#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
CELF2	10659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	ENST00000379261.4	+	11	1185	c.1093G>C	c.(1093-1095)Gga>Cga	p.G365R	CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000608830.1_Missense_Mutation_p.G345R|CELF2_ENST00000315874.4_Missense_Mutation_p.G347R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R|CELF2_ENST00000609692.1_Missense_Mutation_p.G345R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517																																																0													123.0	119.0	121.0					10																	11363187		2047	4209	6256	SO:0001583	missense	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1093G>C	10.37:g.11363187G>C	ENSP00000368563:p.Gly365Arg		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046072	0.93740	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.33	5.33	0.75918	.	0.152854	0.64402	D	0.000014	D	0.87803	0.6269	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.996;0.997;1.0	D	0.85210	0.1020	10	0.31617	T	0.26	-7.181	19.2874	0.94084	0.0:0.0:1.0:0.0	.	353;371;366;378;378;365	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	R	365;365;378;378;347;345;347;347;355;347;260;171	ENSP00000368563:G365R;ENSP00000406451:G365R;ENSP00000389951:G378R;ENSP00000443926:G378R;ENSP00000382743:G347R;ENSP00000404834:G345R;ENSP00000315328:G347R;ENSP00000346426:G347R;ENSP00000388530:G347R;ENSP00000438884:G260R	ENSP00000315328:G347R	G	+	1	0	CELF2	11403193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.789000	0.95967	0.558000	0.71614	GGA		0.517	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				40	86	40	86
MUC2	4583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	ENST00000441003.2	+	18	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	761					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701																																																0													17.0	20.0	19.0					11																	1083749		2055	4176	6231	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2281G>A	11.37:g.1083749G>A	ENSP00000415183:p.Ala761Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377745	0.24944	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.21734	1.99;1.99	4.07	-4.67	0.03319	.	1.527920	0.04298	U	0.346748	T	0.23611	0.0571	L	0.55213	1.73	0.09310	N	1	P	0.42203	0.773	B	0.44108	0.441	T	0.43925	-0.9361	10	0.42905	T	0.14	.	8.7847	0.34814	0.0:0.2298:0.1916:0.5787	.	761	E7EUV1	.	T	761	ENSP00000415183:A761T;ENSP00000351956:A761T	ENSP00000351956:A761T	A	+	1	0	MUC2	1073749	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.500000	0.06405	-0.640000	0.05495	0.195000	0.17529	GCC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	28	12	28
CIT	11113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	ENST00000261833.7	-	34	4448	c.4396A>G	c.(4396-4398)Aag>Gag	p.K1466E	CIT_ENST00000392521.2_Missense_Mutation_p.K1508E|CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1466	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443																																																0													236.0	232.0	233.0					12																	120151065		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4396A>G	12.37:g.120151065T>C	ENSP00000261833:p.Lys1466Glu		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620066	0.87460	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.67345	-0.23;-0.26	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.63843	1.955	0.58432	D	0.999997	D;P;P	0.62365	0.991;0.888;0.925	P;B;P	0.55923	0.787;0.257;0.621	T	0.79127	-0.1931	10	0.87932	D	0	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	1508;1466;984	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	E	1508;1466	ENSP00000376306:K1508E;ENSP00000261833:K1466E	ENSP00000261833:K1466E	K	-	1	0	CIT	118635448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.185000	0.69588	0.528000	0.53228	AAG		0.443	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		131	165	131	165
WASF3	10810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	ENST00000335327.5	+	4	391	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.D71E	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	71					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408																																																0													101.0	93.0	96.0					13																	27239244		2203	4300	6503	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.213C>G	13.37:g.27239244C>G	ENSP00000335055:p.Asp71Glu		O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461566	0.26248	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.63096	-0.02;-0.02	5.64	5.64	0.86602	.	0.042673	0.85682	D	0.000000	T	0.38081	0.1027	N	0.02296	-0.605	0.80722	D	1	B;B	0.25667	0.131;0.041	B;B	0.29942	0.109;0.042	T	0.44513	-0.9323	10	0.02654	T	1	-37.7364	19.6999	0.96048	0.0:1.0:0.0:0.0	.	71;71	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	E	71	ENSP00000354325:D71E;ENSP00000335055:D71E	ENSP00000335055:D71E	D	+	3	2	WASF3	26137244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.310000	0.43708	2.659000	0.90383	0.650000	0.86243	GAC		0.408	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			15	43	15	43
OLFM4	10562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	53624246	53624246	+	Silent	SNP	G	G	A	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	ENST00000219022.2	+	5	951	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	291	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448																																																0								G		0,4406		0,0,2203	111.0	100.0	104.0		873	-11.8	0.3	13	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OLFM4	NM_006418.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		291/511	53624246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.873G>A	13.37:g.53624246G>A			O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		49	62	49	62
UGGT2	55757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	96592232	96592232	+	Silent	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	ENST00000376747.3	-	16	1861	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358																																																0													95.0	94.0	94.0					13																	96592232		2203	4299	6502	SO:0001819	synonymous_variant	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1791T>C	13.37:g.96592232A>G			A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	CCDS9480.1																																																																																				0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		15	28	15	28
METTL17	64745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	21458174	21458174	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:21458174C>T	ENST00000339374.6	+	1	246	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	METTL17_ENST00000556670.2_Silent_p.L5L|METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	5					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGGCGGCACTGAAGTGTCT	0.617																																																0													49.0	56.0	53.0					14																	21458174		2203	4300	6503	SO:0001819	synonymous_variant	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.13C>T	14.37:g.21458174C>T			Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	CCDS9562.1																																																																																				0.617	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		52	33	52	33
