#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
ADAMTS5	11096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	28296852	28296852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr21:28296852G>T	ENST00000284987.5	-	8	2434	c.2313C>A	c.(2311-2313)ttC>ttA	p.F771L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	771	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F771L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AATAGGCAGTGAATCTAGTCT	0.428																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												1	Substitution - Missense(1)	kidney(1)											163.0	162.0	162.0					21																	28296852		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2313C>A	21.37:g.28296852G>T	ENSP00000284987:p.Phe771Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023651	0.54683	.	.	ENSG00000154736	ENST00000284987	T	0.61980	0.06	5.93	5.0	0.66597	ADAM-TS Spacer 1 (1);	0.152162	0.64402	D	0.000010	T	0.47619	0.1455	N	0.22421	0.69	0.45194	D	0.998203	B	0.29552	0.248	B	0.30179	0.112	T	0.46816	-0.9164	10	0.45353	T	0.12	.	11.7861	0.52043	0.0676:0.1241:0.8083:0.0	.	771	Q9UNA0	ATS5_HUMAN	L	771	ENSP00000284987:F771L	ENSP00000284987:F771L	F	-	3	2	ADAMTS5	27218723	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.247000	0.65416	2.826000	0.97356	0.655000	0.94253	TTC		0.428	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			
ALDOB	229	hgsc.bcm.edu;ucsc.edu	37	9	104190767	104190770	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs387906225		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:104190767_104190770delTTTG	ENST00000374855.4	-	4	484_487	c.360_363delCAAA	c.(358-363)aacaaafs	p.NK120fs	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	120			Missing (in HFI). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGTTTCTTTGTTTGTTCCTG	0.402																																																	0			GRCh37	CD900270	ALDOB	D				0,4264		0,0,2132						5.9	1.0			251	1,8253		0,1,4126	no	frameshift	ALDOB	NM_000035.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.360_363delCAAA	9.37:g.104190771_104190774delTTTG	ENSP00000363988:p.Asn120fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13741|Q13742|Q5T7D6	Frame_Shift_Del	DEL	ENST00000374855.4	37	CCDS6756.1																																																																																				0.402	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			
ALPP	250	broad.mit.edu;hgsc.bcm.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	rs201259070		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378). {ECO:0000269|PubMed:3461452}.		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667																																																	1	Substitution - Missense(1)	kidney(1)											73.0	75.0	74.0					2																	233245025		2203	4300	6503	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.787C>T	2.37:g.233245025C>T	ENSP00000375881:p.Arg263Cys	Somatic		WXS	Illumina HiSeq	Phase_I	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.825	1.186738	0.21870	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	2.31	0.0197	0.14122	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.003840	0.08014	N	0.990937	D	0.96065	0.8718	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	D	0.88532	0.3103	10	0.51188	T	0.08	.	3.4481	0.07487	0.3001:0.4479:0.0:0.252	.	263	P05187	PPB1_HUMAN	C	263	ENSP00000375881:R263C	ENSP00000375881:R263C	R	+	1	0	ALPP	232953269	0.000000	0.05858	0.953000	0.39169	0.172000	0.22775	-0.022000	0.12480	0.295000	0.22570	0.298000	0.19748	CGC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3		NM_001632	
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112170717	112170717	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:112170717G>A	ENST00000457016.1	+	15	2193	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	APC_ENST00000257430.4_Missense_Mutation_p.D605N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D605N			P25054	APC_HUMAN	adenomatous polyposis coli	605	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D605N(1)|p.?(1)|p.C607fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATAAAGCTGATATATGTGC	0.408		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	3	Substitution - Missense(1)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|kidney(1)|skin(1)											205.0	169.0	181.0					5																	112170717		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1813G>A	5.37:g.112170717G>A	ENSP00000413133:p.Asp605Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431865	0.83776	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.047484	0.85682	D	0.000000	T	0.63803	0.2542	L	0.53249	1.67	0.80722	D	1	B;B	0.30179	0.271;0.271	B;B	0.32624	0.104;0.149	T	0.62020	-0.6942	10	0.56958	D	0.05	-21.9068	20.3409	0.98764	0.0:0.0:1.0:0.0	.	607;605	Q4LE70;P25054	.;APC_HUMAN	N	605;587;605;605;605	ENSP00000413133:D605N;ENSP00000423224:D587N;ENSP00000257430:D605N;ENSP00000427089:D605N;ENSP00000423828:D605N	ENSP00000257430:D605N	D	+	1	0	APC	112198616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GAT		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038	
