#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ARHGAP29	9411	broad.mit.edu;ucsc.edu	37	1	94649704	94649707	+	Splice_Site	DEL	TACC	TACC	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	TACC	TACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:94649704_94649707delTACC	ENST00000260526.6	-	19	2429_2430	c.2247_2248delGGTA	c.(2245-2250)caggta>cata	p.QV749fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	749	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAAAAATTTTTACCTGCCGAAGGT	0.309																																																	0																																										SO:0001630	splice_region_variant	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2247+1GGTA>-	1.37:g.94649704_94649707delTACC		Somatic		WXS	Illumina GAIIx	Phase_I	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Splice_Site	DEL	ENST00000260526.6	37	CCDS748.1																																																																																				0.309	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815	Frame_Shift_Del
ATMIN	23300	hgsc.bcm.edu	37	16	81077767	81077774	+	Frame_Shift_Del	DEL	TAAATCAA	TAAATCAA	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	TAAATCAA	TAAATCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr16:81077767_81077774delTAAATCAA	ENST00000299575.4	+	4	1688_1695	c.1664_1671delTAAATCAA	c.(1663-1671)ttaaatcaafs	p.LNQ555fs	ATMIN_ENST00000566488.1_Frame_Shift_Del_p.LNQ399fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.LNQ399fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	555					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCTAAGACTTTAAATCAAGATATTGAGA	0.337																																																	0																																										SO:0001589	frameshift_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1664_1671delTAAATCAA	16.37:g.81077767_81077774delTAAATCAA	ENSP00000299575:p.Leu555fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	CCDS32494.1																																																																																				0.337	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251	
ATP10B	23120	broad.mit.edu;ucsc.edu	37	5	160061395	160061395	+	Silent	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:160061395G>A	ENST00000327245.5	-	12	2193	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	449					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T449T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCATGATGGTGCAACGTC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	130.0	130.0					5																	160061395		1957	4148	6105	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1347C>T	5.37:g.160061395G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1		NM_025153	
BCORL1	63035	hgsc.bcm.edu	37	X	129189951	129189952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chrX:129189951_129189952insG	ENST00000218147.7	+	13	5173_5174	c.4976_4977insG	c.(4975-4980)caggtgfs	p.V1660fs	BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.V1530fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.V1660fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.V1734fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1660					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTACAGGCAGGTGGCCTCCA	0.609																																																	0																																										SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4978dupG	X.37:g.129189953_129189953dupG	ENSP00000218147:p.Val1660fs	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	CCDS14616.1																																																																																				0.609	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	
MMP23B	8510	hgsc.bcm.edu	37	1	1571829	1571829	+	IGR	SNP	A	A	G	rs147836863	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:1571829A>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Silent_p.P600P|CDK11B_ENST00000340677.5_Silent_p.P634P|CDK11B_ENST00000407249.3_Silent_p.P647P|CDK11B_ENST00000317673.7_Silent_p.P645P			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	TTTTCTCACTAGGGGTCCCCA	0.587																																																	0													55.0	48.0	50.0					1																	1571829		1923	4121	6044	SO:0001628	intergenic_variant	984				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571829A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	CCDS30559.1																																																																																				0.587	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2		NM_006983	
MMP23B	8510	hgsc.bcm.edu	37	1	1571841	1571841	+	IGR	SNP	A	A	C	rs150949339	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:1571841A>C	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.D596E|CDK11B_ENST00000340677.5_Missense_Mutation_p.D630E|CDK11B_ENST00000407249.3_Missense_Mutation_p.D643E|CDK11B_ENST00000317673.7_Missense_Mutation_p.D641E			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D643E(3)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	GGGTCCCCAGATCCTGAAAGA	0.577																																																	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(1)|lung(1)|central_nervous_system(1)						A	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	663,3183		0,663,1260	41.0	40.0	40.0		1665,1152,1554,1563,1683,1656	2.6	1.0	1	dbSNP_134	40	156,8096		0,156,3970	no	missense,missense,missense,missense,missense,missense	CDK11B	NM_033486.1,NM_033487.1,NM_033488.1,NM_033489.1,NM_033492.1,NM_033493.1	45,45,45,45,45,45	0,819,5230	CC,CA,AA		1.8905,17.2387,6.7697	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	555/698,384/527,518/661,521/664,561/704,552/695	1571841	819,11279	1923	4126	6049	SO:0001628	intergenic_variant	984				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571841A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	CCDS30559.1																																																																																				0.577	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2		NM_006983	
