#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
AKR7L	246181	bcgsc.ca	37	1	19595159	19595159	+	RNA	SNP	C	C	T	rs116631486	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:19595159C>T	ENST00000429712.1	-	0	860				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTTCTCCACCAGGGCAATGC	0.627													.|||	155	0.0309505	0.0	0.0202	5008	,	,		16629	0.0476		0.0288	False		,,,				2504	0.0654				.		.											.	AKR7L-90	0			.						.	C		47,4359	47.5+/-82.1	0,47,2156	84.0	76.0	79.0			2.7	1.0	1	dbSNP_132	79	335,8265	115.7+/-175.5	10,315,3975	no	intergenic				10,362,6131	TT,TC,CC		3.8953,1.0667,2.9371			19595159	382,12624	2203	4300	6503			246181	.			CTCCACCAGGGCA			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595159C>T		161	2		133	5	.	0	0	0	0	0	Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																				C|0.972;T|0.028		0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252	
GMEB1	10691	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	29040851	29040851	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:29040851G>A	ENST00000294409.2	+	10	1378	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	GMEB1_ENST00000373816.1_Missense_Mutation_p.G420S|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.G420S	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	430					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCAGCCAGGGCTCCAGTCC	0.572																																					p.G430S		.											.	GMEB1-90	0			c.G1288A						.						116.0	94.0	102.0					1																	29040851		2203	4300	6503	SO:0001583	missense	10691	exon10			AGCCAGGGCTCCA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1288G>A	1.37:g.29040851G>A	ENSP00000294409:p.Gly430Ser	259	2		174	131	NM_006582	0	0	0	4	4	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325072	0.60634	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.56275	0.47;0.47;0.47	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	L	0.40543	1.245	0.25913	N	0.983204	B;B	0.25521	0.128;0.128	B;B	0.23018	0.043;0.043	T	0.29488	-1.0010	10	0.27785	T	0.31	-23.9324	16.8601	0.86016	0.0:0.0:1.0:0.0	.	430;420	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	420;420;430	ENSP00000362922:G420S;ENSP00000355186:G420S;ENSP00000294409:G430S	ENSP00000294409:G430S	G	+	1	0	GMEB1	28913438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.379000	0.52440	2.716000	0.92895	0.655000	0.94253	GGC	.		0.572	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	
COL16A1	1307	bcgsc.ca	37	1	32165495	32165495	+	Missense_Mutation	SNP	G	G	T	rs2228552	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:32165495G>T	ENST00000373672.3	-	4	701	c.185C>A	c.(184-186)aCg>aAg	p.T62K	COL16A1_ENST00000373668.3_Missense_Mutation_p.T62K|COL16A1_ENST00000271069.6_Missense_Mutation_p.T62K	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	62	Laminin G-like.		T -> K (in dbSNP:rs2228552). {ECO:0000269|PubMed:1631157}.		cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GATGGCAGACGTCTTCATGAG	0.607													g|||	2140	0.427316	0.261	0.4553	5008	,	,		18858	0.2708		0.6481	False		,,,				2504	0.5665				p.T62K	Colon(143;498 1786 21362 25193 36625)	.											.	COL16A1-98	0			c.C185A						.		LYS/THR	1393,2625		248,897,864	103.0	102.0	103.0		185	-2.4	0.1	1	dbSNP_98	103	5284,3044		1698,1888,578	yes	missense	COL16A1	NM_001856.3	78	1946,2785,1442	TT,TG,GG		36.5514,34.669,45.9177	benign	62/1605	32165495	6677,5669	2009	4164	6173	SO:0001583	missense	1307	exon4			GCAGACGTCTTCA	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.185C>A	1.37:g.32165495G>T	ENSP00000362776:p.Thr62Lys	132	1		69	5	NM_001856	0	0	2	2	0	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	936	0.42857142857142855	125	0.2540650406504065	183	0.505524861878453	135	0.23601398601398602	493	0.6503957783641161	g	11.33	1.607805	0.28623	0.34669	0.634486	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.24538	1.85;1.85;1.85	4.63	-2.4	0.06583	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.848291	0.10321	N	0.688765	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	D;B	0.54964	0.969;0.047	P;B	0.45195	0.473;0.045	T	0.37888	-0.9686	9	0.38643	T	0.18	.	8.0524	0.30585	0.4022:0.1013:0.4966:0.0	rs2228552;rs2297673;rs10798885;rs17498623;rs52810622;rs56583694;rs58033914;rs2228552	62;62	A6NCT7;Q07092	.;COGA1_HUMAN	K	62	ENSP00000362776:T62K;ENSP00000271069:T62K;ENSP00000362772:T62K	ENSP00000271069:T62K	T	-	2	0	COL16A1	31938082	0.000000	0.05858	0.076000	0.20297	0.704000	0.40688	-0.788000	0.04614	-1.129000	0.02918	-2.101000	0.00361	ACG	G|0.551;T|0.449		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
INPP5B	3633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	38397696	38397696	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:38397696A>T	ENST00000373026.1	-	6	421	c.421T>A	c.(421-423)Ttc>Atc	p.F141I	INPP5B_ENST00000373021.1_Missense_Mutation_p.F141I|INPP5B_ENST00000373024.3_Missense_Mutation_p.F141I|INPP5B_ENST00000373027.1_5'Flank|INPP5B_ENST00000373023.2_Missense_Mutation_p.F141I			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	141	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCACAGGAATTCAGGATCC	0.587																																					p.F141I		.											.	INPP5B-227	0			c.T421A						.						23.0	26.0	25.0					1																	38397696		1966	4156	6122	SO:0001583	missense	3633	exon7			ACAGGAATTCAGG	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.421T>A	1.37:g.38397696A>T	ENSP00000362117:p.Phe141Ile	29	0		20	9	NM_005540	0	0	0	0	0	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	A	16.93	3.258828	0.59321	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.94537	-3.45;-3.45;-3.44;0.56	5.0	5.0	0.66597	.	1.548380	0.03216	N	0.176789	D	0.97012	0.9024	M	0.62723	1.935	0.80722	D	1	B;D;P	0.76494	0.155;0.999;0.502	B;D;B	0.81914	0.035;0.995;0.291	D	0.89619	0.3847	10	0.87932	D	0	.	11.2602	0.49078	1.0:0.0:0.0:0.0	.	141;141;141	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	I	141	ENSP00000362114:F141I;ENSP00000362117:F141I;ENSP00000362115:F141I;ENSP00000362112:F141I	ENSP00000362112:F141I	F	-	1	0	INPP5B	38170283	0.999000	0.42202	0.945000	0.38365	0.691000	0.40173	4.007000	0.57093	2.225000	0.72522	0.460000	0.39030	TTC	.		0.587	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540	
RSBN1	54665	hgsc.bcm.edu	37	1	114354654	114354654	+	Silent	SNP	T	T	C	rs3195954	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13.0	24.0	21.0		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		0	0		11	10	NM_018364	0	0	0	2	2	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
IGSF3	3321	ucsc.edu;bcgsc.ca	37	1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	rs76151115	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q|IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																					p.R680Q		.											.	IGSF3-92	0			c.G2039A						.						69.0	54.0	59.0					1																	117142613		2203	4300	6503	SO:0001583	missense	3321	exon8			GCCAGTCGCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln	102	4		94	21	NM_001542	0	0	1	1	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA	C|0.990;T|0.010		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	247599417	247599417	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:247599417C>G	ENST00000336119.3	+	6	3390	c.2644C>G	c.(2644-2646)Cca>Gca	p.P882A	NLRP3_ENST00000391828.3_Missense_Mutation_p.P882A|NLRP3_ENST00000391827.2_Missense_Mutation_p.P825A|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	882					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCAAGAATCCACAGTGTAA	0.448																																					p.P882A		.											.	NLRP3-674	0			c.C2644G						.						92.0	86.0	88.0					1																	247599417		2203	4300	6503	SO:0001583	missense	114548	exon6			AAGAATCCACAGT	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2644C>G	1.37:g.247599417C>G	ENSP00000337383:p.Pro882Ala	106	0		103	45	NM_004895	0	0	0	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	8.713	0.912457	0.17907	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.41400	1.0;1.0;1.0	3.63	2.72	0.32119	.	0.000000	0.35739	N	0.003011	T	0.38532	0.1044	M	0.76727	2.345	0.29871	N	0.826831	B;P;B	0.40660	0.316;0.726;0.038	B;B;B	0.37267	0.081;0.245;0.012	T	0.48019	-0.9071	10	0.62326	D	0.03	.	7.1262	0.25473	0.0:0.8784:0.0:0.1216	.	862;825;882	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	A	882;882;825	ENSP00000375704:P882A;ENSP00000337383:P882A;ENSP00000375703:P825A	ENSP00000337383:P882A	P	+	1	0	NLRP3	245666040	0.199000	0.23386	0.006000	0.13384	0.005000	0.04900	2.945000	0.49043	1.132000	0.42129	0.536000	0.68110	CCA	.		0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
GPR158	57512	broad.mit.edu	37	10	25861657	25861657	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr10:25861657G>T	ENST00000376351.3	+	7	1953	c.1594G>T	c.(1594-1596)Gta>Tta	p.V532L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	532					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GATGCTGGCAGTAATACTCTT	0.433																																					p.V532L		.											.	GPR158-141	0			c.G1594T						.						260.0	187.0	212.0					10																	25861657		2203	4300	6503	SO:0001583	missense	57512	exon7			CTGGCAGTAATAC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1594G>T	10.37:g.25861657G>T	ENSP00000365529:p.Val532Leu	189	1		120	3	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679045	0.47886	.	.	ENSG00000151025	ENST00000376351	D	0.85773	-2.03	5.78	5.78	0.91487	GPCR, family 3, C-terminal (2);	0.206931	0.33631	N	0.004720	D	0.84061	0.5389	L	0.32530	0.975	0.42251	D	0.991976	B	0.32302	0.363	P	0.44647	0.456	T	0.77627	-0.2517	10	0.09338	T	0.73	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	532	Q5T848	GP158_HUMAN	L	532	ENSP00000365529:V532L	ENSP00000365529:V532L	V	+	1	0	GPR158	25901663	0.997000	0.39634	0.735000	0.30896	0.992000	0.81027	2.316000	0.43761	2.736000	0.93811	0.557000	0.71058	GTA	.		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	116225545	116225545	+	Silent	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr10:116225545C>T	ENST00000277895.5	-	12	1450	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	ABLIM1_ENST00000533213.2_Silent_p.T391T|ABLIM1_ENST00000369253.2_Silent_p.T109T|ABLIM1_ENST00000392952.3_Silent_p.T163T|ABLIM1_ENST00000369252.4_Silent_p.T391T|ABLIM1_ENST00000369266.3_Silent_p.T163T	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	451					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGCCCTGGCTCGTGGACCGAT	0.562																																					p.T451T		.											.	ABLIM1-153	0			c.G1353A						.						221.0	199.0	206.0					10																	116225545		2203	4300	6503	SO:0001819	synonymous_variant	3983	exon12			CTGGCTCGTGGAC	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1353G>A	10.37:g.116225545C>T		176	0		137	55	NM_002313	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033638	0.19590	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.41	-8.2	0.01045	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39396	-0.9616	4	.	.	.	.	0.4234	0.00460	0.3467:0.1462:0.2234:0.2836	.	.	.	.	Q	360	.	.	R	-	2	0	ABLIM1	116215535	0.731000	0.28111	0.573000	0.28510	0.943000	0.58893	-0.181000	0.09740	-1.655000	0.01497	-2.366000	0.00237	CGA	.		0.562	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
KRTAP5-4	387267	bcgsc.ca	37	11	1643204	1643204	+	Silent	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:1643204G>A	ENST00000399682.1	-	1	164	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccggagccacagc	0.692																																					p.S40S		.											.	.	0			c.C120T						.						5.0	13.0	11.0					11																	1643204		513	1327	1840	SO:0001819	synonymous_variant	387267	exon1			ACAGCCGGAGCCA	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.120C>T	11.37:g.1643204G>A		42	0		92	20	NM_001012709	0	0	1	1	0		Silent	SNP	ENST00000399682.1	37																																																																																				.		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
OR52N1	79473	bcgsc.ca	37	11	5809746	5809746	+	Missense_Mutation	SNP	C	C	T	rs10742787	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:5809746C>T	ENST00000317078.1	-	1	300	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	101			A -> T (in dbSNP:rs10742787).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACATCTGGGCGAGGCAGGCT	0.507													C|||	1612	0.321885	0.4584	0.2738	5008	,	,		24308	0.2004		0.332	False		,,,				2504	0.2863				p.A101T		.											.	OR52N1-69	0			c.G301A						.	C	THR/ALA	1899,2503	544.9+/-376.7	400,1099,702	150.0	138.0	142.0		301	1.5	0.7	11	dbSNP_120	142	2639,5953	424.9+/-354.8	396,1847,2053	yes	missense	OR52N1	NM_001001913.1	58	796,2946,2755	TT,TC,CC		30.7146,43.1395,34.9238	benign	101/321	5809746	4538,8456	2201	4296	6497	SO:0001583	missense	79473	exon1			TCTGGGCGAGGCA	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.301G>A	11.37:g.5809746C>T	ENSP00000322823:p.Ala101Thr	164	1		152	6	NM_001001913	0	0	0	0	0	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	668	0.3058608058608059	218	0.44308943089430897	94	0.2596685082872928	109	0.19055944055944055	247	0.3258575197889182	C	0.012	-1.671662	0.00758	0.431395	0.307146	ENSG00000181001	ENST00000317078	T	0.03004	4.08	4.59	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.426972	0.19690	N	0.108285	T	0.00012	0.0000	N	0.10972	0.075	0.54753	P	1.8999999999991246E-5	B	0.06786	0.001	B	0.08055	0.003	T	0.43940	-0.9360	9	0.02654	T	1	.	3.9046	0.09177	0.1428:0.577:0.1179:0.1623	rs10742787;rs59383013;rs10742787	101	Q8NH53	O52N1_HUMAN	T	101	ENSP00000322823:A101T	ENSP00000322823:A101T	A	-	1	0	OR52N1	5766322	0.000000	0.05858	0.731000	0.30826	0.146000	0.21551	-2.069000	0.01381	-0.010000	0.14271	-0.921000	0.02739	GCC	C|0.675;T|0.325		0.507	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