ARHGEF7	8874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111932908	111932908	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr13:111932908G>T	ENST00000375741.2	+	16	1922	c.1672G>T	c.(1672-1674)Gtg>Ttg	p.V558L	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V465L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V302L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V380L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V380L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V380L|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V508L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V380L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V537L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V455L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V380L(1)|p.V537L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCGGATATTAGTGTCGTGCAA	0.507																																																	2	Substitution - Missense(2)	kidney(2)											142.0	127.0	132.0					13																	111932908		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1672G>T	13.37:g.111932908G>T	ENSP00000364893:p.Val558Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090351	0.55968	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.03	4.18	0.49190	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	M	0.83312	2.635	0.80722	D	1	B;B;B;B;B	0.25390	0.003;0.109;0.022;0.125;0.027	B;B;B;P;B	0.44696	0.047;0.188;0.144;0.458;0.128	T	0.49995	-0.8879	10	0.20046	T	0.44	.	13.0124	0.58739	0.0779:0.0:0.922:0.0	.	302;455;508;558;537	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	L	537;558;508;465;535;380;380;380;380;455;380;302	ENSP00000325994:V537L;ENSP00000364893:V558L;ENSP00000364891:V508L;ENSP00000359657:V465L;ENSP00000418067:V380L;ENSP00000218789:V380L;ENSP00000364888:V380L;ENSP00000397068:V380L;ENSP00000364889:V455L;ENSP00000364875:V380L;ENSP00000417596:V302L	ENSP00000218789:V380L	V	+	1	0	ARHGEF7	110730909	1.000000	0.71417	0.044000	0.18714	0.793000	0.44817	8.911000	0.92721	1.109000	0.41680	0.557000	0.71058	GTG		0.507	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113511	
BAHD1	22893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40758186	40758186	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr15:40758186A>C	ENST00000416165.1	+	7	2271	c.2200A>C	c.(2200-2202)Aag>Cag	p.K734Q	BAHD1_ENST00000560846.1_Missense_Mutation_p.K731Q|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.K733Q	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	734	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.K734Q(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCAGCCGAAAGACAGCACT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											136.0	126.0	129.0					15																	40758186		2203	4300	6503	SO:0001583	missense	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2200A>C	15.37:g.40758186A>C	ENSP00000396976:p.Lys734Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460213	0.43736	.	.	ENSG00000140320	ENST00000416165	T	0.19394	2.15	5.39	4.2	0.49525	Bromo adjacent homology (BAH) domain (3);	0.166091	0.52532	D	0.000062	T	0.25791	0.0628	L	0.28192	0.835	0.29532	N	0.852695	P;D;D	0.56521	0.589;0.976;0.97	B;P;P	0.57057	0.215;0.812;0.714	T	0.03086	-1.1074	10	0.45353	T	0.12	-21.5384	12.0379	0.53435	0.8559:0.144:0.0:0.0	.	731;734;733	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Q	734	ENSP00000396976:K734Q	ENSP00000396976:K734Q	K	+	1	0	BAHD1	38545478	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	3.015000	0.49599	2.057000	0.61298	0.460000	0.39030	AAG		0.587	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1		NM_014952	
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37120329	37120329	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:37120329G>C	ENST00000508244.1	-	48	9230	c.9137C>G	c.(9136-9138)cCt>cGt	p.P3046R	C5orf42_ENST00000512288.1_5'Flank|C5orf42_ENST00000425232.2_Missense_Mutation_p.P3046R|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1944R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3046						integral component of membrane (GO:0016021)		p.P3046R(1)|p.P1944R(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGTGGCCAAGGTGAGCCTTG	0.363																																																	2	Substitution - Missense(2)	kidney(2)											113.0	110.0	111.0					5																	37120329		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9137C>G	5.37:g.37120329G>C	ENSP00000421690:p.Pro3046Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546080	0.86022	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.25	0.216	0.15258	.	0.829819	0.10572	N	0.659003	T	0.52306	0.1726	L	0.56769	1.78	0.09310	N	1	B;D	0.61697	0.004;0.99	B;P	0.60068	0.007;0.868	T	0.41233	-0.9520	10	0.56958	D	0.05	.	1.3232	0.02120	0.243:0.1553:0.4427:0.159	.	3046;1944	E9PH94;Q9H799	.;CE042_HUMAN	R	3046;3046;1944;2112	ENSP00000421690:P3046R;ENSP00000389014:P3046R;ENSP00000274258:P1944R;ENSP00000424223:P2112R	ENSP00000274258:P1944R	P	-	2	0	C5orf42	37156086	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.167000	0.16602	0.193000	0.20303	0.655000	0.94253	CCT		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073	
CEP120	153241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122722335	122722336	+	Nonsense_Mutation	DNP	GC	GC	CA			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:122722335_122722336GC>CA	ENST00000306467.5	-	10	1760_1761	c.1456_1457GC>TG	c.(1456-1458)GCa>TGa	p.A486*	CEP120_ENST00000306481.6_Nonsense_Mutation_p.A460*|CEP120_ENST00000328236.5_Nonsense_Mutation_p.A486*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	486					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A486G(1)|p.A486*(1)|p.A486S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AATAGGAGCTGCACTTCCAAAG	0.327																																																	3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001587	stop_gained	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1456_1457delinsCA	5.37:g.122722335_122722336delinsCA	ENSP00000303058:p.Ala486*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2																																																																																				0.327	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2		NM_153223	