PELI2	57161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	ENST00000267460.4	+	6	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	378					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532																																																0													161.0	141.0	148.0					14																	56763754		2203	4300	6503	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1133C>G	14.37:g.56763754C>G	ENSP00000267460:p.Ala378Gly		B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238166	0.79800	.	.	ENSG00000139946	ENST00000267460	T	0.48522	0.81	5.83	5.83	0.93111	.	0.196791	0.53938	D	0.000056	T	0.58878	0.2153	M	0.78637	2.42	0.53005	D	0.999966	B	0.31413	0.322	B	0.37267	0.245	T	0.61327	-0.7085	10	0.87932	D	0	-23.1154	20.1155	0.97930	0.0:1.0:0.0:0.0	.	378	Q9HAT8	PELI2_HUMAN	G	378	ENSP00000267460:A378G	ENSP00000267460:A378G	A	+	2	0	PELI2	55833507	0.998000	0.40836	0.944000	0.38274	0.972000	0.66771	3.842000	0.55858	2.762000	0.94881	0.555000	0.69702	GCA		0.532	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			42	95	42	95
AP4E1	23431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	ENST00000261842.5	+	18	2909	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	935					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308																																																0													54.0	60.0	58.0					15																	51289979		2196	4294	6490	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2803T>C	15.37:g.51289979T>C	ENSP00000261842:p.Trp935Arg		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087421	0.55968	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.2	5.2	0.72013	Coatomer, beta subunit, C-terminal (1);	0.320834	0.35903	N	0.002918	T	0.34861	0.0912	L	0.59436	1.845	0.46499	D	0.999078	P	0.42518	0.782	P	0.46585	0.521	T	0.11060	-1.0603	10	0.54805	T	0.06	0.3974	14.2599	0.66078	0.0:0.0:0.0:1.0	.	935	Q9UPM8	AP4E1_HUMAN	R	935	ENSP00000261842:W935R	ENSP00000261842:W935R	W	+	1	0	AP4E1	49077271	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.458000	0.66679	1.966000	0.57179	0.383000	0.25322	TGG		0.308	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			5	23	5	23
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	ENST00000443617.2	-	58	11393	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3769					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCATGAGCCCACCTAGTCC	0.418																																																0													65.0	62.0	63.0					15																	63935628		1909	4123	6032	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11306G>A	15.37:g.63935628C>T	ENSP00000390158:p.Gly3769Glu		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059150	0.93846	.	.	ENSG00000103657	ENST00000443617	T	0.74209	-0.82	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.84206	0.5421	M	0.69248	2.105	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	D	0.86109	0.1561	10	0.87932	D	0	.	18.7053	0.91635	0.0:1.0:0.0:0.0	.	3769	Q15751	HERC1_HUMAN	E	3769	ENSP00000390158:G3769E	ENSP00000390158:G3769E	G	-	2	0	HERC1	61722681	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	7.776000	0.85560	2.500000	0.84329	0.563000	0.77884	GGG		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	1	20	1
THOC6	79228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	ENST00000326266.8	+	2	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	32					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567																																																0													121.0	112.0	115.0					16																	3075763		2198	4300	6498	SO:0001583	missense	79228			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.94G>A	16.37:g.3075763G>A	ENSP00000326531:p.Val32Ile		B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340960	0.41498	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.59638	0.25;1.6	5.31	2.15	0.27550	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.243493	0.40222	N	0.001142	T	0.41858	0.1177	L	0.42245	1.32	0.30454	N	0.774991	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.29912	-0.9996	10	0.35671	T	0.21	0.0081	3.7972	0.08744	0.19:0.0:0.4801:0.3299	.	32;32	Q86W42-3;Q86W42	.;THOC6_HUMAN	I	32	ENSP00000326531:V32I;ENSP00000253952:V32I	ENSP00000253952:V32I	V	+	1	0	THOC6	3015764	1.000000	0.71417	0.080000	0.20451	0.974000	0.67602	2.674000	0.46867	0.178000	0.19917	0.561000	0.74099	GTC		0.567	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		25	106	25	106
CCP110	9738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	19547384	19547384	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:19547384G>A	ENST00000381396.5	+	4	640	c.393G>A	c.(391-393)acG>acA	p.T131T	CCP110_ENST00000396208.2_Silent_p.T131T|CCP110_ENST00000396212.2_Silent_p.T131T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	131	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCCATACGGAACACTCTA	0.388																																																0													75.0	75.0	75.0					16																	19547384		2197	4300	6497	SO:0001819	synonymous_variant	9738			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.393G>A	16.37:g.19547384G>A			B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	CCDS55992.1																																																																																				0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		34	24	34	24
RLTPR	146206	hgsc.bcm.edu;broad.mit.edu	37	16	67690171	67690171	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	ENST00000334583.6	+	34	4111	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_ENST00000545661.1_Silent_p.S1225S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1261					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582																																																0													139.0	138.0	138.0					16																	67690171		2042	4188	6230	SO:0001819	synonymous_variant	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3783G>A	16.37:g.67690171G>A			B8X2Z3	Silent	SNP	ENST00000334583.6	37	CCDS45513.1																																																																																				0.582	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		11	183	11	183
MLKL	197259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	74725174	74725174	+	Splice_Site	SNP	C	C	T	rs144019045		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18916	0.0		0.0	False		,,,				2504	0.0															1	Unknown(1)	lung(1)						C	,	1,4395	2.1+/-5.4	0,1,2197	226.0	230.0	228.0		,	4.2	0.9	16	dbSNP_134	228	1,8599	1.2+/-3.3	0,1,4299	no	intron,splice-5	MLKL	NM_001142497.1,NM_152649.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	,	74725174	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.722+1G>A	16.37:g.74725174C>T				Splice_Site	SNP	ENST00000308807.7	37	CCDS32487.1																																																																																				0.438	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Intron	142	172	142	172
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	12655844	12655844	+	Silent	SNP	G	G	A	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	ENST00000343344.4	+	10	1239	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000425538.1_Silent_p.P413P|AC005358.1_ENST00000609971.1_Silent_p.P317P|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	lung(2)						G	,,	12,4394	19.1+/-41.9	0,12,2191	111.0	103.0	106.0		1239,951,1239	-7.7	0.3	17	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,	413/987,317/685,413/939	12655844	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1239G>A	17.37:g.12655844G>A			Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		56	76	56	76