COL8A2	1296	broad.mit.edu;hgsc.bcm.edu	37	1	36564618	36564618	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:36564618C>A	ENST00000397799.1	-	4	888	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	COL8A2_ENST00000303143.4_Missense_Mutation_p.G222W|COL8A2_ENST00000481785.1_Missense_Mutation_p.G157W			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	222	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G222W(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGCACCCCCCTGCCCTGGG	0.721																																																	1	Substitution - Missense(1)	kidney(1)											7.0	9.0	8.0					1																	36564618		1870	3783	5653	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.664G>T	1.37:g.36564618C>A	ENSP00000380901:p.Gly222Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630835	0.28978	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91351	-2.81;-2.81;-2.83	4.57	2.7	0.31948	.	0.324233	0.33023	N	0.005371	D	0.88757	0.6523	L	0.34521	1.04	0.31148	N	0.705888	P	0.34699	0.464	P	0.47075	0.536	D	0.87294	0.2301	10	0.72032	D	0.01	.	10.1212	0.42621	0.0:0.8349:0.0:0.1651	.	222	P25067	CO8A2_HUMAN	W	222;222;157;222	ENSP00000305913:G222W;ENSP00000380901:G222W;ENSP00000436433:G157W	ENSP00000305913:G222W	G	-	1	0	COL8A2	36337205	0.030000	0.19436	0.992000	0.48379	0.875000	0.50365	1.282000	0.33226	0.556000	0.29098	0.511000	0.50034	GGG		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1		NM_005202	
CTNNB1	1499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	41275110	41275110	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:41275110A>G	ENST00000349496.5	+	9	1556	c.1276A>G	c.(1276-1278)Aac>Gac	p.N426D	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N426D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N419D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N426D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N426D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	426					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N426D(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AATTCTTTCTAACCTCACTTG	0.468		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	1	Substitution - Missense(1)	kidney(1)											154.0	151.0	152.0					3																	41275110		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1276A>G	3.37:g.41275110A>G	ENSP00000344456:p.Asn426Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824100	0.90873	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.88754	0.3252	10	0.72032	D	0.01	-18.2522	16.255	0.82510	1.0:0.0:0.0:0.0	.	354;419;426	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	D	426;426;426;419;426	ENSP00000385604:N426D;ENSP00000379486:N426D;ENSP00000344456:N426D;ENSP00000411226:N419D;ENSP00000379488:N426D	ENSP00000344456:N426D	N	+	1	0	CTNNB1	41250114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAC		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2		NM_001098210	
CYFIP1	23191	hgsc.bcm.edu;ucsc.edu	37	15	22928433	22928434	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr15:22928433_22928434delAG	ENST00000313077.7	+	5	435_436	c.310_311delAG	c.(310-312)agafs	p.R104fs	CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.R104fs	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCCTAACAGAGTGGAAATC	0.465																																																	0																																										SO:0001589	frameshift_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.310_311delAG	15.37:g.22928435_22928436delAG	ENSP00000324549:p.Arg104fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000313077.7	37	CCDS10009.1																																																																																				0.465	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608	
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169477270	169477270	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:169477270T>A	ENST00000256935.8	+	41	4162	c.4082T>A	c.(4081-4083)tTc>tAc	p.F1361Y	DOCK2_ENST00000540750.1_Missense_Mutation_p.F422Y|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F853Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1361	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.F1361Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAAAGTGTTCATCTACCGC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											137.0	142.0	141.0					5																	169477270		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4082T>A	5.37:g.169477270T>A	ENSP00000256935:p.Phe1361Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	31	5.066166	0.93898	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.19806	2.78;2.4;2.12	5.42	5.42	0.78866	.	0.057300	0.64402	D	0.000001	T	0.44244	0.1284	M	0.68728	2.09	0.46849	D	0.999229	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.984	T	0.23762	-1.0179	10	0.33940	T	0.23	.	15.4528	0.75285	0.0:0.0:0.0:1.0	.	853;1361	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1361;853;422	ENSP00000256935:F1361Y;ENSP00000429283:F853Y;ENSP00000438827:F422Y	ENSP00000256935:F1361Y	F	+	2	0	DOCK2	169409848	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.060000	0.61445	0.533000	0.62120	TTC		0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946	
FLNC	2318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128484237	128484237	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr7:128484237A>G	ENST00000325888.8	+	20	3370	c.3109A>G	c.(3109-3111)Aag>Gag	p.K1037E	FLNC_ENST00000346177.6_Missense_Mutation_p.K1037E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1037					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.K1037E(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGGCCCTACAAGGTGGATAT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											26.0	29.0	28.0					7																	128484237		2032	4186	6218	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3109A>G	7.37:g.128484237A>G	ENSP00000327145:p.Lys1037Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	3.181	-0.167946	0.06461	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	4.85	4.85	0.62838	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.110564	0.64402	D	0.000013	T	0.75910	0.3914	L	0.31926	0.97	0.39783	D	0.972329	P;B	0.37015	0.578;0.384	B;B	0.41466	0.358;0.158	T	0.72717	-0.4209	10	0.02654	T	1	.	9.389	0.38361	0.9074:0.0:0.0926:0.0	.	1037;1037	Q14315-2;Q14315	.;FLNC_HUMAN	E	1037	ENSP00000327145:K1037E;ENSP00000344002:K1037E	ENSP00000327145:K1037E	K	+	1	0	FLNC	128271473	0.966000	0.33281	1.000000	0.80357	0.977000	0.68977	1.754000	0.38369	1.815000	0.52974	0.397000	0.26171	AAG		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89979836	89979836	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:89979836G>C	ENST00000405460.2	+	28	6194	c.6098G>C	c.