EDNRB	1910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	78472463	78472463	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr13:78472463A>C	ENST00000334286.5	-	7	1437	c.1201T>G	c.(1201-1203)Tta>Gta	p.L401V	EDNRB_ENST00000446573.1_Intron|EDNRB_ENST00000377211.4_Missense_Mutation_p.L491V	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	401					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L491V(1)|p.L401V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CAGCAGCATAAGCATGACTGT	0.403																																																	2	Substitution - Missense(2)	kidney(2)											90.0	81.0	84.0					13																	78472463		2203	4299	6502	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1201T>G	13.37:g.78472463A>C	ENSP00000335311:p.Leu401Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685532	0.68157	.	.	ENSG00000136160	ENST00000377211;ENST00000334286	D;D	0.95980	-3.87;-3.87	5.9	2.12	0.27331	.	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.95168	0.8287	10	0.56958	D	0.05	-10.3135	9.7339	0.40376	0.7388:0.0:0.2612:0.0	.	491;401	P24530-3;P24530	.;EDNRB_HUMAN	V	491;401	ENSP00000366416:L491V;ENSP00000335311:L401V	ENSP00000335311:L401V	L	-	1	2	EDNRB	77370464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.081000	0.41596	0.495000	0.27882	0.528000	0.53228	TTA		0.403	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			
EML1	2009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100375765	100375765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr14:100375765C>A	ENST00000262233.6	+	11	1327	c.1188C>A	c.(1186-1188)taC>taA	p.Y396*	EML1_ENST00000327921.9_Nonsense_Mutation_p.Y384*|EML1_ENST00000334192.4_Nonsense_Mutation_p.Y415*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	396	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.Y415*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACATCTCTACTTTTGGACAC	0.378																																																	2	Substitution - Nonsense(2)	breast(1)|kidney(1)											152.0	150.0	151.0					14																	100375765		2203	4300	6503	SO:0001587	stop_gained	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1188C>A	14.37:g.100375765C>A	ENSP00000262233:p.Tyr396*	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.792554|12.792554	0.99696|0.99696	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000554386|ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.|.	.|.	.|.	5.18|5.18	4.3|4.3	0.51218|0.51218	.|.	.|0.120826	.|0.64402	.|D	.|0.000014	T|.	0.22936|.	0.0554|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31166|.	-0.9953|.	3|.	.|0.02654	.|T	.|1	-25.9836|-25.9836	8.7197|8.7197	0.34434|0.34434	0.0:0.7805:0.0:0.2195|0.0:0.7805:0.0:0.2195	.|.	.|.	.|.	.|.	I|X	89|384;396;415;415	.|.	.|ENSP00000262233:Y396X	L|Y	+|+	1|3	0|2	EML1|EML1	99445518|99445518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.200000|3.200000	0.51051|0.51051	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	CTT|TAC		0.378	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707	
ERICH1	157697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	623548	623548	+	Silent	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:623548G>A	ENST00000262109.7	-	4	881	c.804C>T	c.(802-804)gaC>gaT	p.D268D	ERICH1_ENST00000522706.1_Silent_p.D174D|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	268	Glu-rich.							p.D268D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCTCCCTGGCGTCTTTAACGT	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	121.0	122.0					8																	623548		2203	4300	6503	SO:0001819	synonymous_variant	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.804C>T	8.37:g.623548G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	G	2.351	-0.348905	0.05208	.	.	ENSG00000104714	ENST00000522893	.	.	.	0.939	0.0174	0.14112	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	-0.1622	5.3558	0.16059	0.2221:0.0:0.7779:0.0	.	.	.	.	M	37	.	.	T	-	2	0	ERICH1	613548	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-3.055000	0.00626	-0.017000	0.14103	-0.507000	0.04495	ACG		0.647	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3		NM_207332	
FIP1L1	81608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	54265975	54265975	+	Missense_Mutation	SNP	T	T	C	rs587778363		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr4:54265975T>C	ENST00000337488.6	+	10	978	c.784T>C	c.(784-786)Tct>Cct	p.S262P	FIP1L1_ENST00000507922.1_Missense_Mutation_p.S247P|FIP1L1_ENST00000507166.1_Missense_Mutation_p.S262P|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S224P|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S247P	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	262	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S262P(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTCCTCCTTCTTTGTTCAA	0.373			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	kidney(1)											155.0	151.0	152.0					4																	54265975		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.784T>C	4.37:g.54265975T>C	ENSP00000336752:p.Ser262Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155453	0.38021	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.38	5.38	0.77491	.	0.078525	0.53938	D	0.000043	T	0.38295	0.1035	L	0.34521	1.04	0.46901	D	0.999242	B;B;B;B;B;B	0.18741	0.005;0.03;0.003;0.001;0.005;0.016	B;B;B;B;B;B	0.21151	0.009;0.03;0.004;0.003;0.006;0.033	T	0.25187	-1.0139	10	0.26408	T	0.33	-21.4918	7.4863	0.27435	0.0:0.0766:0.1555:0.7679	.	247;66;247;224;262;247	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	P	262;247;247;224;262	ENSP00000336752:S262P;ENSP00000351383:S247P;ENSP00000425456:S247P;ENSP00000302993:S224P;ENSP00000423325:S262P	ENSP00000302993:S224P	S	+	1	0	FIP1L1	53960732	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.668000	0.46816	2.168000	0.68352	0.533000	0.62120	TCT		0.373	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917	