TAOK1	57551	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	ENST00000261716.3	+	17	2644	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	709					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398																																																0													113.0	107.0	109.0					17																	27849514		2203	4300	6503	SO:0001587	stop_gained	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2125C>T	17.37:g.27849514C>T	ENSP00000261716:p.Arg709*		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	45	11.633693	0.99585	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.81	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1714	0.72875	0.2571:0.7428:0.0:0.0	.	.	.	.	X	709	.	ENSP00000261716:R709X	R	+	1	2	TAOK1	24873640	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.055000	0.71103	1.441000	0.47550	-0.195000	0.12781	CGA		0.398	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		54	78	54	78
SYNRG	11276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	ENST00000339208.6	-	14	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E|SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	677	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433																																																0													53.0	53.0	53.0					17																	35913795		2203	4300	6503	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2030G>A	17.37:g.35913795C>T	ENSP00000343610:p.Gly677Glu		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070651	0.55539	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.54675	1.26;0.56;0.66;0.69	6.08	6.08	0.98989	.	0.110651	0.64402	D	0.000007	T	0.67933	0.2946	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	0.965;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.81914	0.69;0.995;0.995;0.995;0.992;0.992	T	0.68682	-0.5344	10	0.72032	D	0.01	-11.0266	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	516;599;599;599;677;677	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	E	677;516;677;599;599	ENSP00000005279:G677E;ENSP00000315722:G677E;ENSP00000424893:G599E;ENSP00000377903:G599E	ENSP00000343610:G516E	G	-	2	0	SYNRG	32987908	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.474000	0.60203	2.894000	0.99253	0.655000	0.94253	GGG		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		39	64	39	64
KRT38	8687	hgsc.bcm.edu;broad.mit.edu	37	17	39595476	39595476	+	Silent	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	ENST00000246646.3	-	3	710	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	237	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657																																																0													54.0	49.0	51.0					17																	39595476		2203	4300	6503	SO:0001819	synonymous_variant	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.711C>G	17.37:g.39595476G>C			A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.657	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		31	43	31	43
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	ENST00000397910.4	-	1	7942	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2580	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGGGTGTAGTTGGGGT	0.483																																																0													176.0	172.0	173.0					19																	9084076		1976	4165	6141	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7739C>A	19.37:g.9084076G>T	ENSP00000381008:p.Thr2580Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.542	-0.306094	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2580	B5ME49	.	K	2580	ENSP00000381008:T2580K	ENSP00000381008:T2580K	T	-	2	0	MUC16	8945076	0.082000	0.21442	0.120000	0.21714	0.123000	0.20343	0.037000	0.13840	0.300000	0.22699	0.305000	0.20034	ACA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	136	16	136
CRTC1	23373	hgsc.bcm.edu;broad.mit.edu	37	19	18879357	18879357	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	ENST00000321949.8	+	10	1100	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	CRTC1_ENST00000594658.1_Silent_p.A317A|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Silent_p.A374A	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751																																																0													6.0	8.0	7.0					19																	18879357		1998	3958	5956	SO:0001819	synonymous_variant	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1074G>A	19.37:g.18879357G>A				Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.751	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		9	19	9	19
ST3GAL3	6487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T	rs200149990		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	ENST00000361392.4	+	7	616	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R216C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000531451.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537																																																0													118.0	101.0	107.0					1																	44363948		2203	4300	6503	SO:0001583	missense	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.439C>T	1.37:g.44363948C>T	ENSP00000355341:p.Arg147Cys		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126544	0.77549	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.57	4.57	0.56435	.	0.116434	0.64402	D	0.000012	T	0.48003	0.1476	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.994;0.996;0.999;0.995;0.996;0.999;0.997;0.989;0.999;0.997;0.999;0.995;0.999;0.997	P;P;P;D;P;P;P;P;P;P;P;P;P;P	0.71870	0.799;0.784;0.862;0.975;0.784;0.854;0.707;0.827;0.886;0.707;0.827;0.806;0.827;0.901	T	0.48514	-0.9029	10	0.56958	D	0.05	.	17.3035	0.87188	0.0:1.0:0.0:0.0	.	147;100;131;146;131;146;116;147;185;131;201;147;216;162	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	147;131;216;201;185;116;147;131;162;147;216;146;146;147;201;185;131;131;147;116	ENSP00000355341:R147C;ENSP00000354748:R131C;ENSP00000262915:R216C;ENSP00000361450:R201C;ENSP00000316999:R185C;ENSP00000361449:R116C;ENSP00000330463:R147C;ENSP00000335633:R131C;ENSP00000317192:R162C;ENSP00000361444:R147C;ENSP00000354657:R216C;ENSP00000361442:R146C;ENSP00000361441:R146C;ENSP00000361440:R147C;ENSP00000361443:R201C;ENSP00000361447:R185C;ENSP00000434876:R131C;ENSP00000432682:R131C;ENSP00000432965:R147C;ENSP00000329755:R116C	ENSP00000262915:R216C	R	+	1	0	ST3GAL3	44136535	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.139000	0.42149	2.260000	0.74910	0.655000	0.94253	CGC		0.537	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		57	12	57	12
CFHR3	10878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	ENST00000367425.4	+	2	181	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFHR3_ENST00000471440.2_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	30	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GACATTAAACATGGAGGTCTA	0.289																																																0													51.0	57.0	55.0					1																	196748322		1904	4124	6028	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.89A>C	1.37:g.196748322A>C	ENSP00000356395:p.His30Pro		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.919149	0.33908	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.67523	-0.27;-0.27;-0.27	2.31	2.31	0.28768	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.80319	0.4601	M	0.85945	2.785	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.951	T	0.65668	-0.6112	9	0.72032	D	0.01	.	6.6031	0.22710	1.0:0.0:0.0:0.0	.	30;30;30	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	P	30	ENSP00000356395:H30P;ENSP00000436258:H30P;ENSP00000375845:H30P	ENSP00000356395:H30P	H	+	2	0	CFHR3	195014945	0.992000	0.36948	0.331000	0.25455	0.022000	0.10575	2.819000	0.48049	1.334000	0.45468	0.155000	0.16302	CAT		0.289	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		19	38	19	38