(6097-6099)aGa>aCa	p.R2033T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2033	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R2033T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTTAGCGAGAGCAACTCAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											86.0	82.0	84.0					5																	89979836		1842	4082	5924	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6098G>C	5.37:g.89979836G>C	ENSP00000384582:p.Arg2033Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776062	0.70107	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.19250	2.16	5.71	4.84	0.62591	Na-Ca exchanger/integrin-beta4 (2);	0.045007	0.85682	D	0.000000	T	0.46229	0.1382	M	0.76838	2.35	0.80722	D	1	D	0.56287	0.975	D	0.64237	0.923	T	0.51196	-0.8736	10	0.72032	D	0.01	.	14.9132	0.70773	0.0692:0.0:0.9308:0.0	.	2033	Q8WXG9	GPR98_HUMAN	T	2033	ENSP00000384582:R2033T	ENSP00000296619:R2033T	R	+	2	0	GPR98	90015592	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.363000	0.73082	1.412000	0.46977	0.591000	0.81541	AGA		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
HNRNPUL2	221092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62489317	62489317	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr11:62489317G>T	ENST00000301785.5	-	8	1649	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.A486D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	486						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A486D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGTCTCAGCTCCCAGGAC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											222.0	220.0	221.0					11																	62489317		1880	4114	5994	SO:0001583	missense	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1457C>A	11.37:g.62489317G>T	ENSP00000301785:p.Ala486Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006383	0.74932	.	.	ENSG00000214753	ENST00000301785	T	0.44482	0.92	5.31	5.31	0.75309	Zeta toxin domain (1);	0.057630	0.64402	D	0.000001	T	0.35595	0.0937	N	0.14661	0.345	0.40623	D	0.981782	P	0.42123	0.771	P	0.45474	0.482	T	0.34254	-0.9836	10	0.66056	D	0.02	-9.7107	16.5211	0.84317	0.0:0.0:1.0:0.0	.	486	Q1KMD3	HNRL2_HUMAN	D	486	ENSP00000301785:A486D	ENSP00000301785:A486D	A	-	2	0	HNRNPUL2	62245893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.712000	0.68407	2.779000	0.95612	0.655000	0.94253	GCT		0.438	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2		XM_495877	
HSP90AB1	3326	hgsc.bcm.edu;ucsc.edu	37	6	44219502	44219503	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:44219502_44219503insC	ENST00000371554.1	+	9	1557_1558	c.1343_1344insC	c.(1342-1347)cgccgcfs	p.R449fs	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Frame_Shift_Ins_p.R449fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Ins_p.R449fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	449					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.R448L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACTAACCGCCGCCGCCTGT	0.465																																																	1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1345dupC	6.37:g.44219504_44219504dupC	ENSP00000360609:p.Arg449fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Ins	INS	ENST00000371554.1	37	CCDS4909.1																																																																																				0.465	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355	
KEAP1	9817	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10610395	10610395	+	Silent	SNP	A	A	G	rs377493095		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:10610395A>G	ENST00000171111.5	-	2	862	c.315T>C	c.(313-315)ccT>ccC	p.P105P	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.P105P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	105	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.P105P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCTTGAAGACAGGGCTGGATG	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	68.0	73.0					19																	10610395		2203	4300	6503	SO:0001819	synonymous_variant	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.315T>C	19.37:g.10610395A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																				0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289	
KIAA0556	23247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27715251	27715251	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr16:27715251G>T	ENST00000261588.4	+	12	1340	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	441						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V441F(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCTCCAGGCCGTCGAAAGTGA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											105.0	104.0	104.0					16																	27715251		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1321G>T	16.37:g.27715251G>T	ENSP00000261588:p.Val441Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496771	0.44352	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.10960	2.82	5.93	1.2	0.21068	.	0.470480	0.23708	N	0.045346	T	0.07369	0.0186	N	0.22421	0.69	0.21897	N	0.999487	B;P	0.39157	0.216;0.662	B;B	0.37731	0.171;0.257	T	0.21109	-1.0255	10	0.59425	D	0.04	-5.313	9.297	0.37822	0.7166:0.0:0.2834:0.0	.	349;441	Q8N803;O60303	.;K0556_HUMAN	F	441;348	ENSP00000261588:V441F	ENSP00000261588:V441F	V	+	1	0	KIAA0556	27622752	0.009000	0.17119	0.225000	0.23894	0.733000	0.41908	0.314000	0.19432	-0.064000	0.13043	-0.367000	0.07326	GTC		0.448	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202	