ARHGAP35	2909	broad.mit.edu;hgsc.bcm.edu	37	19	47422608	47422608	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr19:47422608G>A	ENST00000404338.3	+	1	676	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	226					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.V226M(2)									CCTCCAGGTTGTGGAGACCTC	0.443																																																	2	Substitution - Missense(2)	kidney(2)											95.0	95.0	95.0					19																	47422608		1917	4131	6048	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.676G>A	19.37:g.47422608G>A	ENSP00000385720:p.Val226Met	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952263	0.53293	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.81078	-1.45	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	N	0.13327	0.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.85693	0.1308	10	0.87932	D	0	-26.5619	18.9906	0.92789	0.0:0.0:1.0:0.0	.	226	Q9NRY4-2	.	M	226	ENSP00000385720:V226M	ENSP00000324820:V226M	V	+	1	0	ARHGAP35	52114448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.781000	0.75068	2.780000	0.95670	0.655000	0.94253	GTG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491	
GRM5	2915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88330476	88330476	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:88330476T>G	ENST00000305447.4	-	5	1588	c.1439A>C	c.(1438-1440)gAt>gCt	p.D480A	GRM5_ENST00000418177.2_Missense_Mutation_p.D480A|GRM5_ENST00000455756.2_Missense_Mutation_p.D480A|GRM5_ENST00000305432.5_Missense_Mutation_p.D480A|GRM5_ENST00000393297.1_Missense_Mutation_p.D480A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	480					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D480A(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GTTGATATAATCAAAGTAATC	0.323																																																	2	Substitution - Missense(2)	kidney(2)											137.0	119.0	125.0					11																	88330476		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1439A>C	11.37:g.88330476T>G	ENSP00000306138:p.Asp480Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199592	0.38806	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.4	5.4	0.78164	.	0.149940	0.64402	D	0.000013	D	0.82440	0.5037	L	0.58810	1.83	0.45005	D	0.99802	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.77713	-0.2485	9	.	.	.	.	15.4159	0.74966	0.0:0.0:0.0:1.0	.	480;480	P41594-2;P41594	.;GRM5_HUMAN	A	480	ENSP00000402912:D480A;ENSP00000405690:D480A;ENSP00000305905:D480A;ENSP00000306138:D480A;ENSP00000376975:D480A	.	D	-	2	0	GRM5	87970124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.836000	0.62789	2.053000	0.61076	0.528000	0.53228	GAT		0.323	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842	
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118925901	118925901	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:118925901T>A	ENST00000404233.3	-	5	539	c.415A>T	c.(415-417)Agc>Tgc	p.S139C	HYOU1_ENST00000543287.1_Missense_Mutation_p.S52C|HYOU1_ENST00000529972.1_Missense_Mutation_p.S139C|HYOU1_ENST00000525859.1_Missense_Mutation_p.S139C	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	139					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.S139C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTCACGAGCTGATCTGAAAG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											105.0	94.0	97.0					11																	118925901		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.415A>T	11.37:g.118925901T>A	ENSP00000384144:p.Ser139Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491758	0.84962	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.03982	5.41;5.41;5.41;3.74;5.41	5.55	5.55	0.83447	.	0.092964	0.85682	D	0.000000	T	0.17874	0.0429	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.986;0.994;0.994	T	0.00198	-1.1929	10	0.66056	D	0.02	.	9.355	0.38161	0.2708:0.0:0.0:0.7292	.	130;183;139;139	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	C	139;130;139;139;139;139;182;52;139	ENSP00000384144:S139C;ENSP00000437313:S139C;ENSP00000433397:S139C;ENSP00000442727:S52C;ENSP00000431874:S139C	ENSP00000278752:S130C	S	-	1	0	HYOU1	118431111	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	2.673000	0.46858	2.098000	0.63641	0.459000	0.35465	AGC		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1		NM_006389	
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107605113	107605113	+	Nonsense_Mutation	SNP	G	G	A	rs375014512		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr7:107605113G>A	ENST00000222399.6	-	14	1812	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	LAMB1_ENST00000393561.1_Nonsense_Mutation_p.Q552*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.Q528*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	528	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.Q528*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATGAGCACTGGCCTGACTCC	0.557																																																	1	Substitution - Nonsense(1)	kidney(1)						G	stop/GLN	0,4406		0,0,2203	92.0	75.0	81.0		1582	4.6	1.0	7		81	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	LAMB1	NM_002291.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		528/1787	107605113	1,13005	2203	4300	6503	SO:0001587	stop_gained	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1582C>T	7.37:g.107605113G>A	ENSP00000222399:p.Gln528*	Somatic		WXS	Illumina HiSeq	Phase_I	Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	41	8.744884	0.98937	0.0	1.16E-4	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.501	0.87732	0.0:0.0:1.0:0.0	.	.	.	.	X	552;528;528	.	ENSP00000222399:Q528X	Q	-	1	0	LAMB1	107392349	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.435000	0.97529	2.129000	0.65627	0.563000	0.77884	CAG		0.557	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291	