EIF3F	8665	hgsc.bcm.edu	37	11	8009015	8009015	+	Missense_Mutation	SNP	C	C	T	rs1043738	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:8009015C>T	ENST00000533626.1	+	3	742	c.116C>T	c.(115-117)cCc>cTc	p.P39L	EIF3F_ENST00000309828.4_Missense_Mutation_p.P39L|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.P54L					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		gctccggttcccgctgcggct	0.721											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	166	0.033147	0.0779	0.0288	5008	,	,		11578	0.0		0.0358	False		,,,				2504	0.0072				p.P39L		.											.	EIF3F-500	0			c.C116T						.						15.0	18.0	17.0					11																	8009015		1599	3496	5095	SO:0001583	missense	8665	exon1			CGGTTCCCGCTGC	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.116C>T	11.37:g.8009015C>T	ENSP00000431800:p.Pro39Leu	0	0	646	6	6	NM_003754	0	0	7	88	81		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	80	0.03663003663003663	36	0.07317073170731707	13	0.03591160220994475	0	0.0	31	0.040897097625329816	c	5.951	0.359529	0.11239	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828	T;T;T	0.48522	0.81;1.63;0.81	2.96	2.05	0.26809	.	0.606524	0.14392	N	0.322479	T	0.02455	0.0075	L	0.29908	0.895	0.26254	N	0.978683	B	0.28378	0.209	B	0.26094	0.066	T	0.04307	-1.0961	10	0.18710	T	0.47	-8.1011	8.28	0.31896	0.0:0.8759:0.0:0.1241	rs1043738;rs2230556;rs3183384;rs11538181	39	O00303	EIF3F_HUMAN	L	39;54;39	ENSP00000431800:P39L;ENSP00000442283:P54L;ENSP00000310040:P39L	ENSP00000310040:P39L	P	+	2	0	EIF3F	7965591	0.136000	0.22515	0.002000	0.10522	0.010000	0.07245	1.371000	0.34250	0.847000	0.35167	0.544000	0.68410	CCC	C|0.964;T|0.036		0.721	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
LDHA	3939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	18428729	18428729	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:18428729C>G	ENST00000422447.3	+	8	1173	c.900C>G	c.(898-900)atC>atG	p.I300M	AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000540430.1_Missense_Mutation_p.I329M|LDHA_ENST00000430553.2_Missense_Mutation_p.I242M|LDHA_ENST00000542179.1_Missense_Mutation_p.I300M|LDHA_ENST00000379412.5_Missense_Mutation_p.I300M|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000227157.4_3'UTR	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	300					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						AGAATGGAATCTCAGACCTTG	0.403																																					p.I329M		.											.	LDHA-650	0			c.C987G						.						65.0	62.0	63.0					11																	18428729		2199	4291	6490	SO:0001583	missense	3939	exon8			TGGAATCTCAGAC	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.900C>G	11.37:g.18428729C>G	ENSP00000395337:p.Ile300Met	186	0		159	10	NM_001165414	1	0	580	606	25	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325308	0.60743	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.88	3.94	0.45596	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.074092	0.56097	D	0.000025	T	0.78904	0.4357	M	0.93678	3.445	0.40871	D	0.983914	P;D;P;B	0.54772	0.648;0.968;0.871;0.076	P;P;P;P	0.59643	0.743;0.861;0.648;0.749	T	0.82657	-0.0349	10	0.87932	D	0	-2.3281	7.5432	0.27751	0.0:0.7087:0.147:0.1443	.	329;242;273;300	B7Z5E3;B4DKQ2;B4DJI1;P00338	.;.;.;LDHA_HUMAN	M	300;242;272;273;329;300;300	ENSP00000395337:I300M;ENSP00000406172:I242M;ENSP00000445175:I329M;ENSP00000368722:I300M;ENSP00000445331:I300M	ENSP00000368722:I300M	I	+	3	3	LDHA	18385305	0.931000	0.31567	1.000000	0.80357	0.992000	0.81027	0.041000	0.13927	2.431000	0.82371	0.456000	0.33151	ATC	.		0.403	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
FNBP4	23360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	47772525	47772525	+	Silent	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:47772525C>A	ENST00000263773.5	-	6	861	c.849G>T	c.(847-849)acG>acT	p.T283T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	283						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAACAGAAATCGTTTTCTCCT	0.338																																					p.T283T		.											.	FNBP4-91	0			c.G849T						.						136.0	120.0	125.0					11																	47772525		1842	4092	5934	SO:0001819	synonymous_variant	23360	exon6			AGAAATCGTTTTC	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.849G>T	11.37:g.47772525C>A		77	0		43	30	NM_015308	0	0	1	4	3	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																			.		0.338	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
CCDC88B	283234	hgsc.bcm.edu	37	11	64112617	64112617	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:64112617G>T	ENST00000356786.5	+	14	2648	c.2604G>T	c.(2602-2604)gaG>gaT	p.E868D	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	868						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGAAGGAGGCCCTCCAGG	0.657																																					p.E868D		.											.	CCDC88B-94	0			c.G2604T						.						4.0	5.0	5.0					11																	64112617		1946	3931	5877	SO:0001583	missense	283234	exon14			GAAGGAGGCCCTC	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2604G>T	11.37:g.64112617G>T	ENSP00000349238:p.Glu868Asp	13	0		33	4	NM_032251	0	0	0	0	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	2.893	-0.229293	0.06022	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.74	-0.47	0.12131	.	.	.	.	.	T	0.12475	0.0303	N	0.14661	0.345	0.80722	D	1	B;B;B	0.27732	0.083;0.187;0.083	B;B;B	0.30495	0.027;0.116;0.027	T	0.18116	-1.0347	9	0.18276	T	0.48	.	7.3235	0.26542	0.4543:0.0:0.5457:0.0	.	868;517;868	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	868	ENSP00000349238:E868D	ENSP00000349238:E868D	E	+	3	2	CCDC88B	63869193	0.064000	0.20934	0.959000	0.39883	0.032000	0.12392	0.513000	0.22770	0.023000	0.15187	-0.494000	0.04653	GAG	.		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	
CST6	1474	hgsc.bcm.edu	37	11	65779590	65779590	+	Silent	SNP	C	C	T	rs1131544	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5.0	6.0	5.0		75	-4.6	0.0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		0	0		6	6	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810209	65810209	+	Silent	SNP	C	C	T	rs61895584	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	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		4	4	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	
TPCN2	219931	bcgsc.ca	37	11	68840160	68840160	+	Missense_Mutation	SNP	A	A	G	rs3750965	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:68840160A>G	ENST00000294309.3	+	12	1228	c.1127A>G	c.(1126-1128)aAa>aGa	p.K376R	TPCN2_ENST00000442692.2_Intron|TPCN2_ENST00000542467.1_Missense_Mutation_p.K376R	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	376			K -> R (in dbSNP:rs3750965).		calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCTCCCACAAACAGGCCATG	0.632													A|||	1456	0.290735	0.2322	0.1945	5008	,	,		15326	0.2063		0.3032	False		,,,				2504	0.5123				p.K376R		.											.	TPCN2-90	0			c.A1127G						.	A	ARG/LYS	1078,3322	387.7+/-326.6	133,812,1255	51.0	49.0	50.0	http://www.ncbi.nlm.nih.gov/pubmed?term	1127	2.6	0.0	11	dbSNP_107	50	2710,5878	429.7+/-356.3	408,1894,1992	yes	missense	TPCN2	NM_139075.3	26	541,2706,3247	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	31.5557,24.5,29.1654	benign	376/753	68840160	3788,9200	2200	4294	6494	SO:0001583	missense	219931	exon12			CCCACAAACAGGC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1127A>G	11.37:g.68840160A>G	ENSP00000294309:p.Lys376Arg	161	1		108	6	NM_139075	0	0	0	0	0	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	558	0.2554945054945055	104	0.21138211382113822	83	0.2292817679558011	135	0.23601398601398602	236	0.3113456464379947	A	0.628	-0.818239	0.02776	0.245	0.315557	ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.96913	-4.16;-4.17	4.94	2.61	0.31194	.	0.188884	0.44688	N	0.000427	T	0.00039	0.0001	M	0.64997	1.995	0.33812	P	0.37205200000000005	B;B;B	0.33379	0.287;0.287;0.41	B;B;B	0.29524	0.048;0.048;0.103	T	0.00862	-1.1536	9	0.25106	T	0.35	-5.9663	6.5291	0.22316	0.8026:0.0:0.1974:0.0	rs3750965;rs57180849;rs3750965	376;376;291	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	R	376;291;376	ENSP00000294309:K376R;ENSP00000445551:K376R	ENSP00000294309:K376R	K	+	2	0	TPCN2	68596736	0.057000	0.20700	0.030000	0.17652	0.117000	0.20001	0.272000	0.18644	0.327000	0.23409	0.459000	0.35465	AAA	A|0.718;G|0.282		0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
TAS2R50	259296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	11138943	11138943	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:11138943G>T	ENST00000506868.1	-	1	568	c.517C>A	c.(517-519)Cat>Aat	p.H173N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	173					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATGAAAGATGTACTGTATTC	0.383																																					p.H173N		.											.	TAS2R50-92	0			c.C517A						.						155.0	135.0	142.0					12																	11138943		2203	4300	6503	SO:0001583	missense	259296	exon1			AAAGATGTACTGT	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.517C>A	12.37:g.11138943G>T	ENSP00000424040:p.His173Asn	99	0		135	15	NM_176890	0	0	0	0	0	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	2.701	-0.270930	0.05716	.	.	ENSG00000212126	ENST00000506868	T	0.34472	1.36	2.19	-4.39	0.03611	.	1.797790	0.04166	N	0.323915	T	0.31071	0.0785	L	0.54908	1.71	0.09310	N	1	B	0.19583	0.037	B	0.24701	0.055	T	0.27502	-1.0072	10	0.42905	T	0.14	.	4.4187	0.11470	0.4517:0.0:0.3933:0.155	.	173	P59544	T2R50_HUMAN	N	173	ENSP00000424040:H173N	ENSP00000424040:H173N	H	-	1	0	TAS2R50	11030210	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.281000	0.02802	-1.203000	0.02652	0.313000	0.20887	CAT	.		0.383	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
TAS2R31	259290	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	11183657	11183657	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:11183657T>C	ENST00000390675.2	-	1	349	c.278A>G	c.(277-279)cAt>cGt	p.H93R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	93					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GTTGCTGAAATGGCCGGTTAC	0.358																																					p.H93R		.											.	.	0			c.A278G						.						99.0	124.0	116.0					12																	11183657		2106	4280	6386	SO:0001583	missense	259290	exon1			CTGAAATGGCCGG	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.278A>G	12.37:g.11183657T>C	ENSP00000375093:p.His93Arg	225	1		315	86	NM_176885	0	0	0	0	0	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693640	0.30052	.	.	ENSG00000256436	ENST00000390675	T	0.36520	1.25	2.45	1.16	0.20824	.	.	.	.	.	T	0.63965	0.2556	H	0.96301	3.8	0.09310	N	1	D	0.56287	0.975	P	0.61940	0.896	T	0.53620	-0.8413	9	0.87932	D	0	.	5.3278	0.15917	0.0:0.0:0.2973:0.7027	.	93	P59538	T2R31_HUMAN	R	93	ENSP00000375093:H93R	ENSP00000375093:H93R	H	-	2	0	TAS2R31	11074924	0.003000	0.15002	0.001000	0.08648	0.096000	0.18686	1.218000	0.32467	0.155000	0.19261	0.163000	0.16589	CAT	.		0.358	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885	
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																					p.P174fs		.											.	FAR2-90	0			c.522delA						.						108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711	exon4			GGAGCCAAAAAAA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs	153	0		235	7	NM_018099	0	0	0	0	0	F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	CCDS8717.1																																																																																			.		0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099	
KRT5	3852	bcgsc.ca	37	12	52912805	52912805	+	Missense_Mutation	SNP	C	C	T	rs200333163	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:52912805C>T	ENST00000252242.4	-	2	1085	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	232	Coil 1B.|Rod.		S -> N (in dbSNP:rs3194286).		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCACGATGCTGTCCAGCTG	0.587																																					p.S232N		.											.	KRT5-90	0			c.G695A						.						173.0	159.0	164.0					12																	52912805		2203	4300	6503	SO:0001583	missense	3852	exon2			ACGATGCTGTCCA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.695G>A	12.37:g.52912805C>T	ENSP00000252242:p.Ser232Asn	307	8		468	39	NM_000424	0	0	0	0	0	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.596|3.596	-0.082580|-0.082580	0.07141|0.07141	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000551188|ENST00000252242;ENST00000456000;ENST00000549420	.|D;D	.|0.88431	.|-2.38;-2.35	5.22|5.22	2.35|2.35	0.29111|0.29111	.|Filament (1);	.|1.042650	.|0.07529	.|N	.|0.911826	T|T	0.82010|0.82010	0.4944|0.4944	N|N	0.25332|0.25332	0.735|0.735	0.09310|0.09310	N|N	1|1	.|B	.|0.24092	.|0.097	.|B	.|0.25140	.|0.058	T|T	0.67313|0.67313	-0.5702|-0.5702	5|10	.|0.34782	.|T	.|0.22	.|.	8.0486|8.0486	0.30564|0.30564	0.0:0.4939:0.368:0.1381|0.0:0.4939:0.368:0.1381	.|.	.|232	.|P13647	.|K2C5_HUMAN	T|N	33|232;197;122	.|ENSP00000252242:S232N;ENSP00000447209:S122N	.|ENSP00000252242:S232N	A|S	-|-	1|2	0|0	KRT5|KRT5	51199072|51199072	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.018000|-0.018000	0.12568|0.12568	0.336000|0.336000	0.23639|0.23639	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