COX4I2	84701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	30231298	30231298	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	ENST00000376075.3	+	4	414	c.339T>C	c.(337-339)atT>atC	p.I113I	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	113					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562																																																0													219.0	176.0	191.0					20																	30231298		2203	4300	6503	SO:0001819	synonymous_variant	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.339T>C	20.37:g.30231298T>C			Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	CCDS13187.1																																																																																				0.562	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		30	103	30	103
HEATR5B	54497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	ENST00000233099.5	-	19	2827	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	911						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388																																																0													165.0	143.0	151.0					2																	37268400		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2732G>A	2.37:g.37268400C>T	ENSP00000233099:p.Gly911Asp		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237290	0.95240	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.05447	3.44;3.44	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33343	-0.9872	10	0.72032	D	0.01	-17.0715	19.3907	0.94581	0.0:1.0:0.0:0.0	.	911	Q9P2D3	HTR5B_HUMAN	D	911	ENSP00000233099:G911D;ENSP00000346531:G911D	ENSP00000233099:G911D	G	-	2	0	HEATR5B	37121904	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	7.729000	0.84864	2.569000	0.86673	0.655000	0.94253	GGT		0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		26	77	26	77
REG1B	5968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	ENST00000305089.3	-	5	450	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542																																																0													94.0	85.0	88.0					2																	79312681		2203	4300	6503	SO:0001583	missense	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.370T>C	2.37:g.79312681A>G	ENSP00000303206:p.Trp124Arg			Missense_Mutation	SNP	ENST00000305089.3	37	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579685	0.65992	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.14266	2.52;2.52	3.59	2.38	0.29361	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.211136	0.24204	N	0.040591	T	0.45637	0.1352	H	0.99238	4.48	0.35630	D	0.81014	P	0.51933	0.949	P	0.57548	0.823	T	0.59478	-0.7447	10	0.87932	D	0	.	6.0382	0.19720	0.7706:0.0:0.0:0.2294	.	124	P48304	REG1B_HUMAN	R	75;124	ENSP00000387410:W75R;ENSP00000303206:W124R	ENSP00000303206:W124R	W	-	1	0	REG1B	79166189	0.995000	0.38212	0.756000	0.31282	0.541000	0.35023	3.149000	0.50655	0.520000	0.28426	0.402000	0.26972	TGG		0.542	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		33	64	33	64
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	ENST00000263816.3	-	22	3551	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1089	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAGTCGTTGCGTTTGTCACA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20464	0.0		0.001	False		,,,				2504	0.0															0								C	HIS/ARG	0,4406		0,0,2203	219.0	172.0	188.0		3266	-1.3	0.0	2	dbSNP_134	188	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP2	NM_004525.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1089/4656	170101367	2,13004	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3266G>A	2.37:g.170101367C>T	ENSP00000263816:p.Arg1089His		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734707	0.15574	0.0	2.33E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95307	-3.67;-3.67	5.95	-1.3	0.09259	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.561822	0.21430	N	0.074680	D	0.83631	0.5296	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.71523	-0.4567	10	0.31617	T	0.26	.	4.5438	0.12071	0.2158:0.1845:0.0:0.5997	.	952;1089	E9PC35;P98164	.;LRP2_HUMAN	H	1089;952	ENSP00000263816:R1089H;ENSP00000409813:R952H	ENSP00000263816:R1089H	R	-	2	0	LRP2	169809613	1.000000	0.71417	0.000000	0.03702	0.062000	0.15995	5.097000	0.64542	-0.370000	0.08016	-1.223000	0.01593	CGC		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		77	120	77	120
NCKAP1	10787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	ENST00000361354.4	-	14	1771	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M473V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	467					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279																																																0													53.0	55.0	55.0					2																	183843586		2202	4296	6498	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1399A>G	2.37:g.183843586T>C	ENSP00000355348:p.Met467Val		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216623	0.58452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.27720	1.65;1.65	5.44	5.44	0.79542	.	0.035510	0.85682	D	0.000000	T	0.30262	0.0759	L	0.43152	1.355	0.80722	D	1	B;B	0.14012	0.009;0.007	B;B	0.18871	0.023;0.013	T	0.04870	-1.0921	10	0.54805	T	0.06	-6.2624	15.7939	0.78394	0.0:0.0:0.0:1.0	.	467;473	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	467;473	ENSP00000355348:M467V;ENSP00000354251:M473V	ENSP00000354251:M473V	M	-	1	0	NCKAP1	183551831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.206000	0.72154	2.174000	0.68829	0.528000	0.53228	ATG		0.279	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		14	27	14	27
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	47	32	47
EPHA3	2042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	ENST00000336596.2	+	3	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	249	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.E249K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	skin(1)											201.0	194.0	196.0					3																	89259601		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.745G>A	3.37:g.89259601G>A	ENSP00000337451:p.Glu249Lys		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909486	0.92107	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.75;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.132552	0.53938	D	0.000047	T	0.79845	0.4516	M	0.66506	2.035	0.80722	D	1	P;D	0.63880	0.902;0.993	B;P	0.53988	0.084;0.739	T	0.77953	-0.2394	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	249;249	P29320;P29320-2	EPHA3_HUMAN;.	K	249	ENSP00000337451:E249K;ENSP00000399926:E249K;ENSP00000419190:E249K	.	E	+	1	0	EPHA3	89342291	1.000000	0.71417	0.918000	0.36340	0.869000	0.49853	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		139	211	139	211