NBEA	26960	broad.mit.edu;hgsc.bcm.edu	37	13	36220480	36220480	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr13:36220480C>T	ENST00000400445.3	+	50	8236	c.7702C>T	c.(7702-7704)Cac>Tac	p.H2568Y	NBEA_ENST00000537702.1_Missense_Mutation_p.H361Y|NBEA_ENST00000540320.1_Missense_Mutation_p.H2568Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H2565Y|NBEA_ENST00000379922.3_Missense_Mutation_p.H146Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H2568Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2568					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.H2568Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTCTGCCATGCACCTGGTAAG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											82.0	77.0	79.0					13																	36220480		2009	4174	6183	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7702C>T	13.37:g.36220480C>T	ENSP00000383295:p.His2568Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347237	0.82022	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.57907	0.66;0.66;0.66;0.66;0.48;0.37	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.47190	1.495	0.80722	D	1	B;P;B	0.39094	0.063;0.659;0.032	B;P;B	0.45998	0.023;0.5;0.006	T	0.56353	-0.7993	10	0.44086	T	0.13	.	19.1918	0.93669	0.0:1.0:0.0:0.0	.	2568;146;2565	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	Y	2568;2568;2565;2568;1195;146;361;146	ENSP00000440951:H2568Y;ENSP00000383295:H2568Y;ENSP00000369271:H2565Y;ENSP00000308534:H2568Y;ENSP00000440233:H361Y;ENSP00000369254:H146Y	ENSP00000308534:H2568Y	H	+	1	0	NBEA	35118480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.731000	0.84895	2.609000	0.88269	0.563000	0.77884	CAC		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678	
NCOR1	9611	hgsc.bcm.edu	37	17	16097825	16097825	+	Missense_Mutation	SNP	T	T	G	rs73281920	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr17:16097825T>G	ENST00000268712.3	-	2	316	c.59A>C	c.(58-60)tAt>tCt	p.Y20S	NCOR1_ENST00000395848.1_Missense_Mutation_p.Y20S|NCOR1_ENST00000395851.1_Missense_Mutation_p.Y20S|RN7SL442P_ENST00000473804.2_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	20	Interaction with ZBTB33 and HEXIM1.			Y -> S (in Ref. 2; AAO32942). {ECO:0000305}.	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Y20F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGAGGAGGATAACGACTTTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											215.0	146.0	169.0					17																	16097825		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.59A>C	17.37:g.16097825T>G	ENSP00000268712:p.Tyr20Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906660	0.33628	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828;ENST00000430577	T;T;T	0.60548	0.21;0.79;0.18	5.24	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.72220	0.3433	M	0.69823	2.125	0.80722	D	1	D;D;D;D;P;D;P	0.89917	1.0;1.0;1.0;1.0;0.745;0.992;0.739	D;D;D;D;B;D;P	0.91635	0.999;0.999;0.997;0.999;0.265;0.988;0.453	T	0.73285	-0.4031	10	0.87932	D	0	.	9.9889	0.41858	0.0:0.08:0.0:0.92	.	20;20;20;20;20;20;20	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	S	20	ENSP00000268712:Y20S;ENSP00000379192:Y20S;ENSP00000379189:Y20S	ENSP00000268712:Y20S	Y	-	2	0	NCOR1	16038550	1.000000	0.71417	0.570000	0.28473	0.981000	0.71138	5.149000	0.64863	0.829000	0.34733	0.455000	0.32223	TAT		0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NEDD9	4739	hgsc.bcm.edu;ucsc.edu	37	6	11185683	11185684	+	Frame_Shift_Ins	INS	-	-	G	rs367878402		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:11185683_11185684insG	ENST00000379446.5	-	7	2382_2383	c.2216_2217insC	c.(2215-2217)ccgfs	p.P739fs	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Frame_Shift_Ins_p.P739fs	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	739	Divergent helix-loop-helix motif.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CGAAGATTCGCGGGGGCTGGGC	0.525																																																	0																																										SO:0001589	frameshift_variant	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2217dupC	6.37:g.11185688_11185688dupG	ENSP00000368759:p.Pro739fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Frame_Shift_Ins	INS	ENST00000379446.5	37	CCDS4520.1																																																																																				0.525	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		NM_006403	
NINL	22981	hgsc.bcm.edu	37	20	25457050	25457055	+	In_Frame_Del	DEL	CTCCCA	CTCCCA	-	rs68078266|rs146288604|rs200097181|rs34410422|rs201074890	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	CTCCCA	CTCCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr20:25457050_25457055delCTCCCA	ENST00000278886.6	-	17	2945_2950	c.2872_2877delTGGGAG	c.(2872-2877)tgggagdel	p.WE958del	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	958				Missing (in Ref. 4; AAH36380). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCAGGGGTGGCTCCCACATCCGTGGC	0.689														2791	0.557308	0.5356	0.3559	5008	,	,		14584	0.9067		0.4304	False		,,,				2504	0.5																0										1921,2191		513,895,648						0.3	0.0		dbSNP_130	17	3184,4816		750,1684,1566	no	coding	NINL	NM_025176.4		1263,2579,2214	A1A1,A1R,RR		39.8,46.7169,42.1483				5105,7007				SO:0001651	inframe_deletion	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2872_2877delTGGGAG	20.37:g.25457050_25457055delCTCCCA	ENSP00000278886:p.Trp958_Glu959del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	In_Frame_Del	DEL	ENST00000278886.6	37	CCDS33452.1																																																																																				0.689	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176	
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132418875	132418875	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:132418875G>T	ENST00000337331.5	-	12	1860	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M	NPHP3_ENST00000326682.8_Missense_Mutation_p.L592M	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	592					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.L592M(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGTGTCAGAGCAGAGACT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											73.0	70.0	71.0					3																	132418875		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1774C>A	3.37:g.132418875G>T	ENSP00000338766:p.Leu592Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218057	0.58560	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	T;T	0.77877	-1.13;-1.13	5.68	2.61	0.31194	.	0.072320	0.56097	D	0.000028	T	0.82084	0.4960	M	0.69823	2.125	0.50632	D	0.999885	D	0.52996	0.957	P	0.62184	0.899	T	0.79032	-0.1969	10	0.51188	T	0.08	-3.369	4.9212	0.13871	0.2946:0.0:0.5652:0.1402	.	592	Q7Z494	NPHP3_HUMAN	M	592	ENSP00000319909:L592M;ENSP00000338766:L592M	ENSP00000319909:L592M	L	-	1	2	NPHP3	133901565	0.510000	0.26171	0.150000	0.22450	0.977000	0.68977	0.975000	0.29449	0.601000	0.29879	0.650000	0.86243	CTG		0.443	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		NM_153240	