EEA1	8411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	93251238	93251238	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:93251238T>C	ENST00000322349.8	-	4	533	c.269A>G	c.(268-270)cAa>cGa	p.Q90R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	90					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTGGACCTCTTGTCTGAGCAG	0.313																																					p.Q90R		.											.	EEA1-229	0			c.A269G						.						103.0	113.0	110.0					12																	93251238		2203	4289	6492	SO:0001583	missense	8411	exon4			ACCTCTTGTCTGA	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.269A>G	12.37:g.93251238T>C	ENSP00000317955:p.Gln90Arg	137	0		202	62	NM_003566	0	0	0	0	0	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668251	0.88348	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.66638	-0.22	5.22	5.22	0.72569	.	0.000000	0.49916	D	0.000138	T	0.79269	0.4417	M	0.72894	2.215	0.58432	D	0.999999	D	0.60160	0.987	D	0.67725	0.953	T	0.78653	-0.2120	10	0.35671	T	0.21	.	15.0831	0.72130	0.0:0.0:0.0:1.0	.	90	Q15075	EEA1_HUMAN	R	90;89	ENSP00000317955:Q90R	ENSP00000317955:Q90R	Q	-	2	0	EEA1	91775369	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.644000	0.67902	1.953000	0.56701	0.533000	0.62120	CAA	.		0.313	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
TMEM119	338773	hgsc.bcm.edu	37	12	108986112	108986112	+	Silent	SNP	G	G	C	rs10861953	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:108986112G>C	ENST00000392806.3	-	2	216	c.48C>G	c.(46-48)ctC>ctG	p.L16L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	16					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAGACCCCAGGAGCAGCAACA	0.662													G|||	986	0.196885	0.1384	0.1297	5008	,	,		16113	0.256		0.1759	False		,,,				2504	0.2843				p.L16L		.											.	TMEM119-69	0			c.C48G						.	G		571,3727		46,479,1624	10.0	11.0	11.0		48	0.4	0.1	12	dbSNP_120	11	1365,6937		115,1135,2901	no	coding-synonymous	TMEM119	NM_181724.2		161,1614,4525	CC,CG,GG		16.4418,13.2852,15.3651		16/284	108986112	1936,10664	2149	4151	6300	SO:0001819	synonymous_variant	338773	exon2			CCCCAGGAGCAGC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.48C>G	12.37:g.108986112G>C		3	0		5	5	NM_181724	0	0	0	1	1	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			G|0.822;C|0.178		0.662	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724	
SPERT	220082	hgsc.bcm.edu	37	13	46288017	46288017	+	Nonsense_Mutation	SNP	C	C	A	rs79707842	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr13:46288017C>A	ENST00000310521.1	+	3	937	c.857C>A	c.(856-858)tCa>tAa	p.S286*	SPERT_ENST00000378966.3_Nonsense_Mutation_p.S250*	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	286						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCGCCCCCTCACCCCACGAG	0.721													c|||	310	0.061901	0.0068	0.0865	5008	,	,		14469	0.0982		0.0875	False		,,,				2504	0.0552				p.S286X		.											.	SPERT-91	0			c.C857A						.		stop/SER	36,3866		0,36,1915	5.0	8.0	7.0		857	3.2	0.0	13	dbSNP_131	7	419,7219		3,413,3403	no	stop-gained	SPERT	NM_152719.1		3,449,5318	AA,AC,CC		5.4857,0.9226,3.9428		286/449	46288017	455,11085	1951	3819	5770	SO:0001587	stop_gained	220082	exon3			CCCCCTCACCCCA	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.857C>A	13.37:g.46288017C>A	ENSP00000309189:p.Ser286*	1	0		4	4	NM_152719	0	0	0	0	0	A8K8I5|Q8NHV2	Nonsense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	161	0.07371794871794872	6	0.012195121951219513	23	0.06353591160220995	68	0.11888111888111888	64	0.08443271767810026	C	21.5	4.165935	0.78339	0.009226	0.054857	ENSG00000174015	ENST00000310521;ENST00000378966	.	.	.	5.05	3.24	0.37175	.	0.731762	0.12237	N	0.486921	.	.	.	.	.	.	0.09310	P	0.9999999999958166	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5116	0.27577	0.1627:0.751:0.0:0.0863	.	.	.	.	X	286;250	.	ENSP00000309189:S286X	S	+	2	0	SPERT	45186018	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.355000	0.20163	1.350000	0.45770	0.655000	0.94253	TCA	C|0.925;A|0.075		0.721	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
DAAM1	23002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	59835519	59835519	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr14:59835519T>C	ENST00000395125.1	+	25	3202	c.3179T>C	c.(3178-3180)aTt>aCt	p.I1060T	DAAM1_ENST00000351081.1_Missense_Mutation_p.I1060T|DAAM1_ENST00000360909.3_Missense_Mutation_p.I1050T|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1060					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGCAAACGTATTACCAACCAG	0.388																																					p.I1060T		.											.	DAAM1-227	0			c.T3179C						.						109.0	103.0	105.0					14																	59835519		2203	4300	6503	SO:0001583	missense	23002	exon25			AACGTATTACCAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3179T>C	14.37:g.59835519T>C	ENSP00000378557:p.Ile1060Thr	108	0		147	60	NM_014992	0	0	22	35	13	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.391451	0.25118	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.79033	-1.22;-1.23;-1.23	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);	0.099026	0.64402	D	0.000002	T	0.75664	0.3880	L	0.54323	1.7	0.58432	D	0.999992	B;B	0.33044	0.395;0.274	B;B	0.39185	0.293;0.153	T	0.71293	-0.4636	10	0.14252	T	0.57	.	15.8697	0.79101	0.0:0.0:0.0:1.0	.	1050;1060	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	T	1050;1060;1060	ENSP00000354162:I1050T;ENSP00000247170:I1060T;ENSP00000378557:I1060T	ENSP00000247170:I1060T	I	+	2	0	DAAM1	58905272	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	4.098000	0.57748	2.152000	0.67230	0.533000	0.62120	ATT	.		0.388	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
CLPX	10845	bcgsc.ca	37	15	65449228	65449228	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr15:65449228G>T	ENST00000300107.3	-	9	1288	c.1100C>A	c.(1099-1101)cCa>cAa	p.P367Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	367					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ATGAATGCCTGGCACACTGCC	0.383																																					p.P367Q		.											.	CLPX-90	0			c.C1100A						.						158.0	135.0	143.0					15																	65449228		2202	4299	6501	SO:0001583	missense	10845	exon9			ATGCCTGGCACAC	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1100C>A	15.37:g.65449228G>T	ENSP00000300107:p.Pro367Gln	100	1		66	4	NM_006660	0	0	23	23	0	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165497	0.94768	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.41065	1.01	5.75	5.75	0.90469	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.969	T	0.61695	-0.7010	10	0.87932	D	0	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	367;367	Q9H072;O76031	.;CLPX_HUMAN	Q	367	ENSP00000300107:P367Q	ENSP00000300107:P367Q	P	-	2	0	CLPX	63236281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.710000	0.92621	0.557000	0.71058	CCA	.		0.383	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660	
TMEM8A	58986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	426160	426160	+	Silent	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:426160G>A	ENST00000431232.2	-	6	1360	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	TMEM8A_ENST00000250930.3_Silent_p.L207L|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	400					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGAGATGGTGAGGGAACCCC	0.682																																					p.L400L		.											.	TMEM8A-92	0			c.C1200T						.						52.0	46.0	48.0					16																	426160		2201	4299	6500	SO:0001819	synonymous_variant	58986	exon6			GATGGTGAGGGAA	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1200C>T	16.37:g.426160G>A		72	0		236	65	NM_021259	0	0	24	33	9	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	CCDS10407.1																																																																																			.		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	
EME2	197342	hgsc.bcm.edu	37	16	1823444	1823444	+	Silent	SNP	C	C	G	rs761065	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4.0	5.0	5.0		216	-5.9	0.0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		0	0		5	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	
IGSF6	10261	hgsc.bcm.edu;bcgsc.ca	37	16	21652899	21652901	+	In_Frame_Del	DEL	TGT	TGT	-	rs562061536		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TGT	TGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:21652899_21652901delTGT	ENST00000268389.4	-	6	741_743	c.680_682delACA	c.(679-684)aacact>act	p.N227del	RNU6-196P_ENST00000384315.1_RNA|METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron|RNU6-1005P_ENST00000384519.1_RNA	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	227					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTCATAAGTGTTGTTATCTTT	0.374																																					p.227_228del		.											.	IGSF6-68	0			c.680_682del						.																																			SO:0001651	inframe_deletion	10261	exon6			CATAAGTGTTGTT	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.680_682delACA	16.37:g.21652902_21652904delTGT	ENSP00000268389:p.Asn227del	49	0		60	19	NM_005849	0	0	0	0	0	Q8WWD8	In_Frame_Del	DEL	ENST00000268389.4	37	CCDS10599.1																																																																																			.		0.374	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1		
DLGAP1	9229	broad.mit.edu	37	18	3879165	3879165	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr18:3879165C>A	ENST00000315677.3	-	4	1499	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S	DLGAP1_ENST00000584874.1_Missense_Mutation_p.A302S|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A302S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A302S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	302					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTCACCATGGCCTGGTCCATG	0.592																																					p.A302S		.											.	DLGAP1-229	0			c.G904T						.						68.0	62.0	64.0					18																	3879165		2203	4300	6503	SO:0001583	missense	9229	exon4			CCATGGCCTGGTC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.904G>T	18.37:g.3879165C>A	ENSP00000316377:p.Ala302Ser	58	2		51	7	NM_001242761	0	0	0	0	0	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508859	0.27036	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.33438	1.41;1.41	5.51	5.51	0.81932	.	0.051420	0.85682	D	0.000000	T	0.27349	0.0671	L	0.41492	1.28	0.53688	D	0.999976	P;P;B	0.44521	0.539;0.837;0.05	B;P;B	0.45276	0.193;0.475;0.038	T	0.01889	-1.1253	10	0.15952	T	0.53	-21.8331	10.5308	0.44975	0.0:0.8821:0.0:0.1179	.	302;302;302	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	S	302	ENSP00000316377:A302S;ENSP00000445973:A302S	ENSP00000316377:A302S	A	-	1	0	DLGAP1	3869165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.674000	0.54598	2.605000	0.88082	0.655000	0.94253	GCC	.		0.592	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
LAMA1	284217	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	7007263	7007263	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr18:7007263C>T	ENST00000389658.3	-	29	4228	c.4135G>A	c.(4135-4137)Ggg>Agg	p.G1379R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1379	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTGGTACCCAGGGGCGCAG	0.537																																					p.G1379R		.											.	LAMA1-149	0			c.G4135A						.						47.0	41.0	43.0					18																	7007263		2203	4300	6503	SO:0001583	missense	284217	exon29			GGTACCCAGGGGC	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4135G>A	18.37:g.7007263C>T	ENSP00000374309:p.Gly1379Arg	58	1		58	25	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539365	0.85917	.	.	ENSG00000101680	ENST00000389658	T	0.66638	-0.22	5.83	5.83	0.93111	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86794	0.1987	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1379	P25391	LAMA1_HUMAN	R	1379	ENSP00000374309:G1379R	ENSP00000374309:G1379R	G	-	1	0	LAMA1	6997263	1.000000	0.71417	0.760000	0.31359	0.883000	0.51084	6.507000	0.73717	2.770000	0.95276	0.655000	0.94253	GGG	.		0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
CD320	51293	hgsc.bcm.edu	37	19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	rs2232775	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000596246.1_5'UTR|CD320_ENST00000537716.2_Missense_Mutation_p.Q8R	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		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						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6.0	7.0	7.0		23,23	1.9	0.0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	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.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	0	0		25	21	NM_001165895	0	0	32	47	15	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	
OR7G3	390883	bcgsc.ca	37	19	9236886	9236886	+	Silent	SNP	A	A	G	rs10424352|rs386806662	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:9236886A>G	ENST00000305444.2	-	1	740	c.741T>C	c.(739-741)gtT>gtC	p.V247V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACAAGGAAACAACGATTAAAT	0.443													G|||	2120	0.423323	0.7095	0.245	5008	,	,		20673	0.3651		0.3141	False		,,,				2504	0.3354				p.V247V		.											.	OR7G3-69	0			c.T741C						.	G		2859,1547	486.5+/-360.6	939,981,283	103.0	101.0	101.0		741	-5.8	0.0	19	dbSNP_119	101	2673,5927	685.0+/-404.0	386,1901,2013	no	coding-synonymous	OR7G3	NM_001001958.1		1325,2882,2296	GG,GA,AA		31.0814,35.1112,42.5342		247/313	9236886	5532,7474	2203	4300	6503	SO:0001819	synonymous_variant	390883	exon1			GGAAACAACGATT		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.741T>C	19.37:g.9236886A>G		140	1		187	7	NM_001001958	0	0	0	0	0	Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																			A|0.585;G|0.415		0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1		