PVRL3	25945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	ENST00000485303.1	+	2	675	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	134	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393																																																0													125.0	122.0	123.0					3																	110831116		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.400A>G	3.37:g.110831116A>G	ENSP00000418070:p.Thr134Ala		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.08|11.08	1.532456|1.532456	0.27387|0.27387	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766|ENST00000486596	T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38|.	5.43|5.43	4.12|4.12	0.48240|0.48240	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.269112|.	0.42548|.	D|.	0.000683|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.05012|0.05012	-0.13|-0.13	0.27238|0.27238	N|N	0.959229|0.959229	B;B|.	0.26902|.	0.163;0.139|.	B;B|.	0.30105|.	0.111;0.088|.	T|T	0.11299|0.11299	-1.0593|-1.0593	10|5	0.05620|.	T|.	0.96|.	.|.	4.7437|4.7437	0.13028|0.13028	0.7705:0.0:0.2295:0.0|0.7705:0.0:0.2295:0.0	.|.	111;134|.	E9PFR0;Q9NQS3|.	.;PVRL3_HUMAN|.	A|C	87;134;134;111;119|133	ENSP00000418327:T87A;ENSP00000418070:T134A;ENSP00000321514:T134A;ENSP00000420579:T111A;ENSP00000420479:T119A|.	ENSP00000321514:T134A|.	T|Y	+|+	1|2	0|0	PVRL3|PVRL3	112313806|112313806	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.399000|1.399000	0.34566|0.34566	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.393	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		46	42	46	42
PHLDB2	90102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	ENST00000431670.2	+	14	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1050						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478																																																0													78.0	87.0	84.0					3																	111685531		2203	4300	6503	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3149C>T	3.37:g.111685531C>T	ENSP00000405405:p.Thr1050Met		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334485	0.41297	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.63	5.63	0.86233	.	0.169746	0.53938	D	0.000057	T	0.69922	0.3165	L	0.56769	1.78	0.26667	N	0.971806	P;B;B;P;P	0.43938	0.744;0.14;0.433;0.822;0.822	B;B;B;B;B	0.37650	0.074;0.056;0.109;0.255;0.255	T	0.70641	-0.4816	10	0.54805	T	0.06	.	14.3365	0.66595	0.1489:0.8511:0.0:0.0	.	169;541;1050;1007;1034	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	M	1034;1050;1007;1007;1050;1007;541	ENSP00000377500:T1034M;ENSP00000405405:T1050M;ENSP00000405292:T1007M;ENSP00000418296:T1007M;ENSP00000377502:T1050M;ENSP00000418319:T1007M;ENSP00000420303:T541M	ENSP00000377500:T1034M	T	+	2	0	PHLDB2	113168221	0.593000	0.26840	0.973000	0.42090	0.845000	0.48019	1.535000	0.36061	2.818000	0.97014	0.591000	0.81541	ACG		0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		63	47	63	47
ZNF148	7707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	ENST00000360647.4	-	8	1230	c.745C>G	c.(745-747)Cat>Gat	p.H249D	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	249					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303																																																0													113.0	115.0	114.0					3																	124953096		2203	4297	6500	SO:0001583	missense	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.745C>G	3.37:g.124953096G>C	ENSP00000353863:p.His249Asp		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812306	0.70912	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90913	0.4777	10	0.87932	D	0	-4.9575	19.1883	0.93653	0.0:0.0:1.0:0.0	.	249	Q9UQR1	ZN148_HUMAN	D	249	ENSP00000353863:H249D;ENSP00000420335:H249D;ENSP00000419322:H249D;ENSP00000420448:H249D	ENSP00000353863:H249D	H	-	1	0	ZNF148	126435786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.764000	0.94973	0.650000	0.86243	CAT		0.303	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		34	48	34	48
EGF	1950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	ENST00000265171.5	+	9	1874	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_ENST00000509793.1_Missense_Mutation_p.A435T|EGF_ENST00000503392.1_Missense_Mutation_p.A477T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	477	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAAAAGCTGTGCAGCTTCAGG	0.423																																																0													172.0	159.0	164.0					4																	110884445		2203	4300	6503	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1429G>A	4.37:g.110884445G>A	ENSP00000265171:p.Ala477Thr		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	5.912	0.352285	0.11182	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87650	-2.28;-2.2;-1.88	5.84	1.57	0.23409	Epidermal growth factor-like (1);	0.986120	0.08325	N	0.963141	T	0.69575	0.3126	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.13407	0.005;0.009;0.008	T	0.55438	-0.8141	10	0.11794	T	0.64	.	3.6732	0.08281	0.5458:0.0:0.2642:0.19	.	477;435;477	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	T	435;477;477	ENSP00000424316:A435T;ENSP00000265171:A477T;ENSP00000421384:A477T	ENSP00000265171:A477T	A	+	1	0	EGF	111103894	0.911000	0.30947	0.017000	0.16124	0.256000	0.26092	1.864000	0.39469	0.368000	0.24481	0.655000	0.94253	GCA		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			64	105	64	105
CEP72	55722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	620335	620335	+	Missense_Mutation	SNP	G	G	A	rs542279058		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20813	0.0		0.0	False		,,,				2504	0.0															0													117.0	101.0	106.0					5																	620335		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.362G>A	5.37:g.620335G>A	ENSP00000264935:p.Arg121His		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689342	0.68271	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.31247	1.5;1.5	4.81	4.81	0.61882	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.063358	0.64402	D	0.000003	T	0.69672	0.3137	H	0.97682	4.055	0.52099	D	0.99994	D	0.89917	1.0	D	0.85130	0.997	T	0.81638	-0.0842	10	0.87932	D	0	-30.8591	15.1567	0.72749	0.0:0.0:1.0:0.0	.	121	Q9P209	CEP72_HUMAN	H	121	ENSP00000264935:R121H;ENSP00000392052:R121H	ENSP00000264935:R121H	R	+	2	0	CEP72	673335	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.539000	0.73856	2.347000	0.79759	0.462000	0.41574	CGC		0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		51	93	51	93
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	ENST00000513610.1	-	28	4287	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_ENST00000427430.2_Missense_Mutation_p.G635E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000515803.1_Missense_Mutation_p.G617E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1278	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463																																																0													183.0	178.0	179.0					5																	16689996		2071	4210	6281	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3833G>A	5.37:g.16689996C>T	ENSP00000421280:p.Gly1278Glu		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120423	0.77323	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.37544	0.1007	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.94;0.995;0.983	T	0.05273	-1.0895	9	0.72032	D	0.01	.	19.036	0.92978	0.0:1.0:0.0:0.0	.	157;919;1278	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	E	1278;617;635;617;635	ENSP00000421280:G1278E;ENSP00000425051:G617E;ENSP00000274203:G635E;ENSP00000421170:G617E;ENSP00000391106:G635E	ENSP00000274203:G635E	G	-	2	0	MYO10	16742996	0.939000	0.31865	1.000000	0.80357	0.817000	0.46193	2.114000	0.41911	2.603000	0.88011	0.655000	0.94253	GGG		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	57	14	57