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154042867	154042867	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:154042867A>C	ENST00000368559.3	-	17	2507	c.2436T>G	c.(2434-2436)aaT>aaG	p.N812K	NUP210L_ENST00000271854.3_Missense_Mutation_p.N812K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	812					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.N812K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGAACTGAAATTATCAAACT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											117.0	106.0	110.0					1																	154042867		1862	4088	5950	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2436T>G	1.37:g.154042867A>C	ENSP00000357547:p.Asn812Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.722864	0.48728	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.25749	1.78;1.78	5.06	1.0	0.19881	.	0.000000	0.56097	D	0.000026	T	0.17066	0.0410	M	0.74647	2.275	0.36739	D	0.882123	P;P	0.39665	0.682;0.457	B;B	0.42798	0.398;0.227	T	0.02901	-1.1096	10	0.87932	D	0	-20.8226	7.1832	0.25784	0.6076:0.0:0.3924:0.0	.	812;812	E7EP56;Q5VU65	.;P210L_HUMAN	K	812	ENSP00000357547:N812K;ENSP00000271854:N812K	ENSP00000271854:N812K	N	-	3	2	NUP210L	152309491	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.822000	0.27352	0.289000	0.22422	0.329000	0.21502	AAT		0.358	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308	
PABPC1	26986	hgsc.bcm.edu	37	8	101725327	101725327	+	Silent	SNP	T	T	C	rs62513927		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr8:101725327T>C	ENST00000318607.5	-	5	1854	c.726A>G	c.(724-726)gaA>gaG	p.E242E	PABPC1_ENST00000519004.1_Silent_p.E197E|PABPC1_ENST00000522387.1_Silent_p.E210E|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	242	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TCTGTGCATCTTCATGCCTTT	0.373																																																	0													77.0	69.0	71.0					8																	101725327		2203	4300	6503	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.726A>G	8.37:g.101725327T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.303|9.303	1.053484|1.053484	0.19907|0.19907	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000519596	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|T	0.70753|0.70753	0.3260|0.3260	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70498|0.70498	-0.4855|-0.4855	4|4	.|.	.|.	.|.	.|.	14.9391|14.9391	0.70980|0.70980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs62513927|rs62513927	.|.	.|.	.|.	R|G	111|75	.|.	.|.	K|R	-|-	2|1	0|2	PABPC1|PABPC1	101794503|101794503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.800000|2.800000	0.47900|0.47900	1.992000|1.992000	0.58205|0.58205	0.383000|0.383000	0.25322|0.25322	AAG|AGA		0.373	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643770	52643770	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:52643770A>G	ENST00000296302.7	-	16	2127	c.2126T>C	c.(2125-2127)aTt>aCt	p.I709T	PBRM1_ENST00000356770.4_Missense_Mutation_p.I677T|PBRM1_ENST00000409114.3_Missense_Mutation_p.I724T|PBRM1_ENST00000409767.1_Missense_Mutation_p.I724T|PBRM1_ENST00000410007.1_Missense_Mutation_p.I709T|PBRM1_ENST00000394830.3_Missense_Mutation_p.I709T|PBRM1_ENST00000337303.4_Missense_Mutation_p.I709T|PBRM1_ENST00000409057.1_Missense_Mutation_p.I709T			Q86U86	PB1_HUMAN	polybromo 1	709	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I709T(2)|p.I677T(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGACTTCGAATTTTTTCCAT	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											146.0	142.0	143.0					3																	52643770		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2126T>C	3.37:g.52643770A>G	ENSP00000296302:p.Ile709Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	22.6	4.304928	0.81247	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.17	6.17	0.99709	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	H	0.95079	3.62	0.80722	D	1	D;P;D;D;D;P;P;P;D;P;D	0.76494	0.965;0.905;0.978;0.997;0.999;0.956;0.895;0.955;0.994;0.884;0.998	P;P;P;D;D;P;B;P;D;B;D	0.87578	0.798;0.719;0.848;0.96;0.998;0.551;0.42;0.761;0.958;0.412;0.996	D	0.87814	0.2633	10	0.59425	D	0.04	-24.7519	16.8222	0.85835	1.0:0.0:0.0:0.0	.	709;84;709;709;709;709;724;724;709;677;709	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	T	677;709;709;709;709;709;724;724;709;668	ENSP00000349213:I677T;ENSP00000378307:I709T;ENSP00000296302:I709T;ENSP00000338302:I709T;ENSP00000386593:I709T;ENSP00000386529:I709T;ENSP00000386643:I724T;ENSP00000386601:I724T;ENSP00000387775:I709T;ENSP00000397662:I668T	ENSP00000296302:I709T	I	-	2	0	PBRM1	52618810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	ATT		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHB15	56121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140625223	140625223	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:140625223C>T	ENST00000231173.3	+	1	77	c.77C>T	c.(76-78)gCa>gTa	p.A26V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	26					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)	p.A26V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGACTCTGGCAGGCTGGGAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											68.0	75.0	72.0					5																	140625223		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.77C>T	5.37:g.140625223C>T	ENSP00000231173:p.Ala26Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349640	0.24426	.	.	ENSG00000113248	ENST00000231173	T	0.51071	0.72	4.92	4.03	0.46877	.	.	.	.	.	T	0.43344	0.1243	L	0.48935	1.535	0.30610	N	0.759581	B	0.17038	0.02	B	0.19666	0.026	T	0.41698	-0.9494	9	0.29301	T	0.29	.	15.0589	0.71936	0.0:0.8568:0.1432:0.0	.	26	Q9Y5E8	PCDBF_HUMAN	V	26	ENSP00000231173:A26V	ENSP00000231173:A26V	A	+	2	0	PCDHB15	140605407	0.008000	0.16893	0.866000	0.34008	0.817000	0.46193	1.045000	0.30341	1.162000	0.42619	0.491000	0.48974	GCA		0.537	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2		NM_018935	