MRI1	84245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13879744	13879744	+	Silent	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:13879744C>T	ENST00000040663.6	+	5	871	c.831C>T	c.(829-831)taC>taT	p.Y277Y	MRI1_ENST00000319545.8_Silent_p.Y230Y	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TTCCCTTCTACGTGGCTGCCC	0.602																																					p.Y277Y		.											.	MRI1-91	0			c.C831T						.						91.0	67.0	75.0					19																	13879744		2203	4300	6503	SO:0001819	synonymous_variant	84245	exon5			CTTCTACGTGGCT		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.831C>T	19.37:g.13879744C>T		140	0		176	38	NM_001031727	0	0	6	9	3		Silent	SNP	ENST00000040663.6	37	CCDS32923.1																																																																																			.		0.602	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285	
BRD4	23476	broad.mit.edu	37	19	15354176	15354176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:15354176delG	ENST00000263377.2	-	14	2925	c.2704delC	c.(2704-2706)cagfs	p.Q902fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	902					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATGGGGGGCTGTGGGAGCAGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																p.Q902fs		.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4-767	0			c.2704delC						.			25,4137		2,21,2058	8.0	10.0	9.0			4.3	1.0	19		9	20,8124		3,14,4055	no	frameshift	BRD4	NM_058243.2		5,35,6113	A1A1,A1R,RR		0.2456,0.6007,0.3657			15354176	45,12261	2160	4252	6412	SO:0001589	frameshift_variant	23476	exon14			GGGGCTGTGGGAG	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2704delC	19.37:g.15354176delG	ENSP00000263377:p.Gln902fs	4	0		49	9	NM_058243	0	0	0	0	0	O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																			.		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
GLTSCR1	29998	hgsc.bcm.edu	37	19	48205288	48205288	+	Silent	SNP	G	G	A	rs8100472	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:48205288G>A	ENST00000396720.3	+	15	4493	c.4299G>A	c.(4297-4299)gcG>gcA	p.A1433A	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1433										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCGAGCTGGCGGCCGTGGAGG	0.771													G|||	514	0.102636	0.2519	0.0548	5008	,	,		5835	0.001		0.0577	False		,,,				2504	0.0859				p.A1433A		.											.	GLTSCR1-48	0			c.G4299A						.	G		266,1774		1,264,755	1.0	2.0	2.0		4299	-3.5	1.0	19	dbSNP_116	2	222,4724		0,222,2251	no	coding-synonymous	GLTSCR1	NM_015711.3		1,486,3006	AA,AG,GG		4.4885,13.0392,6.9854		1433/1561	48205288	488,6498	1020	2473	3493	SO:0001819	synonymous_variant	29998	exon15			GCTGGCGGCCGTG	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4299G>A	19.37:g.48205288G>A		0	0		6	4	NM_015711	0	0	0	1	1	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			G|0.917;A|0.083		0.771	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	
ZNF264	9422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	57723887	57723887	+	Silent	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:57723887C>T	ENST00000263095.6	+	4	1836	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF264_ENST00000536056.1_Silent_p.F474F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	474					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)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCGCCACTTCAGCATCCACA	0.527																																					p.F474F		.											.	ZNF264-92	0			c.C1422T						.						63.0	64.0	63.0					19																	57723887		2203	4300	6503	SO:0001819	synonymous_variant	9422	exon4			CCACTTCAGCATC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1422C>T	19.37:g.57723887C>T		135	2		159	77	NM_003417	0	0	7	7	0	A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																			.		0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
CMPK2	129607	hgsc.bcm.edu	37	2	7005369	7005369	+	Silent	SNP	A	A	G	rs11678810	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1.0	5008	,	,		10694	1.0		1.0	False		,,,				2504	1.0				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3.0	4.0	4.0		459	1.6	0.0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		0	0		7	7	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	
KRTCAP3	200634	hgsc.bcm.edu;broad.mit.edu	37	2	27665608	27665609	+	Frame_Shift_Del	DEL	TC	TC	-	rs575937995	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:27665608_27665609delTC	ENST00000543753.1	+	2	238_239	c.191_192delTC	c.(190-192)atcfs	p.I64fs	KRTCAP3_ENST00000407293.1_Frame_Shift_Del_p.I46fs|KRTCAP3_ENST00000288873.3_Frame_Shift_Del_p.I64fs	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	64						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GCCAATGTCATCTCTGTCGGCT	0.698														3	0.000599042	0.0	0.0029	5008	,	,		12068	0.0		0.0	False		,,,				2504	0.001				p.64_64del		.											.	KRTCAP3-90	0			c.191_192del						.		,	5,4247		2,1,2123					,	3.8	1.0			29	7,8229		1,5,4112	no	frameshift,frameshift	KRTCAP3	NM_173853.3,NM_001168364.1	,	3,6,6235	A1A1,A1R,RR		0.085,0.1176,0.0961	,	,		12,12476				SO:0001589	frameshift_variant	200634	exon2			ATGTCATCTCTGT	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.191_192delTC	2.37:g.27665610_27665611delTC	ENSP00000442400:p.Ile64fs	4	0		19	16	NM_173853	0	0	0	0	0	B7ZL49|Q6UW42|Q8IWS5	Frame_Shift_Del	DEL	ENST00000543753.1	37	CCDS1754.1																																																																																			.		0.698	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853	
TMEM247	388946	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	46707808	46707808	+	Missense_Mutation	SNP	C	C	G	rs70940616|rs74318890		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:46707808C>G	ENST00000434431.1	+	2	382	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAACCAGCGGCAGCGGCAGCA	0.662																																					p.Q128E		.											.	.	0			c.C382G						.						30.0	40.0	37.0					2																	46707808		692	1591	2283	SO:0001583	missense	388946	exon2			CAGCGGCAGCGGC		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.382C>G	2.37:g.46707808C>G	ENSP00000388684:p.Gln128Glu	171	0		249	24	NM_001145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434431.1	37	CCDS56117.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447093	0.63178	.	.	ENSG00000187600	ENST00000434431	.	.	.	4.76	4.76	0.60689	.	0.000000	0.39475	N	0.001353	T	0.65606	0.2707	L	0.34521	1.04	.	.	.	D	0.56035	0.974	D	0.70487	0.969	T	0.71735	-0.4503	8	0.54805	T	0.06	-28.7409	14.7885	0.69821	0.0:1.0:0.0:0.0	.	128	A6NEH6	YB028_HUMAN	E	128	.	ENSP00000388684:Q128E	Q	+	1	0	AC018682.6	46561312	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.910000	0.56371	2.484000	0.83849	0.563000	0.77884	CAG	G|1.000;|0.000		0.662	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
TTC7A	57217	bcgsc.ca	37	2	47277186	47277186	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:47277186G>T	ENST00000319190.5	+	17	2385		c.e17+1		TTC7A_ENST00000409245.1_Splice_Site|TTC7A_ENST00000394850.2_Splice_Site|TTC7A_ENST00000263737.6_Splice_Site	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A						cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGACTCTGGTAAGAACGAG	0.592																																					.		.											.	TTC7A-136	0			c.2017+1G>T						.						80.0	69.0	73.0					2																	47277186		2203	4300	6503	SO:0001630	splice_region_variant	57217	exon17			ACTCTGGTAAGAA	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2017+1G>T	2.37:g.47277186G>T		97	0		71	5	NM_020458	0	0	1	1	0	Q6PIX4|Q8ND67|Q9BUS3	Splice_Site	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272364	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3515	0.74393	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC7A	47130690	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	5.218000	0.65257	2.606000	0.88127	0.655000	0.94253	.	.		0.592	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	Intron
CD8B	926	hgsc.bcm.edu	37	2	87088964	87088964	+	Silent	SNP	A	A	G	rs62146888	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	CD8B_ENST00000393759.2_Silent_p.L9L|CD8B_ENST00000331469.2_Silent_p.L9L|CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000431506.2_Silent_p.L9L|AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000393761.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		.											.	CD8B-92	0			c.T25C						.						1.0	1.0	1.0					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		0	0		5	5	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099	
INPP4A	3631	broad.mit.edu	37	2	99172244	99172244	+	Missense_Mutation	SNP	A	A	G	rs2278206	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:99172244A>G	ENST00000523221.1	+	15	1810	c.1810A>G	c.(1810-1812)Act>Gct	p.T604A	INPP4A_ENST00000409851.3_Missense_Mutation_p.T599A|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.T604A|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000545415.1_Intron|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	604			T -> A (in dbSNP:rs2278206).		inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CATGCCCTCCACTGCATGCCA	0.552													G|||	1424	0.284345	0.2375	0.3069	5008	,	,		21373	0.3155		0.2654	False		,,,				2504	0.319				p.T604A		.											.	INPP4A-227	0			c.A1810G	GRCh37	CM084964	INPP4A	M	rs2278206	.	G	ALA/THR,ALA/THR,,	351,1033		51,249,392	205.0	209.0	207.0		1810,1795,,	2.4	0.3	2	dbSNP_100	207	805,2377		104,597,890	yes	missense,missense,intron,intron	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	58,58,,	155,846,1282	GG,GA,AA		25.2986,25.3613,25.3176	benign,benign,,	604/978,599/973,,	99172244	1156,3410	692	1591	2283	SO:0001583	missense	3631	exon17			CCCTCCACTGCAT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1810A>G	2.37:g.99172244A>G	ENSP00000427722:p.Thr604Ala	108	0		100	3	NM_001134224	0	0	2	2	0	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	601	0.2751831501831502	127	0.258130081300813	110	0.30386740331491713	171	0.29895104895104896	193	0.2546174142480211	G	1.804	-0.476376	0.04414	0.253613	0.252986	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	T;T;T	0.15718	2.4;2.4;2.4	5.14	2.4	0.29515	.	0.498696	0.19604	N	0.110315	T	0.00012	0.0000	N	0.08118	0	0.24989	P	0.99154762	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47623	-0.9103	8	.	.	.	-1.1761	1.3523	0.02175	0.3134:0.1264:0.4149:0.1452	rs2278206;rs60846330;rs2278206	604;599	Q96PE3;Q96PE3-3	INP4A_HUMAN;.	A	599;604;604	ENSP00000386777:T599A;ENSP00000074304:T604A;ENSP00000427722:T604A	.	T	+	1	0	INPP4A	98538676	0.004000	0.15560	0.339000	0.25562	0.915000	0.54546	0.194000	0.17135	0.092000	0.17331	-1.653000	0.00756	ACT	A|0.729;G|0.271		0.552	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
MALL	7851	broad.mit.edu;bcgsc.ca	37	2	110873264	110873264	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:110873264C>T	ENST00000272462.2	-	1	879		c.e1+1		MALL_ENST00000427178.1_Splice_Site	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like						cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GCCGCACTCACCAGCTCGGGC	0.721																																					.		.											.	MALL-92	0			c.105+1G>A						.						15.0	16.0	16.0					2																	110873264		2173	4266	6439	SO:0001630	splice_region_variant	7851	exon2			CACTCACCAGCTC	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.105+1G>A	2.37:g.110873264C>T		54	2		146	116	NM_005434	0	0	0	0	0	B3KWR6|Q9BTU0	Splice_Site	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472407	0.43942	.	.	ENSG00000144063	ENST00000272462;ENST00000427178	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.753	0.62919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MALL	110230553	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.254000	0.58798	2.076000	0.62316	0.462000	0.41574	.	.		0.721	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434	Intron
