00000339450	T	0.43294	0.95	4.44	4.44	0.53790	.	1.479950	0.04451	N	0.372552	T	0.14700	0.0355	L	0.38175	1.15	0.43377	D	0.995479	B;B	0.14438	0.01;0.009	B;B	0.11329	0.004;0.006	T	0.06770	-1.0808	10	0.11182	T	0.66	0.2942	10.7252	0.46064	0.0883:0.0:0.9117:0.0	rs13302671	103;103	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	Q	103	ENSP00000340427:H103Q	ENSP00000340427:H103Q	H	-	3	2	ERMP1	5822719	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	0.333000	0.19768	2.009000	0.58944	0.462000	0.41574	CAC	G|0.981;C|0.019		0.751	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
CER1	9350	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	14720202	14720202	+	Silent	SNP	G	G	T			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr9:14720202G>T	ENST00000380911.3	-	2	734	c.690C>A	c.(688-690)atC>atA	p.I230I		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	230	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCACCACCTTGATCACGGAGG	0.552																																					p.I230I		.											.	CER1-226	0			c.C690A						.						136.0	110.0	119.0					9																	14720202		2203	4300	6503	SO:0001819	synonymous_variant	9350	exon2			CACCTTGATCACG	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.690C>A	9.37:g.14720202G>T		185	1		152	34	NM_005454	0	0	0	0	0	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	CCDS6476.1																																																																																			.		0.552	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454	
MAN1B1	11253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139990835	139990835	+	Silent	SNP	A	A	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr9:139990835A>G	ENST00000371589.4	+	4	685	c.612A>G	c.(610-612)acA>acG	p.T204T	SNORD62_ENST00000362541.1_RNA|MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	204				T -> A (in Ref. 2; AAD45504). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CGCAGAGGACAGTCATCAGGT	0.582																																					p.T204T		.											.	MAN1B1-91	0			c.A612G						.						38.0	38.0	38.0					9																	139990835		2203	4300	6503	SO:0001819	synonymous_variant	11253	exon4			GAGGACAGTCATC	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.612A>G	9.37:g.139990835A>G		93	0		123	31	NM_016219	0	0	0	0	0	Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	A	6.047	0.377102	0.11466	.	.	ENSG00000177239	ENST00000535144;ENST00000542372	.	.	.	4.37	-8.75	0.00834	.	.	.	.	.	T	0.16981	0.0408	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	T	0.14364	-1.0475	4	.	.	.	-9.5714	3.7741	0.08653	0.2281:0.4579:0.188:0.126	.	.	.	.	G	178;149	.	.	S	+	1	0	MAN1B1	139110656	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-4.780000	0.00186	-2.540000	0.00486	-0.344000	0.07964	AGT	.		0.582	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219	
BEND2	139105	ucsc.edu;bcgsc.ca	37	X	18230715	18230715	+	Missense_Mutation	SNP	A	A	C	rs17274127	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chrX:18230715A>C	ENST00000380033.4	-	4	594	c.462T>G	c.(460-462)ttT>ttG	p.F154L	BEND2_ENST00000380030.3_Missense_Mutation_p.F154L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	154			F -> L (in dbSNP:rs17274127).							NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTCTTTTTGGAAAATCCACTT	0.348													C|||	770	0.203974	0.1528	0.0807	3775	,	,		12412	0.2599		0.1441	False		,,,				2504	0.1074				p.F154L		.											.	BEND2-133	0			c.T462G						.	C	LEU/PHE,LEU/PHE	736,3099		48,526,114,1058,457	168.0	155.0	159.0		462,462	-0.4	0.0	X	dbSNP_123	159	1295,5433		95,747,358,1586,1514	yes	missense,missense	BEND2	NM_001184767.1,NM_153346.4	22,22	143,1273,472,2644,1971	CC,CA,C,AA,A		19.2479,19.1917,19.2275	benign,benign	154/646,154/800	18230715	2031,8532	2203	4300	6503	SO:0001583	missense	139105	exon4			TTTTGGAAAATCC	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.462T>G	X.37:g.18230715A>C	ENSP00000369372:p.Phe154Leu	38	0		37	4	NM_001184767	0	0	0	0	0	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	382	0.23025919228450875	63	0.13695652173913042	26	0.07514450867052024	107	0.2296137339055794	72	0.10526315789473684	C	0.006	-2.111741	0.00353	0.191917	0.192479	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26223	1.82;1.75	1.22	-0.388	0.12459	.	1.468090	0.05061	N	0.479850	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21690	-1.0238	9	0.02654	T	1	.	1.6358	0.02742	0.2993:0.3281:0.0:0.3726	rs17274127;rs17274127	154;154	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	L	154	ENSP00000369372:F154L;ENSP00000369369:F154L	ENSP00000369369:F154L	F	-	3	2	BEND2	18140636	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.955000	0.03869	-0.791000	0.04486	-0.418000	0.06021	TTT	A|0.766;0|0.015		0.348	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