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133942552	133942552	+	Silent	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:133942552C>T	ENST00000361069.4	+	14	2686	c.2553C>T	c.(2551-2553)taC>taT	p.Y851Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	851	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.Y851Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGGCTTCTACGGGAGCGCCC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	87.0	91.0					9																	133942552		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2553C>T	9.37:g.133942552C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059	
LRFN2	57497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	40400076	40400076	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:40400076G>C	ENST00000338305.6	-	2	1319	c.777C>G	c.(775-777)gaC>gaG	p.D259E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	259	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D259E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGTCATCGTCCCGCTCGA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											33.0	36.0	35.0					6																	40400076		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.777C>G	6.37:g.40400076G>C	ENSP00000345985:p.Asp259Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.251187	0.00268	.	.	ENSG00000156564	ENST00000338305	T	0.02323	4.34	5.42	-9.56	0.00566	Cysteine-rich flanking region, C-terminal (1);	0.297933	0.41938	N	0.000796	T	0.00178	0.0005	N	0.00500	-1.43	0.29757	N	0.835864	B	0.06786	0.001	B	0.09377	0.004	T	0.28744	-1.0034	10	0.02654	T	1	.	5.8941	0.18929	0.3763:0.4418:0.0986:0.0833	.	259	Q9ULH4	LRFN2_HUMAN	E	259	ENSP00000345985:D259E	ENSP00000345985:D259E	D	-	3	2	LRFN2	40508054	0.000000	0.05858	0.532000	0.27989	0.332000	0.28634	-1.818000	0.01717	-1.523000	0.01767	-1.008000	0.02478	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141812722	141812722	+	Silent	SNP	A	A	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:141812722A>T	ENST00000389484.3	-	10	2486	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	505	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T505T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTGAAGCCAGTCCTGCAGC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - coding silent(1)	kidney(1)											114.0	98.0	104.0					2																	141812722		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1515T>A	2.37:g.141812722A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MADD	8567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47306055	47306055	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:47306055G>A	ENST00000311027.5	+	12	2261	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	MADD_ENST00000349238.3_Missense_Mutation_p.R699H|MADD_ENST00000395336.3_Missense_Mutation_p.R699H|MADD_ENST00000402799.1_Missense_Mutation_p.R699H|MADD_ENST00000395344.3_Missense_Mutation_p.R699H|MADD_ENST00000402192.2_Missense_Mutation_p.R699H|MADD_ENST00000406482.1_Missense_Mutation_p.R699H|MADD_ENST00000342922.4_Missense_Mutation_p.R699H|MADD_ENST00000407859.3_Missense_Mutation_p.R699H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.R699H(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCCCACTGCGCTCCAGCTCT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											59.0	64.0	62.0					11																	47306055		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2096G>A	11.37:g.47306055G>A	ENSP00000310933:p.Arg699His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587544	0.86851	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06449	3.33;3.35;3.35;3.37;3.39;3.3;3.34;3.39;3.33	5.96	3.04	0.35103	.	0.196702	0.56097	N	0.000030	T	0.17195	0.0413	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.964;0.996;0.999;0.97;0.985;0.998;0.999;0.998;0.991;0.998	T	0.02053	-1.1222	10	0.25751	T	0.34	-3.3904	8.567	0.33545	0.1308:0.0:0.7432:0.126	.	699;699;699;699;699;699;699;699;699;699	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	699	ENSP00000343902:R699H;ENSP00000385585:R699H;ENSP00000384435:R699H;ENSP00000304505:R699H;ENSP00000310933:R699H;ENSP00000384204:R699H;ENSP00000378753:R699H;ENSP00000378745:R699H;ENSP00000384287:R699H	ENSP00000310933:R699H	R	+	2	0	MADD	47262631	1.000000	0.71417	0.782000	0.31804	0.993000	0.82548	3.263000	0.51546	0.396000	0.25283	0.655000	0.94253	CGC		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			
MCF2L2	23101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182897463	182897463	+	Silent	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:182897463C>T	ENST00000328913.3	-	29	3420	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Silent_p.Q1041Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1041							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1041Q(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTCGTCCGACTGGAAAAGGC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	85.0	83.0					3																	182897463		2203	4300	6503	SO:0001819	synonymous_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3123G>A	3.37:g.182897463C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.592	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078	