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50717397	50717397	+	Missense_Mutation	SNP	G	G	A	rs200623878		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr22:50717397G>A	ENST00000449103.1	-	28	4573	c.4433C>T	c.(4432-4434)cCg>cTg	p.P1478L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1478L			O15031	PLXB2_HUMAN	plexin B2	1478					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P1521L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACCTTCACCGGGATGGCGTC	0.622																																																	1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO	0,4400		0,0,2200	119.0	122.0	121.0		4433	3.2	0.1	22		121	2,8596	2.2+/-6.3	0,2,4297	yes	missense	PLXNB2	NM_012401.3	98	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1478/1839	50717397	2,12996	2200	4299	6499	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4433C>T	22.37:g.50717397G>A	ENSP00000409171:p.Pro1478Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914294	0.33815	0.0	2.33E-4	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.11712	2.75;2.75	4.27	3.24	0.37175	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	M	0.81942	2.565	0.38254	D	0.941702	D	0.89917	1.0	D	0.71184	0.972	T	0.37619	-0.9698	10	0.52906	T	0.07	.	13.8862	0.63710	0.0:0.0:0.8462:0.1538	.	1478	O15031	PLXB2_HUMAN	L	1478;1478;110	ENSP00000409171:P1478L;ENSP00000352288:P1478L	ENSP00000352288:P1478L	P	-	2	0	PLXNB2	49059524	1.000000	0.71417	0.071000	0.20095	0.040000	0.13550	4.384000	0.59607	1.128000	0.42052	-0.493000	0.04662	CCG		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401	
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118321017	118321017	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr10:118321017T>A	ENST00000369221.2	+	12	1231	c.1203T>A	c.(1201-1203)aaT>aaA	p.N401K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	401	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.N401K(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTCATTCCAATGAATTTGACT	0.348																																																	2	Substitution - Missense(2)	kidney(2)											109.0	106.0	107.0					10																	118321017		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1203T>A	10.37:g.118321017T>A	ENSP00000358223:p.Asn401Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429382	0.25726	.	.	ENSG00000175535	ENST00000369221	T	0.64803	-0.12	6.06	2.41	0.29592	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.357965	0.26844	N	0.022210	T	0.48572	0.1507	L	0.60904	1.88	0.32086	N	0.592474	B	0.15141	0.012	B	0.14578	0.011	T	0.42599	-0.9442	10	0.25106	T	0.35	.	1.4763	0.02427	0.1291:0.2123:0.1344:0.5242	.	401	P16233	LIPP_HUMAN	K	401	ENSP00000358223:N401K	ENSP00000358223:N401K	N	+	3	2	PNLIP	118311007	0.000000	0.05858	0.996000	0.52242	0.905000	0.53344	-0.125000	0.10579	0.157000	0.19338	0.533000	0.62120	AAT		0.348	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936	
PTPRJ	5795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48166268	48166268	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr11:48166268G>T	ENST00000418331.2	+	13	2969	c.2617G>T	c.(2617-2619)Gat>Tat	p.D873Y		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	873	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.D873Y(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CACGTATGAGGATTTCAAAAA	0.398																																																	2	Substitution - Missense(2)	kidney(2)											101.0	96.0	98.0					11																	48166268		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2617G>T	11.37:g.48166268G>T	ENSP00000400010:p.Asp873Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796676	0.50208	.	.	ENSG00000149177	ENST00000418331	T	0.20463	2.07	5.45	5.45	0.79879	Fibronectin, type III (2);	.	.	.	.	T	0.36082	0.0954	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07309	-1.0779	9	0.72032	D	0.01	.	14.8032	0.69932	0.0:0.0:1.0:0.0	.	873	Q12913	PTPRJ_HUMAN	Y	873	ENSP00000400010:D873Y	ENSP00000400010:D873Y	D	+	1	0	PTPRJ	48122844	1.000000	0.71417	0.948000	0.38648	0.198000	0.23893	5.583000	0.67484	2.552000	0.86080	0.650000	0.86243	GAT		0.398	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			
RBPJ	3516	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26426100	26426100	+	Splice_Site	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr4:26426100C>T	ENST00000361572.6	+	6	866	c.672C>T	c.(670-672)ctC>ctT	p.L224L	RBPJ_ENST00000504907.1_Splice_Site_p.L210L|RBPJ_ENST00000348160.4_Splice_Site_p.L211L|RBPJ_ENST00000507561.1_Splice_Site_p.L189L|RBPJ_ENST00000345843.3_Splice_Site_p.L209L|RBPJ_ENST00000342320.4_Splice_Site_p.L210L|RBPJ_ENST00000342295.1_Splice_Site_p.L224L|RBPJ_ENST00000355476.3_Splice_Site_p.L210L			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	224					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L210L(1)|p.L211L(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTATTCATCTCTGTGAGTATA	0.348																																																	2	Substitution - coding silent(2)	kidney(2)											102.0	107.0	105.0					4																	26426100		2203	4300	6503	SO:0001630	splice_region_variant	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.673+1C>T	4.37:g.26426100C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DY22|Q5XKH9|Q6P1N3	Silent	SNP	ENST00000361572.6	37	CCDS3437.1																																																																																				0.348	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2		NM_015874	Silent
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48053615	48053615	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr15:48053615G>T	ENST00000316364.5	+	6	873	c.434G>T	c.(433-435)tGt>tTt	p.C145F	SEMA6D_ENST00000537942.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.C145F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.C145F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.C145F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.C145F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.C145F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	145	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C145F(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCCCATGTGTAGATACTAC	0.343																																																	2	Substitution - Missense(2)	kidney(2)											103.0	95.0	97.0					15																	48053615		2198	4297	6495	SO:0001583	missense	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.434G>T	15.37:g.48053615G>T	ENSP00000324857:p.Cys145Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784102	0.70222	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.85092	0.0952	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	145;145;145;145;145	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	145	ENSP00000442040:C145F;ENSP00000446152:C145F;ENSP00000324857:C145F;ENSP00000374084:C145F;ENSP00000374083:C145F;ENSP00000346786:C145F;ENSP00000350770:C145F;ENSP00000374079:C145F;ENSP00000348276:C145F;ENSP00000374076:C145F	ENSP00000324857:C145F	C	+	2	0	SEMA6D	45840907	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.773000	0.95371	0.655000	0.94253	TGT		0.343	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966	