MARCO	8685	bcgsc.ca	37	2	119739063	119739063	+	Missense_Mutation	SNP	T	T	C	rs6761637	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:119739063T>C	ENST00000327097.4	+	9	980	c.845T>C	c.(844-846)tTc>tCc	p.F282S	MARCO_ENST00000541757.1_Missense_Mutation_p.F204S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAAGGTGACTTCGGGAGGCCA	0.532													C|||	844	0.16853	0.3548	0.0476	5008	,	,		16791	0.123		0.0358	False		,,,				2504	0.1861				p.F282S	GBM(8;18 374 7467 11269 32796)	.											.	MARCO-95	0			c.T845C						.	C	SER/PHE	1300,3106	690.3+/-405.2	199,902,1102	32.0	35.0	34.0		845	4.4	0.0	2	dbSNP_116	34	448,8152	796.4+/-407.5	13,422,3865	yes	missense	MARCO	NM_006770.3	155	212,1324,4967	CC,CT,TT		5.2093,29.5052,13.44	benign	282/521	119739063	1748,11258	2203	4300	6503	SO:0001583	missense	8685	exon9			GTGACTTCGGGAG	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.845T>C	2.37:g.119739063T>C	ENSP00000318916:p.Phe282Ser	57	0		53	4	NM_006770	0	0	0	0	0	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	269	0.12316849816849818	145	0.29471544715447157	20	0.055248618784530384	72	0.1258741258741259	32	0.04221635883905013	C	3.494	-0.103147	0.06967	0.295052	0.052093	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93247	-1.68;-3.19	5.33	4.45	0.53987	.	0.611500	0.15982	N	0.235279	T	0.00012	0.0000	N	0.02403	-0.565	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08207	-1.0733	8	.	.	.	.	7.9847	0.30205	0.0:0.819:0.0:0.181	rs6761637;rs52807463;rs59619363;rs6761637	282	Q9UEW3	MARCO_HUMAN	S	282;282;204	ENSP00000318916:F282S;ENSP00000441769:F204S	.	F	+	2	0	MARCO	119455533	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	0.546000	0.23284	0.834000	0.34852	-0.119000	0.15052	TTC	T|0.873;C|0.127		0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179512177	179512177	+	Intron	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:179512177C>A	ENST00000591111.1	-	167	35599				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E13358*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			ATGATTTTCTCAGGCACTTTG	0.423																																					p.E13358X		.											.	TTN-636	0			c.G40072T						.																																			SO:0001627	intron_variant	7273	exon214			TTTTCTCAGGCAC	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.35375-1420G>T	2.37:g.179512177C>A		131	0		90	29	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.44	3.390561	0.62066	.	.	ENSG00000155657	ENST00000429997;ENST00000446966	.	.	.	6.06	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.33748	D	0.620323	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1835	0.31324	0.0:0.3041:0.0:0.6959	.	.	.	.	X	197	.	ENSP00000400616:E197X	E	-	1	0	TTN	179220422	0.000000	0.05858	0.994000	0.49952	0.727000	0.41649	0.118000	0.15605	0.519000	0.28406	-0.290000	0.09829	GAG	.		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																					p.P45P		.											.	EEF1B2-227	5	Substitution - coding silent(5)	kidney(2)|endometrium(2)|lung(1)	c.G135A						.						109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933	exon3			CCCACCGCCTGCC	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A		202	1		168	6	NM_021121	1	0	496	497	0	A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	CCDS2367.1																																																																																			.		0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663	
KIF1A	547	hgsc.bcm.edu	37	2	241696843	241696843	+	Intron	SNP	C	C	A	rs537608637|rs10594016|rs533559120		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:241696843C>A	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E917D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		cctcctcatcctcctcctcct	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8551	0.0		0.0	False		,,,				2504	0.0				p.E917D		.											.	KIF1A-91	0			c.G2751T						.																																			SO:0001627	intron_variant	547	exon27			CTCATCCTCCTCC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933G>T	2.37:g.241696843C>A		146	0		148	7	NM_001244008	0	0	2	2	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825706	0.16749	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73047	-0.63;-0.71	4.04	3.16	0.36331	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.27599	N	0.949023	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21690	-1.0238	8	0.08381	T	0.77	.	12.6857	0.56946	0.1669:0.833:0.0:0.0	.	917;917	F5H045;Q12756-2	.;.	D	917	ENSP00000438388:E917D;ENSP00000384231:E917D	ENSP00000362405:E917D	E	-	3	2	KIF1A	241345516	0.997000	0.39634	0.999000	0.59377	0.888000	0.51559	0.203000	0.17315	0.685000	0.31468	-0.372000	0.07161	GAG	.		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
FAM182B	728882	broad.mit.edu	37	20	25755510	25755510	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:25755510C>T	ENST00000376403.1	-	3	824	c.446G>A	c.(445-447)cGc>cAc	p.R149H	FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	149										lung(1)	1						CCTTCCATCGCGGCCACCATG	0.706																																					.		.											.	.	0			.						.																																			SO:0001583	missense	728882	.			CCATCGCGGCCAC			20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.446G>A	20.37:g.25755510C>T	ENSP00000365585:p.Arg149His	13	0		77	4	.	0	0	0	0	0	Q4G0Q1	RNA	SNP	ENST00000376403.1	37		.	.	.	.	.	.	.	.	.	.	.	2.423	-0.332565	0.05314	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.18425	0.0442	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30822	-0.9965	3	0.15066	T	0.55	.	.	.	.	.	.	.	.	H	149	.	ENSP00000365585:R149H	R	-	2	0	FAM182B	25703510	0.001000	0.12720	0.047000	0.18901	0.048000	0.14542	-1.599000	0.02085	0.064000	0.16427	0.064000	0.15345	CGC	.		0.706	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000078463.2	NR_026714	
FAM182B	728882	broad.mit.edu	37	20	25755549	25755549	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:25755549C>A	ENST00000376403.1	-	3	785	c.407G>T	c.(406-408)gGc>gTc	p.G136V	FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	136										lung(1)	1						TGGTCTGCAGCCTTCCTGGGA	0.716																																					.		.											.	.	0			.						.																																			SO:0001583	missense	728882	.			CTGCAGCCTTCCT			20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.407G>T	20.37:g.25755549C>A	ENSP00000365585:p.Gly136Val	14	0		76	6	.	0	0	0	0	0	Q4G0Q1	RNA	SNP	ENST00000376403.1	37		.	.	.	.	.	.	.	.	.	.	.	1.024	-0.684035	0.03353	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.39187	-0.9626	3	0.87932	D	0	.	.	.	.	.	.	.	.	V	136	.	ENSP00000365585:G136V	G	-	2	0	FAM182B	25703549	0.129000	0.22400	0.158000	0.22627	0.158000	0.22134	-0.337000	0.07852	0.064000	0.16427	0.064000	0.15345	GGC	.		0.716	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000078463.2	NR_026714	
SNTA1	6640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	31996515	31996515	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:31996515C>T	ENST00000217381.2	-	7	1688	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	473	SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACGATCTCGCCTTCAGCACCT	0.622																																					p.G473S		.											.	SNTA1-91	0			c.G1417A						.						100.0	98.0	99.0					20																	31996515		2203	4300	6503	SO:0001583	missense	6640	exon7			TCTCGCCTTCAGC	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1417G>A	20.37:g.31996515C>T	ENSP00000217381:p.Gly473Ser	235	0		243	102	NM_003098	0	0	0	0	0	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952340	0.92660	.	.	ENSG00000101400	ENST00000217381	D	0.85258	-1.96	4.7	4.7	0.59300	.	0.137147	0.46442	D	0.000288	D	0.89357	0.6692	M	0.79693	2.465	0.54753	D	0.999989	P;D	0.54397	0.916;0.966	P;P	0.51170	0.569;0.661	D	0.89566	0.3810	10	0.38643	T	0.18	-6.9428	17.2534	0.87048	0.0:1.0:0.0:0.0	.	398;473	B4DX40;Q13424	.;SNTA1_HUMAN	S	473	ENSP00000217381:G473S	ENSP00000217381:G473S	G	-	1	0	SNTA1	31460176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.705000	0.68355	2.156000	0.67533	0.462000	0.41574	GGC	.		0.622	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	
ACTR5	79913	hgsc.bcm.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3.0	4.0	4.0					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		0	0		6	6	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
KRTAP10-2	386679	ucsc.edu	37	21	45971225	45971225	+	Silent	SNP	T	T	C	rs587667536	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr21:45971225T>C	ENST00000391621.1	-	1	163	c.117A>G	c.(115-117)ccA>ccG	p.P39P	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	39	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GGCAGGGGGCTGGGGCACAGC	0.687													t|||	63	0.0125799	0.0408	0.0072	5008	,	,		16669	0.001		0.003	False		,,,				2504	0.0				p.P39P		.											.	KRTAP10-2-135	0			c.A117G						.						40.0	47.0	45.0					21																	45971225		2203	4298	6501	SO:0001819	synonymous_variant	386679	exon1			GGGGGCTGGGGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.117A>G	21.37:g.45971225T>C		18	1		68	9	NM_198693	0	0	0	0	0	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			.		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
DYNC1LI1	51143	bcgsc.ca	37	3	32578505	32578505	+	Missense_Mutation	SNP	T	T	C	rs2303857	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:32578505T>C	ENST00000273130.4	-	6	933	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.Q161R	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	277			Q -> R (in dbSNP:rs2303857). {ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						AAGGATACACTGTAAACAAAA	0.294													T|||	264	0.0527157	0.0393	0.0605	5008	,	,		15272	0.0536		0.0984	False		,,,				2504	0.0174				p.Q277R		.											.	DYNC1LI1-91	0			c.A830G						.	T	ARG/GLN	216,4186	130.6+/-167.2	4,208,1989	81.0	76.0	78.0		830	5.7	1.0	3	dbSNP_100	78	661,7911	166.4+/-218.3	26,609,3651	yes	missense	DYNC1LI1	NM_016141.3	43	30,817,5640	CC,CT,TT		7.7112,4.9069,6.7597	benign	277/524	32578505	877,12097	2201	4286	6487	SO:0001583	missense	51143	exon6			ATACACTGTAAAC	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.830A>G	3.37:g.32578505T>C	ENSP00000273130:p.Gln277Arg	154	2		99	7	NM_016141	0	0	0	0	0	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	CCDS2654.1	141	0.06456043956043957	20	0.04065040650406504	25	0.06906077348066299	24	0.04195804195804196	72	0.09498680738786279	T	14.69	2.612017	0.46631	0.049069	0.077112	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18174	2.23;2.23	5.66	5.66	0.87406	.	0.106709	0.64402	D	0.000003	T	0.01353	0.0044	L	0.42487	1.325	0.09310	P	0.99999531768	D;B	0.64830	0.994;0.024	D;B	0.76575	0.988;0.027	T	0.00883	-1.1528	9	0.33141	T	0.24	-4.3766	15.8884	0.79273	0.0:0.0:0.0:1.0	rs2303857;rs17638902;rs52837952;rs56832392;rs2303857	161;277	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	R	277;161	ENSP00000273130:Q277R;ENSP00000407279:Q161R	ENSP00000273130:Q277R	Q	-	2	0	DYNC1LI1	32553509	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.263000	0.72521	2.147000	0.66899	0.383000	0.25322	CAG	T|0.935;C|0.065		0.294	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141	
GMPPB	29925	broad.mit.edu	37	3	49755730	49755730	+	3'UTR	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:49755730C>A	ENST00000480687.1	-	0	4654				AMIGO3_ENST00000535833.1_Missense_Mutation_p.G390V|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.G390V|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGCACAGCCCAGCAGTGT	0.682																																					p.G390V		.											.	AMIGO3-91	0			c.G1169T						.						56.0	57.0	56.0					3																	49755730		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724	exon1			GCACAGCCCAGCA	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3455G>T	3.37:g.49755730C>A		47	3		120	13	NM_198722	0	0	0	0	0	A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777610	0.70107	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.66099	-0.19;-0.19	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78548	-0.2162	10	0.48119	T	0.1	-30.7634	18.0399	0.89316	0.0:1.0:0.0:0.0	.	390	Q86WK7	AMGO3_HUMAN	V	390	ENSP00000323096:G390V;ENSP00000439268:G390V	ENSP00000323096:G390V	G	-	2	0	AMIGO3	49730734	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.051000	0.71072	2.618000	0.88619	0.462000	0.41574	GGC	.		0.682	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334	
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	rs1403625	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	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		4	4	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-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	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		4	4	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	
CHST13	166012	hgsc.bcm.edu	37	3	126260630	126260630	+	Missense_Mutation	SNP	A	A	G	rs12495696	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:126260630A>G	ENST00000319340.2	+	3	285	c.235A>G	c.(235-237)Agc>Ggc	p.S79G		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	79					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCTGCTGAACAGCGCCTGTAG	0.716													A|||	442	0.0882588	0.0499	0.0879	5008	,	,		8598	0.1042		0.0626	False		,,,				2504	0.1503				p.S79G		.											.	CHST13-90	0			c.A235G						.	A	GLY/SER	169,4005		1,167,1919	9.0	8.0	8.0		235	-2.8	0.8	3	dbSNP_120	8	288,7872		3,282,3795	no	missense	CHST13	NM_152889.2	56	4,449,5714	GG,GA,AA		3.5294,4.0489,3.7052	benign	79/342	126260630	457,11877	2087	4080	6167	SO:0001583	missense	166012	exon3			CTGAACAGCGCCT	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.235A>G	3.37:g.126260630A>G	ENSP00000317404:p.Ser79Gly	0	0		11	10	NM_152889	0	0	0	0	0	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	137	0.06272893772893773	23	0.046747967479674794	25	0.06906077348066299	41	0.07167832167832168	48	0.0633245382585752	A	10.08	1.252004	0.22880	0.040489	0.035294	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.68331	-0.32	4.84	-2.85	0.05734	.	0.448844	0.21668	N	0.070917	T	0.05318	0.0141	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B	0.22480	0.07	B	0.24974	0.057	T	0.04373	-1.0956	9	0.40728	T	0.16	-12.1141	5.2514	0.15524	0.6241:0.184:0.1095:0.0824	rs12495696	79	Q8NET6	CHSTD_HUMAN	G	79	ENSP00000317404:S79G	ENSP00000317404:S79G	S	+	1	0	CHST13	127743320	0.989000	0.36119	0.763000	0.31416	0.782000	0.44232	1.632000	0.37102	-0.572000	0.06006	-0.619000	0.04042	AGC	A|0.936;G|0.064		0.716	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