MLEC	9761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121132708	121132708	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:121132708G>A	ENST00000228506.3	+	3	924	c.496G>A	c.(496-498)Gat>Aat	p.D166N	MLEC_ENST00000412616.2_Intron|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	166					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.D166N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CACAGCTCACGATGAAATTAT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											193.0	183.0	186.0					12																	121132708		2203	4300	6503	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.496G>A	12.37:g.121132708G>A	ENSP00000228506:p.Asp166Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000228506.3	37	CCDS9206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.467100|5.467100	0.96257|0.96257	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000228506;ENST00000545525|ENST00000535656	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Malectin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84986|0.84986	0.5594|0.5594	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	D|D	0.86687|0.86687	0.1920|0.1920	9|5	0.38643|.	T|.	0.18|.	.|.	19.6371|19.6371	0.95737|0.95737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166|.	Q14165|.	MLEC_HUMAN|.	N|Q	166;83|62	.|.	ENSP00000228506:D166N|.	D|R	+|+	1|2	0|0	MLEC|MLEC	119617091|119617091	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	9.403000|9.403000	0.97302|0.97302	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.453	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2		NM_014730	
MSR1	4481	broad.mit.edu;hgsc.bcm.edu	37	8	16021600	16021600	+	Missense_Mutation	SNP	G	G	T	rs143967440		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:16021600G>T	ENST00000262101.5	-	5	912	c.791C>A	c.(790-792)aCc>aAc	p.T264N	MSR1_ENST00000381998.4_Missense_Mutation_p.T264N|MSR1_ENST00000350896.3_Missense_Mutation_p.T264N|MSR1_ENST00000355282.2_Missense_Mutation_p.T264N|MSR1_ENST00000445506.2_Missense_Mutation_p.T282N|MSR1_ENST00000536385.1_Missense_Mutation_p.T38N			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	264					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.T264N(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTCTCAAGGTCTGAGAATG	0.308																																																	2	Substitution - Missense(2)	kidney(2)											154.0	138.0	144.0					8																	16021600		2202	4297	6499	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.791C>A	8.37:g.16021600G>T	ENSP00000262101:p.Thr264Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097158	0.56075	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.94232	-3.38;-1.59;-1.59;-3.38;-2.68;-3.38;-2.85	4.8	4.8	0.61643	Macrophage scavenger receptor (1);	0.102025	0.44097	D	0.000494	D	0.95370	0.8497	M	0.65975	2.015	0.27571	N	0.949882	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.9;0.997;0.984;0.997;0.946	D	0.89837	0.4000	10	0.66056	D	0.02	.	9.7225	0.40311	0.0961:0.0:0.9039:0.0	.	38;282;264;264;264	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	N	264;264;282;264;54;264;38	ENSP00000262100:T264N;ENSP00000262101:T264N;ENSP00000405453:T282N;ENSP00000347430:T264N;ENSP00000430536:T54N;ENSP00000371428:T264N;ENSP00000444414:T38N	ENSP00000262101:T264N	T	-	2	0	MSR1	16065971	0.964000	0.33143	0.957000	0.39632	0.809000	0.45718	2.752000	0.47516	2.596000	0.87737	0.655000	0.94253	ACC		0.308	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			
NCAM2	4685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	22664427	22664427	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr21:22664427G>C	ENST00000400546.1	+	5	734	c.485G>C	c.(484-486)cGg>cCg	p.R162P	NCAM2_ENST00000535285.1_Missense_Mutation_p.R187P|NCAM2_ENST00000284894.7_Missense_Mutation_p.R20P|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	162	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R162P(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTCCAGATCGGTTCGCTATG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											122.0	112.0	115.0					21																	22664427		1849	4100	5949	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.485G>C	21.37:g.22664427G>C	ENSP00000383392:p.Arg162Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526310	0.85600	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.81078	1.04;-1.45;1.04	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74674	0.973;0.984;0.982	D	0.94240	0.7484	10	0.87932	D	0	-11.846	18.2691	0.90062	0.0:0.0:1.0:0.0	.	187;20;162	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	P	162;20;187	ENSP00000383392:R162P;ENSP00000284894:R20P;ENSP00000441887:R187P	ENSP00000284894:R20P	R	+	2	0	NCAM2	21586298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.205000	0.95048	2.733000	0.93635	0.655000	0.94253	CGG		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1		NM_004540	
NCKAP5	344148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	133539879	133539879	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:133539879G>T	ENST00000409261.1	-	14	4878	c.4505C>A	c.(4504-4506)cCt>cAt	p.P1502H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1502H|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1502								p.P1502H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAAGGCCCAGGCTTCTGCTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											70.0	70.0	70.0					2																	133539879		1849	4088	5937	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4505C>A	2.37:g.133539879G>T	ENSP00000387128:p.Pro1502His	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469389	0.43839	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09817	2.94;2.94	5.55	4.66	0.58398	.	0.459267	0.15501	U	0.259033	T	0.12603	0.0306	N	0.24115	0.695	0.80722	D	1	P	0.47484	0.896	P	0.48815	0.591	T	0.02104	-1.1213	10	0.56958	D	0.05	.	13.3151	0.60403	0.0743:0.0:0.9257:0.0	.	1502	O14513	NCKP5_HUMAN	H	1502	ENSP00000387128:P1502H;ENSP00000380603:P1502H	ENSP00000380603:P1502H	P	-	2	0	NCKAP5	133256349	1.000000	0.71417	0.133000	0.22050	0.532000	0.34746	6.539000	0.73856	2.894000	0.99253	0.591000	0.81541	CCT		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481	