SHB	6461	hgsc.bcm.edu	37	9	37974676	37974677	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr9:37974676_37974677insG	ENST00000377707.3	-	3	1561_1562	c.996_997insC	c.(994-999)cccgccfs	p.A333fs	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	333	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TACTCATCGGCGGGCCTGTCGT	0.639																																																	0																																										SO:0001589	frameshift_variant	6461				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.997dupC	9.37:g.37974679_37974679dupG	ENSP00000366936:p.Ala333fs	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Ins	INS	ENST00000377707.3	37	CCDS43806.1																																																																																				0.639	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168098202	168098202	+	Splice_Site	SNP	C	C	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:168098202C>G	ENST00000519560.1	-	34	4547		c.e34+1		SLIT3_ENST00000332966.8_Splice_Site|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACACTGACCTGTGGCCGA	0.667																																					Ovarian(29;311 847 10864 17279 24903)												1	Unknown(1)	kidney(1)											21.0	23.0	22.0					5																	168098202		2165	4261	6426	SO:0001630	splice_region_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4127+1G>C	5.37:g.168098202C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936915	0.73557	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2563	0.93947	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT3	168030780	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.771000	0.85420	2.545000	0.85829	0.462000	0.41574	.		0.667	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062	Intron
SPEG	10290	hgsc.bcm.edu	37	2	220331989	220331990	+	Frame_Shift_Ins	INS	-	-	G	rs568360621		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr2:220331989_220331990insG	ENST00000312358.7	+	10	3107_3108	c.2975_2976insG	c.(2974-2979)gcggggfs	p.AG992fs	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	992	Ig-like 4.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCTGGTGGCGGGGCCCACTG	0.663																																																	0																																										SO:0001589	frameshift_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2979dupG	2.37:g.220331993_220331993dupG	ENSP00000311684:p.Ala992fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Ins	INS	ENST00000312358.7	37	CCDS42824.1																																																																																				0.663	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876	
TINAG	27283	hgsc.bcm.edu;ucsc.edu	37	6	54173613	54173614	+	Frame_Shift_Del	DEL	AG	AG	-	rs533842810	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:54173613_54173614delAG	ENST00000259782.4	+	1	361_362	c.265_266delAG	c.(265-267)agafs	p.R89fs	TINAG_ENST00000370864.3_Frame_Shift_Del_p.R71fs|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Frame_Shift_Del_p.R85fs	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	89	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATTCTGTGACAGAGAAAATTCT	0.45														3	0.000599042	0.0	0.0	5008	,	,		19808	0.0		0.0	False		,,,				2504	0.0031																0																																										SO:0001589	frameshift_variant	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.265_266delAG	6.37:g.54173615_54173616delAG	ENSP00000259782:p.Arg89fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T467|Q9UJW1|Q9ULZ4	Frame_Shift_Del	DEL	ENST00000259782.4	37	CCDS4955.1																																																																																				0.450	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1		NM_014464	
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117825304	117825304	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr9:117825304G>A	ENST00000350763.4	-	13	4336	c.3925C>T	c.(3925-3927)Cgt>Tgt	p.R1309C	TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.R1309C|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1309	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R1309C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCATGGAACGCAGGCTGCCA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											95.0	68.0	77.0					9																	117825304		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3925C>T	9.37:g.117825304G>A	ENSP00000265131:p.Arg1309Cys	Somatic		WXS	Illumina HiSeq	Phase_I	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597622	0.28445	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.04970	3.52;3.52	5.4	2.38	0.29361	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.997917	0.08118	N	0.995131	T	0.10766	0.0263	M	0.84326	2.69	0.20975	N	0.999816	B;B	0.28128	0.201;0.027	B;B	0.20184	0.028;0.018	T	0.28490	-1.0042	10	0.59425	D	0.04	.	5.6526	0.17625	0.1675:0.0:0.6764:0.1561	.	1309;1309	E9PC84;P24821	.;TENA_HUMAN	C	1309	ENSP00000265131:R1309C;ENSP00000411406:R1309C	ENSP00000265131:R1309C	R	-	1	0	TNC	116865125	0.000000	0.05858	0.183000	0.23137	0.862000	0.49288	0.367000	0.20382	0.754000	0.32968	0.655000	0.94253	CGT		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160	
URB2	9816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229773797	229773797	+	Missense_Mutation	SNP	C	C	T	rs141779194		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:229773797C>T	ENST00000258243.2	+	4	3573	c.3437C>T	c.(3436-3438)aCg>aTg	p.T1146M		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1146						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T1146M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCGACAGGACGCTGCTCTCC	0.582																																																	1	Substitution - Missense(1)	kidney(1)						C	MET/THR	0,4406		0,0,2203	104.0	106.0	105.0		3437	-2.8	0.0	1	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	URB2	NM_014777.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1146/1525	229773797	1,13005	2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3437C>T	1.37:g.229773797C>T	ENSP00000258243:p.Thr1146Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	6.837	0.523727	0.13066	0.0	1.16E-4	ENSG00000135763	ENST00000258243	T	0.30714	1.52	5.12	-2.83	0.05769	.	1.663720	0.02878	N	0.132484	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	1	B	0.19935	0.04	B	0.09377	0.004	T	0.22556	-1.0213	9	.	.	.	0.171	12.2796	0.54757	0.0:0.4606:0.0:0.5394	.	1146	Q14146	URB2_HUMAN	M	1146	ENSP00000258243:T1146M	.	T	+	2	0	URB2	227840420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.536000	0.06298	-0.225000	0.12378	ACG		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777	