LNX1	84708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	54439911	54439911	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:54439911A>T	ENST00000263925.7	-	2	573	c.259T>A	c.(259-261)Tgc>Agc	p.C87S	LNX1_ENST00000504605.1_5'Flank|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	87					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GACTTCTTGCAGTGCTGCAGA	0.572																																					p.C87S		.											.	LNX1-229	0			c.T259A						.						57.0	50.0	52.0					4																	54439911		1568	3582	5150	SO:0001583	missense	84708	exon2			TCTTGCAGTGCTG	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.259T>A	4.37:g.54439911A>T	ENSP00000263925:p.Cys87Ser	243	0		236	90	NM_001126328	0	0	0	0	0	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178716	0.57692	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	T;T;T;T	0.19532	4.29;2.69;2.34;2.14	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57335	-0.7829	10	0.87932	D	0	.	16.1659	0.81754	1.0:0.0:0.0:0.0	.	87	Q8TBB1	LNX1_HUMAN	S	87	ENSP00000263925:C87S;ENSP00000426445:C87S;ENSP00000421897:C87S;ENSP00000424364:C87S	ENSP00000263925:C87S	C	-	1	0	LNX1	54134668	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	8.962000	0.93254	2.221000	0.72209	0.383000	0.25322	TGC	.		0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
LNX1	84708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	54440019	54440019	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:54440019G>A	ENST00000263925.7	-	2	465	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	LNX1_ENST00000504605.1_5'Flank|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	51					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTGTCCAGGGGGTCCAGCAAA	0.567																																					p.P51S		.											.	LNX1-229	0			c.C151T						.						42.0	40.0	40.0					4																	54440019		1568	3582	5150	SO:0001583	missense	84708	exon2			CCAGGGGGTCCAG	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.151C>T	4.37:g.54440019G>A	ENSP00000263925:p.Pro51Ser	206	0		183	83	NM_001126328	0	0	0	0	0	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577973	0.86645	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	D;D;T;D	0.86956	-2.19;-2.19;1.54;-2.19	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.049803	0.85682	D	0.000000	D	0.93752	0.8003	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93516	0.6857	10	0.87932	D	0	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	51	Q8TBB1	LNX1_HUMAN	S	51	ENSP00000263925:P51S;ENSP00000426445:P51S;ENSP00000421897:P51S;ENSP00000424364:P51S	ENSP00000263925:P51S	P	-	1	0	LNX1	54134776	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.869000	0.99810	2.837000	0.97791	0.591000	0.81541	CCC	.		0.567	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
DSPP	1834	hgsc.bcm.edu	37	4	88537078	88537213	+	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	rs529175881|rs563891927|rs151217478|rs201186956|rs201078954|rs551655835|rs199799532|rs201754564|rs376726974|rs551176886|rs536124533|rs374679002|rs367717407|rs531156875|rs370267258|rs200796238|rs200745922|rs373236680|rs373805744|rs553101049|rs372453629|rs201399566|rs553323131|rs199671813|rs534854783|rs143067236|rs376515601|rs369973717|rs368984442|rs200276196	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENST00000282478.7	+	4	3297_3432	c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	c.(3262-3399)agtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtfs	p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Frame_Shift_Del_p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtgatagcagtg	0.554																																					p.1088_1133del		.											.	DSPP-90	0			c.3264_3399del						.																																			SO:0001589	frameshift_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	4.37:g.88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENSP00000282478:p.Ser1088fs	671	0		500	0	NM_014208	0	0	0	0	0	A8MUI0|O95815	Frame_Shift_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.554	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	bcgsc.ca	37	4	88537249	88537249	+	Silent	SNP	T	T	C	rs371359066		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:88537249T>C	ENST00000282478.7	+	4	3468	c.3435T>C	c.(3433-3435)agT>agC	p.S1145S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1145S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1145	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagtgacagcagtg	0.567																																					p.S1145S		.											.	DSPP-90	0			c.T3435C						.						41.0	55.0	50.0					4																	88537249		1542	2816	4358	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3435T>C	4.37:g.88537249T>C		835	24		564	33	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.567	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
SPP1	6696	bcgsc.ca	37	4	88902692	88902692	+	Silent	SNP	T	T	C	rs4754	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:88902692T>C	ENST00000395080.3	+	6	409	c.282T>C	c.(280-282)gaT>gaC	p.D94D	SPP1_ENST00000360804.4_Silent_p.D67D|SPP1_ENST00000237623.7_Silent_p.D80D|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.D94D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AAGATGATGATGACCATGTGG	0.433													T|||	1808	0.361022	0.1543	0.3775	5008	,	,		19176	0.7054		0.2813	False		,,,				2504	0.3558				p.D107D		.											.	SPP1-555	1	Substitution - coding silent(1)	prostate(1)	c.T321C	GRCh37	CM033816	SPP1	M	rs4754	.	T	,,	784,3622	315.5+/-294.2	59,666,1478	269.0	248.0	255.0		240,282,201	-9.9	0.0	4	dbSNP_52	255	2339,6261	391.6+/-343.7	348,1643,2309	no	coding-synonymous,coding-synonymous,coding-synonymous	SPP1	NM_000582.2,NM_001040058.1,NM_001040060.1	,,	407,2309,3787	CC,CT,TT		27.1977,17.7939,24.012	,,	80/301,94/315,67/288	88902692	3123,9883	2203	4300	6503	SO:0001819	synonymous_variant	6696	exon7			TGATGATGACCAT		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.282T>C	4.37:g.88902692T>C		223	2		225	9	NM_001251830	0	1	186	187	0	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	ENST00000395080.3	37	CCDS43250.1																																																																																			T|0.713;C|0.287		0.433	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3		
OSMR	9180	broad.mit.edu;bcgsc.ca	37	5	38876350	38876350	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:38876350A>G	ENST00000274276.3	+	3	523	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	OSMR_ENST00000502536.1_Missense_Mutation_p.T41A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	41					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAAGTTTCCACCAATTCTAC	0.363																																					p.T41A		.											.	OSMR-496	0			c.A121G						.						139.0	129.0	132.0					5																	38876350		2203	4300	6503	SO:0001583	missense	9180	exon3			GTTTCCACCAATT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.121A>G	5.37:g.38876350A>G	ENSP00000274276:p.Thr41Ala	245	2		422	24	NM_001168355	0	0	3	3	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	0.653	-0.808678	0.02819	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.60424	0.19;0.19	5.11	-3.83	0.04269	.	1.187760	0.05595	N	0.575290	T	0.19127	0.0459	N	0.01576	-0.805	0.09310	N	1	B;B	0.25667	0.081;0.131	B;B	0.18871	0.021;0.023	T	0.11036	-1.0604	10	0.08381	T	0.77	.	0.2878	0.00254	0.3386:0.2617:0.1906:0.2091	.	41;41	Q99650;Q99650-2	OSMR_HUMAN;.	A	41	ENSP00000422023:T41A;ENSP00000274276:T41A	ENSP00000274276:T41A	T	+	1	0	OSMR	38912107	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.980000	0.03770	-0.636000	0.05524	-0.366000	0.07423	ACC	.		0.363	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	56224609	56224609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:56224609delA	ENST00000381199.3	-	10	919	c.909delT	c.(907-909)cttfs	p.L303fs	MIER3_ENST00000381213.3_Frame_Shift_Del_p.L302fs|MIER3_ENST00000409421.1_Frame_Shift_Del_p.L240fs|MIER3_ENST00000381226.3_Frame_Shift_Del_p.L308fs|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCTTCTGTATAAGATGAAAAT	0.303																																					p.L302fs		.											.	MIER3-90	0			c.906delT						.						69.0	70.0	70.0					5																	56224609		2203	4298	6501	SO:0001589	frameshift_variant	166968	exon10			CTGTATAAGATGA	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.909delT	5.37:g.56224609delA	ENSP00000370596:p.Leu303fs	131	0		185	45	NM_152622	0	0	0	0	0	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Frame_Shift_Del	DEL	ENST00000381199.3	37																																																																																				.		0.303	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
SHROOM1	134549	broad.mit.edu	37	5	132160935	132160935	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:132160935G>T	ENST00000378679.3	-	4	1702	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	SHROOM1_ENST00000378676.1_Missense_Mutation_p.P300T|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P300T	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	300					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACTGGCGGGCCTGAAGGCA	0.592																																					p.P300T		.											.	SHROOM1-91	0			c.C898A						.						30.0	33.0	32.0					5																	132160935		2203	4300	6503	SO:0001583	missense	134549	exon1			TGGCGGGCCTGAA	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.898C>A	5.37:g.132160935G>T	ENSP00000367950:p.Pro300Thr	72	0		109	6	NM_133456	0	0	1	1	0	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578119	0.65878	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.7	4.7	0.59300	.	0.362631	0.24720	N	0.036146	T	0.38878	0.1057	L	0.32530	0.975	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.973	T	0.11665	-1.0578	10	0.52906	T	0.07	-15.8128	13.8589	0.63548	0.0:0.0:1.0:0.0	.	300;300	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	T	300	ENSP00000367950:P300T;ENSP00000324245:P300T;ENSP00000367947:P300T;ENSP00000388049:P300T	ENSP00000324245:P300T	P	-	1	0	SHROOM1	132188834	0.006000	0.16342	0.662000	0.29724	0.016000	0.09150	0.732000	0.26072	2.542000	0.85734	0.561000	0.74099	CCC	.		0.592	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	
MATR3	9782	bcgsc.ca	37	5	138661351	138661351	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:138661351G>C	ENST00000394805.3	+	13	2706	c.2371G>C	c.(2371-2373)Ggt>Cgt	p.G791R	MATR3_ENST00000502929.1_Splice_Site_p.G839R|MATR3_ENST00000502499.1_Splice_Site_p.G453R|MATR3_ENST00000503811.1_Splice_Site_p.G503R|MATR3_ENST00000394800.2_Splice_Site_p.G839R|MATR3_ENST00000510056.1_Splice_Site_p.E791Q|MATR3_ENST00000509990.1_Splice_Site_p.G791R|MATR3_ENST00000504203.1_Splice_Site_p.G453R|MATR3_ENST00000361059.2_Splice_Site_p.G791R	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	791					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTTCCTGTTGGTGAGATTTA	0.373																																					p.G791R		.											.	MATR3-91	0			c.G2371C						.						124.0	108.0	114.0					5																	138661351		2203	4300	6503	SO:0001630	splice_region_variant	9782	exon13			CCTGTTGGTGAGA	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2371+1G>C	5.37:g.138661351G>C		245	0		367	10	NM_018834	0	0	2	8	6	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.75|18.75	3.691431|3.691431	0.68271|0.68271	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000510056|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000503811;ENST00000337359	T|T;T;T;T;T;T;T;T	0.72282|0.79749	-0.64|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.046521	.|0.85682	.|D	.|0.000000	D|D	0.88370|0.88370	0.6418|0.6418	M|M	0.79475|0.79475	2.455|2.455	0.48901|0.48901	D|D	0.999726|0.999726	P|P;P;D;D	0.39094|0.76494	0.659|0.89;0.89;0.958;0.999	B|B;B;P;D	0.42959|0.72982	0.403|0.381;0.381;0.642;0.979	D|D	0.89511|0.89511	0.3771|0.3771	9|10	0.87932|0.87932	D|D	0|0	-7.1019|-7.1019	12.4462|12.4462	0.55651|0.55651	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	791|503;503;839;791	D6REM6|B7ZAV5;B4DRS1;A8MXP9;P43243	.|.;.;.;MATR3_HUMAN	Q|R	791|791;791;453;839;839;791;453;503;227	ENSP00000426743:E791Q|ENSP00000423533:G791R;ENSP00000354346:G791R;ENSP00000421218:G453R;ENSP00000422319:G839R;ENSP00000378279:G839R;ENSP00000378284:G791R;ENSP00000426030:G453R;ENSP00000423587:G503R	ENSP00000426743:E791Q|ENSP00000338208:G227R	E|G	+|+	1|1	0|0	MATR3|MATR3	138689250|138689250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.771000|6.771000	0.74996|0.74996	2.384000|2.384000	0.81235|0.81235	0.591000|0.591000	0.81541|0.81541	GAA|GGT	.		0.373	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	Missense_Mutation
DND1	373863	ucsc.edu	37	5	140052407	140052407	+	Missense_Mutation	SNP	G	G	A	rs72800920		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																					p.P76L		.											.	DND1-90	1	Substitution - Missense(1)	prostate(1)	c.C227T						.						13.0	20.0	17.0					5																	140052407		2184	4291	6475	SO:0001583	missense	373863	exon3			AACAGCGGGATAA	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu	11	0		50	6	NM_194249	0	0	0	0	0		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG	.		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249	