IL1RAPL2	26280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	104440271	104440271	+	Missense_Mutation	SNP	C	C	T	rs146735893		TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chrX:104440271C>T	ENST00000372582.1	+	3	953	c.197C>T	c.(196-198)aCg>aTg	p.T66M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T66M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	66	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.T66K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTATAGCACGGCCCAGAGC	0.468													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14967	0.0		0.0	False		,,,				2504	0.0				p.T66M		.											.	IL1RAPL2-194	1	Substitution - Missense(1)	lung(1)	c.C197T						.	C	MET/THR	1,3834		0,1,1631,571	125.0	102.0	110.0		197	1.3	1.0	X	dbSNP_134	110	0,6728		0,0,2428,1872	yes	missense	IL1RAPL2	NM_017416.1	81	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	66/687	104440271	1,10562	2203	4300	6503	SO:0001583	missense	26280	exon3			ATAGCACGGCCCA	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.197C>T	X.37:g.104440271C>T	ENSP00000361663:p.Thr66Met	173	0		118	49	NM_017416	0	0	0	0	0	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.116	0.779913	0.16120	2.61E-4	0.0	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.77877	-1.13;-1.13	5.59	1.34	0.21922	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170317	0.40818	N	0.001007	T	0.61615	0.2361	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52808	-0.8526	10	0.41790	T	0.15	.	11.3902	0.49809	0.0:0.164:0.0:0.836	.	66	Q9NP60	IRPL2_HUMAN	M	66	ENSP00000361663:T66M;ENSP00000344976:T66M	ENSP00000344976:T66M	T	+	2	0	IL1RAPL2	104326927	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	0.509000	0.22707	0.258000	0.21686	-1.229000	0.01577	ACG	C|1.000;T|0.000		0.468	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
GPR50	9248	broad.mit.edu	37	X	150348927	150348927	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chrX:150348927C>G	ENST00000218316.3	+	2	941	c.872C>G	c.(871-873)gCt>gGt	p.A291G	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	291					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTCAACGCTGTGATCTAC	0.502																																					p.A291G		.											.	GPR50-176	0			c.C872G						.						110.0	106.0	107.0					X																	150348927		2030	4181	6211	SO:0001583	missense	9248	exon2			TCAACGCTGTGAT	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.872C>G	X.37:g.150348927C>G	ENSP00000218316:p.Ala291Gly	70	0		51	3	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.949410|3.949410	0.73787|0.73787	.|.	.|.	ENSG00000102195|ENSG00000102195	ENST00000218316|ENST00000535473	T|.	0.71698|.	-0.59|.	4.24|4.24	4.24|4.24	0.50183|0.50183	GPCR, rhodopsin-like superfamily (1);|.	0.051546|.	0.85682|.	D|.	0.000000|.	T|T	0.72087|0.72087	0.3417|0.3417	M|M	0.91972|0.91972	3.26|3.26	0.48288|0.48288	D|D	0.999627|0.999627	B|B	0.33549|0.25609	0.417|0.13	B|B	0.44044|0.22880	0.439|0.042	T|T	0.73630|0.73630	-0.3922|-0.3922	10|7	0.72032|.	D|.	0.01|.	-8.8181|-8.8181	13.5977|13.5977	0.62000|0.62000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	291|194	Q13585|F5H1S3	MTR1L_HUMAN|.	G|V	291|194	ENSP00000218316:A291G|.	ENSP00000218316:A291G|.	A|L	+|+	2|1	0|2	GPR50|GPR50	150099585|150099585	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.969000|0.969000	0.65631|0.65631	7.730000|7.730000	0.84881|0.84881	1.860000|1.860000	0.53959|0.53959	0.468000|0.468000	0.43344|0.43344	GCT|CTG	.		0.502	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
CFAP45	25790	hgsc.bcm.edu	37	1	159858283	159858284	+	Frame_Shift_Ins	INS	-	-	ACACTGACACAAGAATAAACAGAGTTAGGGAGGGGAGAGGGAAAGCTCTCAGCACC			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr1:159858283_159858284insACACTGACACAAGAATAAACAGAGTTAGGGAGGGGAGAGGGAAAGCTCTCAGCACC	ENST00000368099.4	-	4	339_340	c.275_276insGGTGCTGAGAGCTTTCCCTCTCCCCTCCCTAACTCTGTTTATTCTTGTGTCAGTGT	c.(274-276)gttfs	p.V92fs	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Frame_Shift_Ins_p.V7fs	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTCTGTGGGAACACTGTCACA	0.53																																					p.V92fs		.											.	CCDC19-91	0			c.276_277insGGTGCTGAGAGCTTTCCCTCTCCCCTCCCTAACTCTGTTTATTCTTGTGTCAGTGT						.																																			SO:0001589	frameshift_variant	25790	exon4			TGTGGGAACACTG																												ENST00000368099.4:c.275_276insGGTGCTGAGAGCTTTCCCTCTCCCCTCCCTAACTCTGTTTATTCTTGTGTCAGTGT	1.37:g.159858283_159858284insACACTGACACAAGAATAAACAGAGTTAGGGAGGGGAGAGGGAAAGCTCTCAGCACC	ENSP00000357079:p.Val92fs	69	0		82	0	NM_012337	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000368099.4	37	CCDS30914.1																																																																																			.		0.530	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