VHL	7428	hgsc.bcm.edu	37	3	10183744	10183744	+	Silent	SNP	C	C	T	rs201663073	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:10183744C>T	ENST00000256474.2	+	1	1053	c.213C>T	c.(211-213)ccC>ccT	p.P71P	VHL_ENST00000345392.2_Silent_p.P71P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	71			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72fs*87(7)|p.E70fs*85(1)|p.P71fs*84(1)|p.N67fs*59(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74fs*51(1)|p.E70_S72>A(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGCGAGCCCTCCCAGGTCA	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				c|||	4	0.000798722	0.0	0.0	5008	,	,		11793	0.001		0.0	False		,,,				2504	0.0031						yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	15	Deletion - Frameshift(13)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(14)|soft_tissue(1)	GRCh37	CI962362	VHL	I							9.0	13.0	12.0					3																	10183744		2153	4222	6375	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.213C>T	3.37:g.10183744C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF223	7766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44570596	44570596	+	Silent	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:44570596G>A	ENST00000434772.3	+	5	870	c.615G>A	c.(613-615)aaG>aaA	p.K205K	ZNF223_ENST00000591793.1_Silent_p.K315K	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K205K(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AACTCTTTAAGTGTGACGTGT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	130.0	130.0					19																	44570596		2203	4300	6503	SO:0001819	synonymous_variant	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.615G>A	19.37:g.44570596G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																				0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			
ANKRD30BP2	149992	broad.mit.edu	37	21	14437700	14437700	+	IGR	DEL	A	A	-	rs574362654		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr21:14437700delA								RNU6-614P (17690 upstream) : AL050302.1 (304230 downstream)																							ctaaaaatacaaaaaaaaaaa	0.527																																																	0																																										SO:0001628	intergenic_variant	0																															21.37:g.14437700delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.527									
CNNM3	26505	broad.mit.edu	37	2	97493923	97493923	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr2:97493923C>T	ENST00000305510.3	+	5	1805	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	CNNM3_ENST00000377060.3_Missense_Mutation_p.P545S|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	593					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.P593S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCTAACTGTGCCATCCTCGGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											94.0	91.0	92.0					2																	97493923		2203	4300	6503	SO:0001583	missense	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1777C>T	2.37:g.97493923C>T	ENSP00000305449:p.Pro593Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767782	0.49574	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90563	-2.52;-2.69	5.27	5.27	0.74061	.	0.212946	0.40385	N	0.001104	D	0.86920	0.6049	L	0.41710	1.295	0.80722	D	1	B;B	0.21520	0.02;0.057	B;B	0.27715	0.054;0.082	T	0.81682	-0.0822	10	0.13470	T	0.59	-21.622	17.8158	0.88634	0.0:1.0:0.0:0.0	.	545;593	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	S	545;545;593	ENSP00000366260:P545S;ENSP00000305449:P593S	ENSP00000305449:P593S	P	+	1	0	CNNM3	96857650	0.554000	0.26522	0.828000	0.32881	0.074000	0.17049	2.733000	0.47360	2.746000	0.94184	0.561000	0.74099	CCA		0.607	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623	
HAS1	3036	broad.mit.edu	37	19	52216712	52216712	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:52216712G>A	ENST00000222115.1	-	5	1739	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	HAS1_ENST00000601714.1_Missense_Mutation_p.R576W|HAS1_ENST00000540069.2_Missense_Mutation_p.R568W	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	569					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R569W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGGTCCGCCGCCGGCAAAGC	0.716																																					NSCLC(132;636 2450 45807 47979)												1	Substitution - Missense(1)	kidney(1)											10.0	12.0	11.0					19																	52216712		2154	4245	6399	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1705C>T	19.37:g.52216712G>A	ENSP00000222115:p.Arg569Trp	Somatic		WXS	Illumina GAIIx	Phase_I	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	11.48	1.651785	0.29336	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.34275	1.37;1.37	2.71	0.384	0.16244	.	0.286062	0.30043	U	0.010557	T	0.43055	0.1230	L	0.41492	1.28	0.34906	D	0.746985	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.65773	0.938;0.867;0.867	T	0.53337	-0.8453	10	0.87932	D	0	-27.6516	8.5388	0.33379	0.0:0.0:0.3977:0.6023	.	568;569;568	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	W	568;569	ENSP00000445021:R568W;ENSP00000222115:R569W	ENSP00000222115:R569W	R	-	1	2	HAS1	56908524	0.996000	0.38824	0.990000	0.47175	0.445000	0.32107	2.122000	0.41987	0.185000	0.20105	0.174000	0.16983	CGG		0.716	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1		NM_001523	
LOC341056	341056	broad.mit.edu	37	11	122888720	122888720	+	IGR	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr11:122888720C>T								BSX (36292 upstream) : HSPA8 (39476 downstream)																							ATTTTTCACTCAATTTGATGC	0.443																																																	0																																										SO:0001628	intergenic_variant	341056																															11.37:g.122888720C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.443									