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140182624	140182624	+	Silent	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:140182624G>T	ENST00000522353.2	+	1	1842	c.1842G>T	c.(1840-1842)ggG>ggT	p.G614G	PCDHA3_ENST00000532566.2_Silent_p.G614G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	614	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(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCTGGGACCGGCGGTG	0.682																																					p.G614G		.											.	PCDHA3-98	0			c.G1842T						.						83.0	82.0	83.0					5																	140182624		2203	4300	6503	SO:0001819	synonymous_variant	56145	exon1			GCCTGGGACCGGC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1842G>T	5.37:g.140182624G>T		50	0		368	80	NM_031497	0	0	0	0	0	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			.		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
ATP10B	23120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	160025960	160025960	+	Silent	SNP	G	G	A	rs370433512		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:160025960G>A	ENST00000327245.5	-	22	4227	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1127					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATACCAGAAGAGCAGGTTGA	0.532																																					p.L1127L		.											.	ATP10B-72	0			c.C3381T						.	G		1,4201		0,1,2100	81.0	82.0	82.0		3381	2.5	1.0	5		82	0,8464		0,0,4232	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6332	AA,AG,GG		0.0,0.0238,0.0079		1127/1462	160025960	1,12665	2101	4232	6333	SO:0001819	synonymous_variant	23120	exon22			CCAGAAGAGCAGG	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3381C>T	5.37:g.160025960G>A		95	0		168	88	NM_025153	0	0	0	0	0	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																			.		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
CDHR2	54825	broad.mit.edu;bcgsc.ca	37	5	175995994	175995994	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:175995994A>G	ENST00000510636.1	+	5	572	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	CDHR2_ENST00000506348.1_Missense_Mutation_p.S100G|CDHR2_ENST00000261944.5_Missense_Mutation_p.S100G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CATCTCCGTGAGCGACCCCTA	0.632																																					p.S100G		.											.	CDHR2-70	0			c.A298G						.						74.0	69.0	71.0					5																	175995994		2203	4300	6503	SO:0001583	missense	54825	exon5			TCCGTGAGCGACC	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.298A>G	5.37:g.175995994A>G	ENSP00000424565:p.Ser100Gly	73	2		107	40	NM_017675	0	0	0	0	0	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478925	0.26511	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.62232	0.04;0.04;0.04	3.31	3.31	0.37934	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64427	0.2597	M	0.92923	3.36	0.09310	N	0.999999	P	0.39282	0.666	B	0.35039	0.194	T	0.61686	-0.7012	9	0.35671	T	0.21	-12.8113	6.1007	0.20045	0.751:0.0:0.0:0.249	.	100	Q9BYE9	CDHR2_HUMAN	G	100	ENSP00000424565:S100G;ENSP00000261944:S100G;ENSP00000421078:S100G	ENSP00000261944:S100G	S	+	1	0	CDHR2	175928600	0.001000	0.12720	0.285000	0.24819	0.044000	0.14063	0.550000	0.23345	1.759000	0.51996	0.454000	0.30748	AGC	.		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	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		5	5	NM_001145115	0	0	0	0	0		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	
BEND3	57673	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	107391692	107391692	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:107391692C>T	ENST00000369042.1	-	4	893	c.703G>A	c.(703-705)Gag>Aag	p.E235K	BEND3_ENST00000429433.2_Missense_Mutation_p.E235K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	235										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCACCATCTCAGTGGGGCTC	0.617																																					p.E235K		.											.	BEND3-71	0			c.G703A						.						73.0	60.0	64.0					6																	107391692		2203	4300	6503	SO:0001583	missense	57673	exon5			CCATCTCAGTGGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.703G>A	6.37:g.107391692C>T	ENSP00000358038:p.Glu235Lys	162	0		206	16	NM_001080450	0	0	0	0	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389151	0.61956	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	.	0.057327	0.64402	D	0.000002	T	0.42404	0.1201	L	0.29908	0.895	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.49799	-0.8901	9	0.66056	D	0.02	-10.2117	19.1834	0.93632	0.0:1.0:0.0:0.0	.	235	Q5T5X7	BEND3_HUMAN	K	235	.	ENSP00000358038:E235K	E	-	1	0	BEND3	107498385	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.219000	0.78000	2.774000	0.95407	0.561000	0.74099	GAG	.		0.617	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
ECT2L	345930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	139189242	139189242	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:139189242C>A	ENST00000423192.1	+	12	1638	c.1477C>A	c.(1477-1479)Cag>Aag	p.Q493K	ECT2L_ENST00000367682.2_Missense_Mutation_p.Q493K|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q424K|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	493							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTACAGGGCAGTTTATGTT	0.363			"""N, Splice, Mis"""		ETP ALL																																p.Q493K		.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L-22	0			c.C1477A						.						90.0	83.0	85.0					6																	139189242		1874	4116	5990	SO:0001583	missense	345930	exon12			ACAGGGCAGTTTA		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1477C>A	6.37:g.139189242C>A	ENSP00000387388:p.Gln493Lys	183	0		176	22	NM_001195037	0	0	0	0	0	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331048	0.41297	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75477	0.17;0.17;-0.94	5.77	5.77	0.91146	.	0.184360	0.23589	U	0.046562	T	0.77110	0.4082	M	0.68952	2.095	0.34277	D	0.681726	D;D	0.58268	0.982;0.97	P;P	0.55615	0.78;0.607	T	0.77550	-0.2546	10	0.40728	T	0.16	-0.4418	16.9027	0.86117	0.0:1.0:0.0:0.0	.	424;493	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	493;493;424	ENSP00000387388:Q493K;ENSP00000356655:Q493K;ENSP00000442307:Q424K	ENSP00000356655:Q493K	Q	+	1	0	ECT2L	139230935	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	2.874000	0.48483	2.729000	0.93468	0.655000	0.94253	CAG	.		0.363	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
CPVL	54504	broad.mit.edu;bcgsc.ca	37	7	29135786	29135786	+	Silent	SNP	C	C	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:29135786C>T	ENST00000409850.1	-	8	982	c.336G>A	c.(334-336)ccG>ccA	p.P112P	CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGAACCTCCCGGCCCACCCT	0.463																																					p.P112P		.											.	CPVL-92	0			c.G336A						.						144.0	135.0	138.0					7																	29135786		2203	4300	6503	SO:0001819	synonymous_variant	54504	exon4			ACCTCCCGGCCCA	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.336G>A	7.37:g.29135786C>T		122	1		202	10	NM_019029	0	0	7	7	0	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	CCDS5419.1																																																																																			.		0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
CUX1	1523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	101758537	101758537	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:101758537G>A	ENST00000292535.7	+	8	696	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	CUX1_ENST00000549414.2_Missense_Mutation_p.E220K|CUX1_ENST00000550008.2_Missense_Mutation_p.E220K|CUX1_ENST00000547394.2_Missense_Mutation_p.E215K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E185K|CUX1_ENST00000292538.4_Missense_Mutation_p.E231K|CUX1_ENST00000556210.1_Missense_Mutation_p.E220K|CUX1_ENST00000546411.2_Missense_Mutation_p.E220K|CUX1_ENST00000393824.3_Missense_Mutation_p.E194K|CUX1_ENST00000437600.4_Missense_Mutation_p.E231K|CUX1_ENST00000360264.3_Missense_Mutation_p.E231K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	220					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAAATACGATGAAGAAACTAC	0.378																																					p.E231K		.											.	CUX1-160	0			c.G691A						.						116.0	111.0	113.0					7																	101758537		2203	4300	6503	SO:0001583	missense	1523	exon8			TACGATGAAGAAA	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.658G>A	7.37:g.101758537G>A	ENSP00000292535:p.Glu220Lys	120	0		153	24	NM_181500	0	0	24	26	2	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658350	0.88154	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;D;T;T;T	0.84070	0.94;0.94;0.94;1.3;0.94;0.94;-1.8;0.94;0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	L	0.60455	1.87	0.58432	D	0.999999	P;D;D;D;D;P;D	0.89917	0.929;0.997;0.982;1.0;1.0;0.825;0.998	P;D;D;D;D;P;D	0.85130	0.591;0.98;0.952;0.989;0.997;0.518;0.991	D	0.89438	0.3721	10	0.54805	T	0.06	-25.9141	20.2228	0.98330	0.0:0.0:1.0:0.0	.	194;220;185;215;231;231;231	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	231;215;231;185;231;220;220;220;220;220	ENSP00000292538:E231K;ENSP00000449371:E215K;ENSP00000353401:E231K;ENSP00000409745:E185K;ENSP00000414091:E231K;ENSP00000292535:E220K;ENSP00000446630:E220K;ENSP00000447373:E220K;ENSP00000450125:E220K;ENSP00000451558:E220K	ENSP00000292535:E220K	E	+	1	0	CUX1	101545257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAA	.		0.378	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
ASIC3	9311	broad.mit.edu	37	7	150746080	150746080	+	Silent	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:150746080C>A	ENST00000349064.5	+	1	306	c.108C>A	c.(106-108)ggC>ggA	p.G36G	ASIC3_ENST00000357922.4_Silent_p.G36G|ASIC3_ENST00000297512.8_Silent_p.G36G	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	36					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCGGGCCAGGCAGCCTGAGCC	0.697																																					p.G36G		.											.	.	0			c.C108A						.						39.0	41.0	40.0					7																	150746080		2202	4298	6500	SO:0001819	synonymous_variant	9311	exon1			GCCAGGCAGCCTG	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.108C>A	7.37:g.150746080C>A		18	0		89	13	NM_020322	0	0	0	0	0	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																			.		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769	
PRKAG2	51422	ucsc.edu;bcgsc.ca	37	7	151261307	151261307	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:151261307G>T	ENST00000287878.4	-	14	1945	c.1441C>A	c.(1441-1443)Ctt>Att	p.L481I	PRKAG2_ENST00000418337.2_Missense_Mutation_p.L240I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L437I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L356I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L357I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	481	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCAGCAGCAAGATTCTGTAAT	0.373																																					p.L481I		.											.	PRKAG2-658	0			c.C1441A						.						152.0	140.0	145.0					7																	151261307		2203	4300	6503	SO:0001583	missense	51422	exon14			CAGCAAGATTCTG	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1441C>A	7.37:g.151261307G>T	ENSP00000287878:p.Leu481Ile	138	3		164	82	NM_016203	0	0	0	0	0	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187403	0.78789	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84	5.77	5.77	0.91146	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.71920	2.185	0.80722	D	1	B;D;B	0.69078	0.395;0.997;0.373	P;D;P	0.65987	0.764;0.94;0.612	D	0.94619	0.7811	10	0.62326	D	0.03	.	18.9796	0.92751	0.0:0.0:1.0:0.0	.	356;14;481	B7Z6X8;Q5H9N7;Q9UGJ0	.;.;AAKG2_HUMAN	I	240;481;357;356;437	ENSP00000387386:L240I;ENSP00000287878:L481I;ENSP00000419577:L357I;ENSP00000406544:L356I;ENSP00000376549:L437I	ENSP00000287878:L481I	L	-	1	0	PRKAG2	150892240	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.060000	0.64312	2.723000	0.93209	0.655000	0.94253	CTT	.		0.373	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
CLDN23	137075	hgsc.bcm.edu	37	8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	rs12548737	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5.0	8.0	7.0		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	0	0		9	9	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
SLC35G5	83650	bcgsc.ca	37	8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	rs76944947	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																					p.W103R		.											.	.	1	Substitution - Missense(1)	pancreas(1)	c.T307C						.						216.0	216.0	216.0					8																	11188922		2203	4300	6503	SO:0001583	missense	83650	exon1			CGAGGCTGGGCCT	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg	207	3		194	15	NM_054028	0	0	0	0	0	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	T|0.975;C|0.025		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
XPO7	23039	bcgsc.ca	37	8	21846586	21846586	+	Silent	SNP	G	G	C	rs2306646	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:21846586G>C	ENST00000252512.9	+	16	1960	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	XPO7_ENST00000433566.4_Silent_p.L621L|XPO7_ENST00000434536.1_Silent_p.L629L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	620					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCAATGACCTGTCCATTGGAT	0.438													C|||	2900	0.579073	0.764	0.4352	5008	,	,		18527	0.5238		0.6014	False		,,,				2504	0.4652				p.L620L		.											.	XPO7-273	0			c.G1860C						.	C		2808,1032		1041,726,153	97.0	104.0	102.0		1860	2.0	1.0	8	dbSNP_100	102	4557,3707		1263,2031,838	no	coding-synonymous	XPO7	NM_015024.4		2304,2757,991	CC,CG,GG		44.8572,26.875,39.1523		620/1088	21846586	7365,4739	1920	4132	6052	SO:0001819	synonymous_variant	23039	exon16			TGACCTGTCCATT	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1860G>C	8.37:g.21846586G>C		125	0		125	6	NM_015024	0	0	0	0	0	O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	CCDS47818.1																																																																																			G|0.404;C|0.596		0.438	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	