PPHLN1	51535	hgsc.bcm.edu	37	12	42839868	42839869	+	Splice_Site	INS	-	-	CCCCGCAGC			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr12:42839868_42839869insCCCCGCAGC	ENST00000395568.2	+	12	1210_1211	c.1126_1127insCCCCGCAGC	c.(1126-1128)gcc>gCCCCGCAGCcc	p.379_380insPQP	PPHLN1_ENST00000256678.8_In_Frame_Ins_p.284_285insPQP|PPHLN1_ENST00000432191.2_In_Frame_Ins_p.355_356insPQP|PPHLN1_ENST00000317560.9_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	379					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gaccctgcaggccccgcagccc	0.624																																					p.A376delinsAPQP		.											.	PPHLN1-154	0			c.1126_1127insCCCCGCAGC						.																																			SO:0001630	splice_region_variant	51535	exon12			CTGCAGGCCCCGC	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1126-1->CCCCGCAGC	12.37:g.42839869_42839877dupCCCCGCAGC		32	0		54	10	NM_016488	0	0	0	0	0	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	In_Frame_Ins	INS	ENST00000395568.2	37	CCDS31777.1																																																																																			.		0.624	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515	In_Frame_Ins
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	104147000	104147001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr12:104147000_104147001insC	ENST00000388887.2	+	61	6787_6788	c.6583_6584insC	c.(6583-6585)accfs	p.T2195fs	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATCCAGATACCACTGTTGGG	0.54																																					p.T2195fs		.											.	STAB2-104	0			c.6583_6584insC						.																																			SO:0001589	frameshift_variant	55576	exon61			CCAGATACCACTG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6585dupC	12.37:g.104147002_104147002dupC	ENSP00000373539:p.Thr2195fs	111	0		113	18	NM_017564	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000388887.2	37	CCDS31888.1																																																																																			.		0.540	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
AVL9	23080	broad.mit.edu	37	7	32535342	32535343	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr7:32535342_32535343insG	ENST00000318709.4	+	1	242_243	c.21_22insG	c.(22-24)gggfs	p.G8fs	AVL9_ENST00000404479.1_Frame_Shift_Ins_p.G8fs|LSM5_ENST00000409952.3_5'Flank|AVL9_ENST00000459629.1_3'UTR|AVL9_ENST00000409301.1_Frame_Shift_Ins_p.G8fs|LSM5_ENST00000409909.3_5'Flank	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	8					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCAGGAGAGGCGGGGATGGCGT	0.718																																					p.G7fs		.											.	AVL9-90	0			c.21_22insG						.			54,3176		7,40,1568						-1.4	0.0			11	106,6304		12,82,3111	no	frameshift	AVL9	NM_015060.1		19,122,4679	A1A1,A1R,RR		1.6537,1.6718,1.6598				160,9480				SO:0001589	frameshift_variant	23080	exon1			GAGAGGCGGGGAT	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.25dupG	7.37:g.32535346_32535346dupG	ENSP00000315568:p.Gly8fs	66	0		125	2	NM_015060	0	0	0	0	0	Q92573	Frame_Shift_Ins	INS	ENST00000318709.4	37	CCDS34613.1																																																																																			.		0.718	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
SPATA31C1	441452	hgsc.bcm.edu	37	9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA	rs567658963|rs536300617	byFrequency	TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		323	0		293	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57485075	57485076	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-OR-A5JE-01A-11D-A29I-10	TCGA-OR-A5JE-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47acecb9-da85-4bde-8564-77cb7023e9db	37df5530-439e-480c-ae45-fdb5ec948e68	g.chr20:57485075_57485076TG>CT	ENST00000371085.3	+	11	1333_1334	c.909_910TG>CT	c.(907-912)gcTGgg>gcCTgg	p.G304W	GNAS_ENST00000306090.10_Missense_Mutation_p.G290W|GNAS_ENST00000371100.4_Missense_Mutation_p.G947W|GNAS_ENST00000371102.4_Missense_Mutation_p.G933W|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.G290W|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.G289W|GNAS_ENST00000354359.7_Missense_Mutation_p.G305W|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	304					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A946A(1)|p.A303A(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGTCCTTGCTGGGAAATCGAA	0.505			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.G947W	Colon(117;935 1597 6045 8307 46442)	.		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	.	GNAS-4767	2	Substitution - coding silent(2)	lung(2)	c.G2839T	GRCh37	CI002550	GNAS	I		.																																			SO:0001583	missense	2778	exon11			CTTGCTGGGAAAT	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	Exception_encountered	20.37:g.57485075_57485076delinsCT	ENSP00000360126:p.Gly304Trp	97	0		132	0	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	DNP	ENST00000371085.3	37	CCDS13472.1																																																																																			.		0.505	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516	