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	ENST00000282516.8	+	10	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	808					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428																																																0													63.0	63.0	63.0					5																	36985704		2203	4300	6503	SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2422C>T	5.37:g.36985704C>T	ENSP00000282516:p.Arg808*		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	42	9.413494	0.99164	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.99	5.99	0.97316	.	0.084417	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9809	15.2218	0.73316	0.1405:0.8595:0.0:0.0	.	.	.	.	X	808	.	ENSP00000282516:R808X	R	+	1	2	NIPBL	37021461	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.021000	0.49651	2.840000	0.97914	0.655000	0.94253	CGA		0.428	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		32	45	32	45
MAP1B	4131	hgsc.bcm.edu;broad.mit.edu	37	5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	ENST00000296755.7	+	5	6189	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1964					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473																																					Melanoma(17;367 822 11631 31730 47712)											0													64.0	69.0	67.0					5																	71495073		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5891C>G	5.37:g.71495073C>G	ENSP00000296755:p.Thr1964Ser		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083073	0.01888	.	.	ENSG00000131711	ENST00000296755	T	0.02890	4.12	4.98	1.91	0.25777	.	0.291406	0.29493	N	0.011991	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B;B	0.30727	0.292;0.009	B;B	0.36244	0.22;0.036	T	0.46034	-0.9220	10	0.54805	T	0.06	0.0267	8.2532	0.31739	0.0:0.4803:0.0:0.5197	.	1838;1964	A2BDK6;P46821	.;MAP1B_HUMAN	S	1964	ENSP00000296755:T1964S	ENSP00000296755:T1964S	T	+	2	0	MAP1B	71530829	0.000000	0.05858	0.004000	0.12327	0.334000	0.28698	-0.020000	0.12525	0.393000	0.25203	0.448000	0.29417	ACC		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	86	6	86
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu	37	5	140182696	140182696	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	ENST00000522353.2	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA3_ENST00000532566.2_Silent_p.D638D|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	638	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)			GTGCCCTGGACGAGGTGGACG	0.667																																																0													67.0	68.0	68.0					5																	140182696		2203	4299	6502	SO:0001819	synonymous_variant	56145			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.1914C>T	5.37:g.140182696C>T			O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		11	150	11	150
SPRY4	81848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	ENST00000434127.2	-	2	948	c.705G>A	c.(703-705)tgG>tgA	p.W235*	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Nonsense_Mutation_p.W258*	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	235	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of																																							0													67.0	66.0	66.0					5																	141693969		2203	4300	6503	SO:0001587	stop_gained	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.705G>A	5.37:g.141693969C>T	ENSP00000399468:p.Trp235*		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Nonsense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929834	0.97116	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8229	18.3187	0.90230	0.0:1.0:0.0:0.0	.	.	.	.	X	258;235	.	ENSP00000344967:W258X	W	-	3	0	SPRY4	141674153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.613000	0.67688	2.534000	0.85438	0.561000	0.74099	TGG		0.662	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			30	28	30	28
ABCB5	340273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353																																																0													134.0	140.0	138.0					7																	20767947		2203	4300	6503	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2736G>A	7.37:g.20767947G>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		60	170	60	170
FBXL13	222235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	ENST00000313221.4	-	20	2583	c.2157A>C	c.(2155-2157)ttA>ttC	p.L719F	FBXL13_ENST00000393772.2_Missense_Mutation_p.L691F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418																																																0													240.0	208.0	219.0					7																	102453840		2203	4300	6503	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2157A>C	7.37:g.102453840T>G	ENSP00000321927:p.Leu719Phe		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941492	0.53079	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.10477	3.0;2.97;2.87;3.0;2.95;2.95;2.87;2.97	5.04	-0.202	0.13208	.	5.064460	0.00166	N	0.000012	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.43094	0.799;0.681;0.799;0.697	B;B;B;B	0.41764	0.366;0.221;0.366;0.201	T	0.16305	-1.0407	10	0.51188	T	0.08	.	4.2182	0.10545	0.1639:0.3883:0.0:0.4478	.	674;437;691;719	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	F	691;674;437;440;691;719;719;437;674	ENSP00000377367:L691F;ENSP00000368610:L674F;ENSP00000368608:L437F;ENSP00000368607:L691F;ENSP00000388608:L719F;ENSP00000321927:L719F;ENSP00000409716:L437F;ENSP00000391550:L674F	ENSP00000321927:L719F	L	-	3	2	FBXL13	102241076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	0.060000	0.16281	0.482000	0.46254	TTA		0.418	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		45	103	45	103
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu	37	7	142561054	142561054	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	ENST00000392957.2	+	5	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_ENST00000442129.1_Silent_p.L23L|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	23						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587																																																0													87.0	66.0	73.0					7																	142561054		2203	4300	6503	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.69G>T	7.37:g.142561054G>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																				0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			9	101	9	101
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	149516518	149516518	+	RNA	SNP	G	G	A	rs555123515	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	ENST00000378016.2	+	0	11921							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711													g|||	2	0.000399361	0.0	0.0	5008	,	,		15267	0.002		0.0	False		,,,				2504	0.0															0													15.0	20.0	18.0					7																	149516518		1959	4125	6084			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516518G>A			Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																					0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	51	10	51
PXDNL	137902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	52233389	52233389	+	Silent	SNP	G	G	A	rs371941977		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	ENST00000356297.4	-	22	4315	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1405	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527																																																0								G		0,3896		0,0,1948	148.0	162.0	157.0		4215	-1.0	0.0	8		157	1,8287		0,1,4143	no	coding-synonymous	PXDNL	NM_144651.4		0,1,6091	AA,AG,GG		0.0121,0.0,0.0082		1405/1464	52233389	1,12183	1948	4144	6092	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4215C>T	8.37:g.52233389G>A			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413718	0.01145	0.0	1.21E-4	ENSG00000147485	ENST00000522933	.	.	.	4.43	-0.977	0.10282	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	.	5.5602	0.17140	0.1731:0.0:0.5851:0.2418	.	.	.	.	L	479	.	.	P	-	2	0	PXDNL	52395942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	-1.078000	0.03117	-2.048000	0.00412	CCG		0.527	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		140	129	140	129