XPO7	23039	bcgsc.ca	37	8	21862551	21862551	+	Silent	SNP	A	A	G	rs1058486	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:21862551A>G	ENST00000252512.9	+	28	3316	c.3216A>G	c.(3214-3216)tcA>tcG	p.S1072S	XPO7_ENST00000433566.4_Silent_p.S1073S|XPO7_ENST00000434536.1_Silent_p.S1081S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	1072					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCAACGACTCAATGAAGAATT	0.522													G|||	2894	0.577875	0.7632	0.4352	5008	,	,		19393	0.5268		0.5994	False		,,,				2504	0.4591				p.S1072S		.											.	XPO7-273	0			c.A3216G						.	G		2957,1095		1097,763,166	150.0	151.0	151.0		3216	-1.1	1.0	8	dbSNP_86	151	4638,3738		1290,2058,840	no	coding-synonymous	XPO7	NM_015024.4		2387,2821,1006	GG,GA,AA		44.6275,27.0237,38.888		1072/1088	21862551	7595,4833	2026	4188	6214	SO:0001819	synonymous_variant	23039	exon28			CGACTCAATGAAG	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.3216A>G	8.37:g.21862551A>G		120	2		109	7	NM_015024	0	0	25	25	0	O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	CCDS47818.1																																																																																			A|0.407;G|0.593		0.522	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	
PLAT	5327	broad.mit.edu	37	8	42044953	42044953	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:42044953C>A	ENST00000220809.4	-	6	758	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	PLAT_ENST00000429089.2_Missense_Mutation_p.A168S|PLAT_ENST00000270189.6_Missense_Mutation_p.A168S|PLAT_ENST00000352041.3_Missense_Mutation_p.A122S|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	168	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	AGCCTGATGGCGTCTGGCCTC	0.637																																					p.A168S		.											.	PLAT-226	0			c.G502T						.						44.0	44.0	44.0					8																	42044953		2203	4300	6503	SO:0001583	missense	5327	exon6			TGATGGCGTCTGG		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.502G>T	8.37:g.42044953C>A	ENSP00000220809:p.Ala168Ser	19	0		28	4	NM_000930	0	0	1	1	0	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925585	0.73213	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	M	0.70275	2.135	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.99	D;D;D	0.73380	0.98;0.957;0.975	T	0.79524	-0.1768	10	0.42905	T	0.14	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	168;122;168	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	S	168;168;168;122;168	ENSP00000270189:A168S;ENSP00000392045:A168S;ENSP00000220809:A168S;ENSP00000270188:A122S;ENSP00000428797:A168S	ENSP00000220809:A168S	A	-	1	0	PLAT	42164110	0.999000	0.42202	0.642000	0.29436	0.022000	0.10575	4.157000	0.58144	2.824000	0.97209	0.655000	0.94253	GCC	.		0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
OPRK1	4986	hgsc.bcm.edu	37	8	54163562	54163562	+	Silent	SNP	C	C	A	rs1051660	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6.0	9.0	8.0		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.36G>T	8.37:g.54163562C>A		0	0		8	8	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
PLEC	5339	hgsc.bcm.edu	37	8	144999417	144999417	+	Silent	SNP	C	C	T	rs55836855	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000357649.2_Silent_p.A1564A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	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						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6.0	7.0	7.0		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	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	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		0	0		6	4	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|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SCRT1	83482	hgsc.bcm.edu	37	8	145557497	145557497	+	Missense_Mutation	SNP	A	A	C	rs7013127	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:145557497A>C	ENST00000332135.4	-	2	508	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	133			S -> A (in dbSNP:rs7013127). {ECO:0000269|Ref.2}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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)			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGCGGCAGAGCCGGCATTG	0.776													c|||	4719	0.942292	0.9418	0.9568	5008	,	,		3920	0.9921		0.8956	False		,,,				2504	0.9294				p.S133A		.											.	.	0			c.T397G						.						1.0	1.0	1.0					8																	145557497		634	1472	2106	SO:0001583	missense	83482	exon2			CGGCAGAGCCGGC	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.397T>G	8.37:g.145557497A>C	ENSP00000331692:p.Ser133Ala	0	0		6	6	NM_031309	0	0	0	0	0	A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	CCDS6421.1	1975	0.9043040293040293	396	0.8048780487804879	339	0.93646408839779	552	0.965034965034965	688	0.9076517150395779	c	0.007	-1.995963	0.00435	.	.	ENSG00000170616	ENST00000332135	T	0.06933	3.24	0.926	-0.0566	0.13805	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.05525	T	0.97	5.8842	6.2142	0.20646	0.3034:0.6966:0.0:0.0	rs7013127	133	Q9BWW7	SCRT1_HUMAN	A	133	ENSP00000331692:S133A	ENSP00000331692:S133A	S	-	1	0	SCRT1	145528305	.	.	0.675000	0.29917	0.381000	0.30169	.	.	-1.712000	0.01393	-3.289000	0.00047	TCT	A|0.096;C|0.904		0.776	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309	
KLF4	9314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	110251263	110251293	+	Frame_Shift_Del	DEL	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	-	rs143360314		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:110251263_110251293delGACGCGAACGTGGAGAAAGATGGGAGCAGCG	ENST00000374672.4	-	2	517_547	c.44_74delCGCTGCTCCCATCTTTCTCCACGTTCGCGTC	c.(43-75)gcgctgctcccatctttctccacgttcgcgtctfs	p.ALLPSFSTFAS15fs		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	15					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGCCGGGCCAGACGCGAACGTGGAGAAAGATGGGAGCAGCGCGTCGCTGAC	0.667																																					p.15_25del		.											.	KLF4-651	0			c.44_74del						.																																			SO:0001589	frameshift_variant	9314	exon2			GGGCCAGACGCGA	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.44_74delCGCTGCTCCCATCTTTCTCCACGTTCGCGTC	9.37:g.110251263_110251293delGACGCGAACGTGGAGAAAGATGGGAGCAGCG	ENSP00000363804:p.Ala15fs	247	0		171	11	NM_004235	0	0	0	0	0	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Frame_Shift_Del	DEL	ENST00000374672.4	37	CCDS6770.2																																																																																			.		0.667	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235	
EPB41L4B	54566	hgsc.bcm.edu	37	9	112082492	112082492	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:112082492C>A	ENST00000374566.3	-	1	752	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G79C	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	79					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGCGGCGCCGGCGGCGGAG	0.771																																					p.G79C		.											.	EPB41L4B-92	0			c.G235T						.						3.0	4.0	4.0					9																	112082492		1635	3597	5232	SO:0001583	missense	54566	exon1			CGGCGCCGGCGGC	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.235G>T	9.37:g.112082492C>A	ENSP00000363694:p.Gly79Cys	1	0		57	47	NM_019114	0	0	0	0	0	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.576689	0.45902	.	.	ENSG00000095203	ENST00000374566;ENST00000374557	D;D	0.84370	-1.82;-1.84	2.94	2.94	0.34122	.	.	.	.	.	D	0.87014	0.6072	L	0.32530	0.975	0.36954	D	0.893025	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	D	0.88996	0.3418	9	0.62326	D	0.03	.	12.069	0.53605	0.0:1.0:0.0:0.0	.	79;79	Q9H329-2;Q9H329	.;E41LB_HUMAN	C	79	ENSP00000363694:G79C;ENSP00000363685:G79C	ENSP00000363685:G79C	G	-	1	0	EPB41L4B	111122313	0.998000	0.40836	0.915000	0.36163	0.000000	0.00434	6.721000	0.74728	1.467000	0.48044	0.000000	0.15137	GGC	.		0.771	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
ENTPD8	377841	broad.mit.edu	37	9	140329710	140329710	+	Missense_Mutation	SNP	G	G	T	rs202080880		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:140329710G>T	ENST00000472938.1	-	8	1258	c.1242C>A	c.(1240-1242)caC>caA	p.H414Q	ENTPD8_ENST00000344119.2_Missense_Mutation_p.H377Q|ENTPD8_ENST00000371506.2_Missense_Mutation_p.H414Q			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	414					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CGTAGCCCTCGTGCAGGAGGG	0.692																																					p.H414Q		.											.	ENTPD8-91	0			c.C1242A						.						49.0	46.0	47.0					9																	140329710		2200	4299	6499	SO:0001583	missense	377841	exon9			GCCCTCGTGCAGG	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1242C>A	9.37:g.140329710G>T	ENSP00000420531:p.His414Gln	76	0		107	4	NM_001033113	0	0	0	0	0	A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.603529	0.00849	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12774	2.65;2.65;2.65	4.32	-8.64	0.00874	.	3.193890	0.01153	N	0.006470	T	0.11495	0.0280	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.0;0.004	T	0.23332	-1.0191	10	0.48119	T	0.1	-0.9913	2.772	0.05337	0.2068:0.4396:0.2152:0.1383	.	377;414	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	Q	377;414;414	ENSP00000344089:H377Q;ENSP00000360561:H414Q;ENSP00000420531:H414Q	ENSP00000344089:H377Q	H	-	3	2	ENTPD8	139449531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.097000	0.00014	-5.921000	0.00008	-3.025000	0.00073	CAC	G|0.999;A|0.000		0.692	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585	
NONO	4841	bcgsc.ca	37	X	70517791	70517791	+	Intron	SNP	A	A	G			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chrX:70517791A>G	ENST00000276079.8	+	9	1336				NONO_ENST00000373841.1_Intron|NONO_ENST00000535149.1_Intron|NONO_ENST00000490044.1_Intron|NONO_ENST00000373856.3_Intron	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTGATGCGGTATATCTCCCAT	0.517			T	TFE3	papillary renal cancer																																.		.		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	.	.	0			.						.						81.0	59.0	67.0					X																	70517791		2203	4300	6503	SO:0001627	intron_variant	618	.			TGCGGTATATCTC	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1131+3A>G	X.37:g.70517791A>G		258	3		288	224	.	0	0	1	63	62	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	SNP	ENST00000276079.8	37	CCDS14410.1																																																																																			.		0.517	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
TMEM247	388946	hgsc.bcm.edu	37	2	46707846	46707847	+	In_Frame_Ins	INS	-	-	GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENST00000434431.1	+	2	420_421	c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	c.(421-423)gag>GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGgag	p.141_141E>ERQHEVVMEQLQRE		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGCTGCAGCGGGAGCGGCAGCA	0.663																																					p.R140delinsRERQHEVVMEQLQR		.											.	.	0			c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG						.																																			SO:0001652	inframe_insertion	388946	exon2			GCAGCGGGAGCGG		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENSP00000388684:p.ArgGlnHisGluValValMetGluGlnLeuGlnArgGlu141dup	89	0		178	0	NM_001145051	0	0	0	0	0		In_Frame_Ins	INS	ENST00000434431.1	37	CCDS56117.1																																																																																			.		0.663	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		.											.	ATXN1-93	0			c.678_679insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	12	0		55	0	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																					p.G49delinsGGGG		.											.	.	3	Insertion - In frame(2)|Deletion - In frame(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)	c.147_148insGGCGGCGGC						.																																			SO:0001652	inframe_insertion	286343	exon1			TGGTGGTGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup	17	0		26	11	NM_203403	0	0	0	0	0	Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	CCDS6473.1																																																																																			.		0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
C14orf23	387978	bcgsc.ca	37	14	29261244	29261245	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr14:29261244_29261245GG>TT	ENST00000399387.4	+	3	385_386	c.281_282GG>TT	c.(280-282)gGG>gTT	p.G94V	C14orf23_ENST00000548213.1_Intron|C14orf23_ENST00000550266.1_Intron					chromosome 14 open reading frame 23											central_nervous_system(1)	1						AGGCATTTGGGGAAGAACAACG	0.366																																					p.G94V		.											.	C14orf23-23	0			.						.																																			SO:0001583	missense	387978	.			TTTGGGGAAGAAC			14q11.2	2013-01-15			ENSG00000186960	ENSG00000186960			19828	other	unknown							Standard	NR_026731		Approved		uc001wqf.3	Q86U37	OTTHUMG00000029410	Exception_encountered	14.37:g.29261244_29261245delinsTT	ENSP00000382318:p.Gly94Val	148	0		206	24	.	0	0	0	0	0		Missense_Mutation	DNP	ENST00000399387.4	37																																																																																				.		0.366	C14orf23-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000134019.2	NR_026731	