NLGN1	22871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	173998403	173998403	+	Silent	SNP	T	T	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:173998403T>G	ENST00000457714.1	+	7	2211	c.1782T>G	c.(1780-1782)gtT>gtG	p.V594V	NLGN1_ENST00000361589.4_Silent_p.V594V|NLGN1_ENST00000401917.3_Silent_p.V634V|NLGN1_ENST00000545397.1_Silent_p.V594V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	611					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.V594V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AACCAAGAGTTAAAGAACATT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	106.0	106.0					3																	173998403		2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1782T>G	3.37:g.173998403T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																				0.378	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3		NM_014932	
NUP133	55746	broad.mit.edu;hgsc.bcm.edu	37	1	229643913	229643913	+	Silent	SNP	C	C	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:229643913C>G	ENST00000261396.3	-	1	175	c.84G>C	c.(82-84)acG>acC	p.T28T	RP4-613A2.1_ENST00000417605.1_RNA|NUP133_ENST00000366678.3_Silent_p.T28T|NUP133_ENST00000537506.1_Silent_p.T12T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	28					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.T28T(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCGTCCGGGGCGTGGAGCCGG	0.726																																																	1	Substitution - coding silent(1)	kidney(1)											7.0	9.0	8.0					1																	229643913		2154	4227	6381	SO:0001819	synonymous_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.84G>C	1.37:g.229643913C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.726	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1		NM_018230	
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51656133	51656133	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:51656133T>C	ENST00000371117.3	-	53	8616	c.8341A>G	c.(8341-8343)Aaa>Gaa	p.K2781E	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2781E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2781	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K2781E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACAGCCCTTTGAAGAATGGA	0.443																																																	2	Substitution - Missense(2)	kidney(2)											133.0	111.0	118.0					6																	51656133		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8341A>G	6.37:g.51656133T>C	ENSP00000360158:p.Lys2781Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.514	0.463089	0.12402	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89196	-2.48;-2.48	5.68	3.2	0.36748	G8 domain (2);	0.637544	0.15998	N	0.234461	T	0.64516	0.2605	L	0.47716	1.5	0.19575	N	0.999962	P;B;P	0.43231	0.801;0.43;0.801	B;B;B	0.38378	0.138;0.079;0.272	T	0.63161	-0.6699	10	0.02654	T	1	.	7.0767	0.25209	0.0:0.0727:0.2584:0.6688	.	2781;2781;2781	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	E	2781	ENSP00000360158:K2781E;ENSP00000341097:K2781E	ENSP00000341097:K2781E	K	-	1	0	PKHD1	51764092	1.000000	0.71417	0.370000	0.25965	0.208000	0.24298	2.098000	0.41757	0.384000	0.24942	0.533000	0.62120	AAA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
LZTS3	9762	broad.mit.edu;hgsc.bcm.edu	37	20	3146916	3146916	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr20:3146916T>A	ENST00000329152.3	-	2	1947	c.550A>T	c.(550-552)Aat>Tat	p.N184Y	LZTS3_ENST00000337576.5_Missense_Mutation_p.N184Y|LZTS3_ENST00000360342.3_Missense_Mutation_p.N184Y			O60299	LZTS3_HUMAN		184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.N184Y(1)									GGAGTCCCATTGGTCTGCGGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											39.0	42.0	41.0					20																	3146916		2203	4300	6503	SO:0001583	missense	0																														ENST00000329152.3:c.550A>T	20.37:g.3146916T>A	ENSP00000332123:p.Asn184Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002072	0.74932	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.34275	1.41;1.37;1.37	5.26	5.26	0.73747	.	0.265230	0.43416	D	0.000565	T	0.37265	0.0997	L	0.48642	1.525	0.46416	D	0.999033	P;P	0.49447	0.924;0.875	P;B	0.44772	0.46;0.271	T	0.13019	-1.0525	10	0.37606	T	0.19	-22.7097	15.1738	0.72896	0.0:0.0:0.0:1.0	.	184;184	O60299-2;O60299	.;PRIP1_HUMAN	Y	184	ENSP00000332123:N184Y;ENSP00000353496:N184Y;ENSP00000338166:N184Y	ENSP00000332123:N184Y	N	-	1	0	RP5-1187M17.10	3094916	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.068000	0.50018	1.984000	0.57885	0.459000	0.35465	AAT		0.607	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			
RIMS2	9699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104709441	104709441	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:104709441G>C	ENST00000406091.3	+	2	304	c.304G>C	c.(304-306)Gat>Cat	p.D102H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	133	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.D102H(1)|p.D138H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTTTGCTGATGGATGTGG	0.433										HNSCC(12;0.0054)																																							2	Substitution - Missense(2)	kidney(2)											179.0	179.0	179.0					8																	104709441		1995	4172	6167	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.304G>C	8.37:g.104709441G>C	ENSP00000384892:p.Asp102His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939389	0.92526	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.37752	1.18;1.18	5.57	5.57	0.84162	.	.	.	.	.	T	0.68641	0.3023	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74665	-0.3589	9	0.87932	D	0	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	102	F8WD47	.	H	102;133;102;133	ENSP00000427018:D102H;ENSP00000384892:D102H	ENSP00000332184:D133H	D	+	1	0	RIMS2	104778617	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.865000	0.99609	2.623000	0.88846	0.556000	0.70494	GAT		0.433	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001100117	