ARHGAP39	80728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	ENST00000276826.5	-	4	1310	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	370					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706																																																0													15.0	12.0	13.0					8																	145773361		2178	4246	6424	SO:0001583	missense	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1109A>G	8.37:g.145773361T>C	ENSP00000276826:p.Gln370Arg		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	T	16.12	3.033945	0.54896	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72942	-0.7;-0.43;-0.7	5.37	5.37	0.77165	.	0.135450	0.52532	D	0.000074	T	0.72906	0.3519	L	0.50333	1.59	0.38847	D	0.95618	P;P	0.38827	0.517;0.649	B;P	0.48304	0.369;0.573	T	0.74321	-0.3703	10	0.39692	T	0.17	-13.1644	13.3108	0.60378	0.0:0.0:0.0:1.0	.	370;370	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	R	370	ENSP00000276826:Q370R;ENSP00000366522:Q370R;ENSP00000445075:Q370R	ENSP00000276826:Q370R	Q	-	2	0	ARHGAP39	145744169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.663000	0.61532	2.032000	0.59987	0.533000	0.62120	CAG		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			15	15	15	15
RGS3	5998	hgsc.bcm.edu;ucsc.edu	37	9	116356592	116356592	+	Intron	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:116356592C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462403.1_Silent_p.N131N|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAACGGGAACCTGCAGAGGC	0.622																																																0													48.0	55.0	53.0					9																	116356592		2202	4300	6502	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-118C>T	9.37:g.116356592C>T			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		82	114	82	114
OLFML2A	169611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T	rs534548756		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	ENST00000373580.3	+	8	1474	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	492	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592																																																0													117.0	91.0	100.0					9																	127572206		2203	4300	6503	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1474C>T	9.37:g.127572206C>T	ENSP00000362682:p.Arg492Trp		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835014	0.71373	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89552	1.39;-2.53	6.07	5.16	0.70880	Olfactomedin-like (3);	0.058981	0.64402	D	0.000006	D	0.93963	0.8067	M	0.83118	2.625	0.44168	D	0.996973	D;D	0.89917	0.999;1.0	D;D	0.65874	0.913;0.939	D	0.94545	0.7748	10	0.87932	D	0	.	13.0997	0.59212	0.4277:0.5723:0.0:0.0	.	278;492	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	W	184;492;278	ENSP00000362682:R492W;ENSP00000288815:R278W	ENSP00000288815:R278W	R	+	1	2	OLFML2A	126612027	0.984000	0.35163	1.000000	0.80357	0.934000	0.57294	0.567000	0.23608	1.534000	0.49203	0.655000	0.94253	CGG		0.592	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		63	101	63	101
DBH	1621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	ENST00000393056.2	+	3	611	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	200					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622																																																0													60.0	58.0	58.0					9																	136507441		2203	4300	6503	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.599C>G	9.37:g.136507441C>G	ENSP00000376776:p.Pro200Arg		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167588	0.38315	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.34859	1.34;1.34	4.97	4.97	0.65823	DOMON domain (1);Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.051665	0.85682	D	0.000000	T	0.51719	0.1691	M	0.81682	2.555	0.53688	D	0.999977	P	0.45011	0.848	P	0.47206	0.541	T	0.58923	-0.7550	10	0.51188	T	0.08	-16.3055	18.2251	0.89914	0.0:1.0:0.0:0.0	.	200	P09172	DOPO_HUMAN	R	200;137;137	ENSP00000376776:P200R;ENSP00000263611:P137R	ENSP00000263611:P137R	P	+	2	0	DBH	135497262	1.000000	0.71417	0.781000	0.31783	0.190000	0.23558	7.254000	0.78329	2.309000	0.77851	0.491000	0.48974	CCC		0.622	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		28	52	28	52
SLC4A1AP	22950	broad.mit.edu;ucsc.edu	37	2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	ENST00000326019.6	+	6	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	482						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398																																																0													99.0	102.0	101.0					2																	27898498		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1445G>A	2.37:g.27898498G>A	ENSP00000323837:p.Arg482His		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286038	0.95517	.	.	ENSG00000163798	ENST00000326019	T	0.42131	0.98	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.68952	2.095	0.80722	D	1	D	0.56521	0.976	P	0.53224	0.721	T	0.62282	-0.6887	10	0.87932	D	0	-9.1232	19.0781	0.93171	0.0:0.0:1.0:0.0	.	482	Q9BWU0	NADAP_HUMAN	H	482	ENSP00000323837:R482H	ENSP00000323837:R482H	R	+	2	0	SLC4A1AP	27752002	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.148000	0.94652	2.522000	0.85027	0.555000	0.69702	CGT		0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		53	65	53	65
FAM92A1P2	403315	broad.mit.edu;ucsc.edu	37	4	183959228	183959228	+	RNA	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:183959228A>G	ENST00000502308.1	+	0	411					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		AGCTTATGTAACCATTGTAAA	0.413																																																0																																												403315			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959228A>G				RNA	SNP	ENST00000502308.1	37																																																																																					0.413	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			15	8	15	8
PRPF40B	25766	broad.mit.edu;ucsc.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	ENST00000380281.1	+	23	2436	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	PRPF40B_ENST00000261897.1_Missense_Mutation_p.H778R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											69.0	68.0	69.0					12																	50037528		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2372A>G	12.37:g.50037528A>G	ENSP00000369634:p.His791Arg		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	A	13.84	2.357573	0.41801	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.23754	1.89;1.9	4.58	4.58	0.56647	.	0.421373	0.22144	N	0.064002	T	0.41026	0.1141	L	0.39147	1.195	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.24476	-1.0159	10	0.62326	D	0.03	-5.9535	13.4273	0.61032	1.0:0.0:0.0:0.0	.	791;778;790	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	R	778;791	ENSP00000261897:H778R;ENSP00000369634:H791R	ENSP00000261897:H778R	H	+	2	0	PRPF40B	48323795	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.872000	0.87187	2.085000	0.62840	0.454000	0.30748	CAC		0.463	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		28	23	28	23
VPS18	57617	broad.mit.edu;ucsc.edu	37	15	41193149	41193149	+	Silent	SNP	C	C	T	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	ENST00000220509.5	+	4	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	711					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632													C|||	13	0.00259585	0.0008	0.0	5008	,	,		19518	0.0		0.0099	False		,,,				2504	0.002															0								C		6,4400	11.4+/-27.6	0,6,2197	52.0	49.0	50.0		2133	-10.4	0.8	15	dbSNP_121	50	79,8521	45.8+/-104.6	1,77,4222	no	coding-synonymous	VPS18	NM_020857.2		1,83,6419	TT,TC,CC		0.9186,0.1362,0.6535		711/974	41193149	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2133C>T	15.37:g.41193149C>T			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	CCDS10069.1																																																																																				0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			51	13	51	13
CCDC109B	55013	broad.mit.edu;ucsc.edu	37	4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	ENST00000394650.4	+	3	363	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	77					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328																																																0													86.0	71.0	76.0					4																	110581405		2203	4300	6503	SO:0001583	missense	55013			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.230C>G	4.37:g.110581405C>G	ENSP00000378145:p.Ser77Cys		A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340900	0.81911	.	.	ENSG00000005059	ENST00000394650;ENST00000452915	T;T	0.50548	0.74;0.74	5.43	5.43	0.79202	.	0.096626	0.41823	U	0.000806	T	0.70745	0.3259	M	0.75085	2.285	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.73889	-0.3840	10	0.87932	D	0	-10.3143	19.2428	0.93891	0.0:1.0:0.0:0.0	.	77;56	Q9NWR8;C9JTJ6	C109B_HUMAN;.	C	77;56	ENSP00000378145:S77C;ENSP00000414591:S56C	ENSP00000378145:S77C	S	+	2	0	CCDC109B	110800854	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.871000	0.63042	2.547000	0.85894	0.650000	0.86243	TCT		0.328	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		11	8	11	8
DCHS2	54798	broad.mit.edu;ucsc.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		20691	0.0		0.001	False		,,,				2504	0.001															0								C	,	2,4404	4.2+/-10.8	0,2,2201	149.0	132.0	138.0		2448,666	-11.4	0.0	4	dbSNP_131	138	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	,	816/1370,222/2917	155287390	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.666G>A	4.37:g.155287390C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		22	40	22	40
WNT16	51384	broad.mit.edu;hgsc.bcm.edu	37	7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	ENST00000222462.2	+	1	370	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	27					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647																																																0													27.0	29.0	28.0					7																	120969426		2202	4300	6502	SO:0001589	frameshift_variant	51384			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.80delC	7.37:g.120969426delC	ENSP00000222462:p.Ala27fs		Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	ENST00000222462.2	37	CCDS5781.1																																																																																				0.647	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		33	24	33	24
ASB15	142685	broad.mit.edu;hgsc.bcm.edu	37	7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	ENST00000451558.1	+	12	1560_1561	c.1039_1040delGA	c.(1039-1041)gacfs	p.D348fs	ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455																																																0																																										SO:0001589	frameshift_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1039_1040delGA	7.37:g.123269087_123269088delGA	ENSP00000397655:p.Asp348fs		Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	CCDS34742.1																																																																																				0.455	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			55	162	55	162
PPP2R2A	5520	broad.mit.edu;hgsc.bcm.edu	37	8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-	rs369862992|rs567610910		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	ENST00000380737.3	+	10	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	387					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R389H(1)|p.R389R(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)																																								SO:0001651	inframe_deletion	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1159_1176delAAGCCTCGCACAGTTCTG	8.37:g.26227744_26227761delAAGCCTCGCACAGTTCTG	ENSP00000370113:p.Lys387_Leu392del		B2RBU8|B4E1T7|P50409|Q00007	In_Frame_Del	DEL	ENST00000380737.3	37	CCDS34867.1																																																																																				0.431	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		18	37	18	37
TSPAN32	10077	broad.mit.edu;hgsc.bcm.edu	37	11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	ENST00000182290.4	+	8	832_833	c.695_696insG	c.(694-699)aagggcfs	p.KG232fs	TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.KG221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.KG232fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	232					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658																																																0																																										SO:0001589	frameshift_variant	10077			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.698dupG	11.37:g.2337876_2337876dupG	ENSP00000182290:p.Lys232fs		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Frame_Shift_Ins	INS	ENST00000182290.4	37	CCDS7733.1																																																																																				0.658	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		75	78	75	78
SLCO2B1	11309	broad.mit.edu;hgsc.bcm.edu	37	11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	ENST00000289575.5	+	9	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.L361fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.L267fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.L128fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.L239fs	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	383					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCAGGTATGCTTGTCATCCATG	0.624																																																0																																										SO:0001589	frameshift_variant	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1148_1149dupTG	11.37:g.74904335_74904336dupTG	ENSP00000289575:p.Leu383fs		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Frame_Shift_Ins	INS	ENST00000289575.5	37	CCDS8235.1																																																																																				0.624	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		71	89	71	89
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	ENST00000575354.2	+	10	2728_2729	c.2688_2689insC	c.(2689-2691)cccfs	p.P897fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1806fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P897fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	897	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2694dupC	19.37:g.42795614_42795614dupC	ENSP00000458663:p.Pro897fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																				0.609	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			88	18	88	18