SLC16A5	9121	broad.mit.edu;hgsc.bcm.edu	37	17	73096901	73096901	+	Silent	SNP	A	A	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr17:73096901A>T	ENST00000450736.2	+	4	1558	c.1143A>T	c.(1141-1143)ccA>ccT	p.P381P	SLC16A5_ENST00000580123.1_Silent_p.P381P|SLC16A5_ENST00000538213.2_Silent_p.P421P|SLC16A5_ENST00000329783.4_Silent_p.P381P			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	381					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.P381P(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCATCTCCCCACCACTGGCCG	0.577																																																	2	Substitution - coding silent(2)	kidney(2)											45.0	38.0	40.0					17																	73096901		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1143A>T	17.37:g.73096901A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																				0.577	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1		NM_004695	
SLC39A12	221074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	18250701	18250701	+	Silent	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr10:18250701G>A	ENST00000377369.2	+	3	726	c.453G>A	c.(451-453)agG>agA	p.R151R	SLC39A12_ENST00000539911.1_Silent_p.R17R|SLC39A12_ENST00000377374.4_Silent_p.R151R|SLC39A12_ENST00000377371.3_Silent_p.R151R	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	151					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.R151R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGAGCCTCAGGCAGGATGAAG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	83.0	82.0					10																	18250701		2203	4300	6503	SO:0001819	synonymous_variant	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.453G>A	10.37:g.18250701G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	CCDS44362.1																																																																																				0.398	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725	
ST8SIA1	6489	hgsc.bcm.edu	37	12	22354703	22354703	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:22354703C>T	ENST00000396037.4	-	5	1335	c.854G>A	c.(853-855)gGt>gAt	p.G285D	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.G142D	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	285					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.G285D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGACCCAGAGCTGC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											64.0	66.0	65.0					12																	22354703		2203	4300	6503	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.854G>A	12.37:g.22354703C>T	ENSP00000379353:p.Gly285Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267353	0.59540	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	0.148139	0.64402	D	0.000010	T	0.52773	0.1755	M	0.80847	2.515	0.54753	D	0.999986	D;B	0.69078	0.997;0.157	P;B	0.61132	0.884;0.102	T	0.45234	-0.9275	10	0.22706	T	0.39	-21.6151	15.7112	0.77629	0.0:0.864:0.136:0.0	.	142;285	G3V1U7;Q92185	.;SIA8A_HUMAN	D	285;142	ENSP00000379353:G285D;ENSP00000446363:G142D	ENSP00000379353:G285D	G	-	2	0	ST8SIA1	22245970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.925000	0.63425	2.861000	0.98227	0.655000	0.94253	GGT		0.507	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2		NM_003034	
SLC41A2	84102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105282811	105282811	+	Splice_Site	SNP	C	C	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:105282811C>G	ENST00000258538.3	-	4	1007	c.880G>C	c.(880-882)Gga>Cga	p.G294R		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	294					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.G211R(1)|p.G294R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATTCACTTACCCTGCAGAAGA	0.333																																					Esophageal Squamous(195;176 2919 4272 35572)												2	Substitution - Missense(2)	kidney(2)											92.0	96.0	95.0					12																	105282811		2203	4300	6503	SO:0001630	splice_region_variant	84102			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.880+1G>C	12.37:g.105282811C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	CCDS9100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.138396|5.138396	0.94560|0.94560	.|.	.|.	ENSG00000136052|ENSG00000136052	ENST00000258538|ENST00000437220	T|.	0.31510|.	1.49|.	5.55|5.55	5.55|5.55	0.83447|0.83447	MgtE magnesium transporter, integral membrane (1);|.	0.050399|.	0.85682|.	D|.	0.000000|.	D|D	0.86343|0.86343	0.5910|0.5910	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.88672|0.88672	0.3196|0.3196	9|5	.|.	.|.	.|.	-1.4969|-1.4969	19.4866|19.4866	0.95032|0.95032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294|.	Q96JW4|.	S41A2_HUMAN|.	R|S	294|149	ENSP00000258538:G294R|.	.|.	G|R	-|-	1|3	0|2	SLC41A2|SLC41A2	103806941|103806941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.296000|7.296000	0.78790|0.78790	2.612000|2.612000	0.88384|0.88384	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.333	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3		NM_032148	Missense_Mutation
STAC2	342667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37369246	37369246	+	Splice_Site	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr17:37369246A>C	ENST00000333461.5	-	10	1501		c.e10+1			NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.?(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCAGGCACTCACCTGGTTCTC	0.632																																																	1	Unknown(1)	kidney(1)											71.0	68.0	69.0					17																	37369246		2203	4300	6503	SO:0001630	splice_region_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1131+1T>G	17.37:g.37369246A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934005	0.73442	.	.	ENSG00000141750	ENST00000333461	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7212	0.62728	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAC2	34622772	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.382000	0.59594	1.896000	0.54893	0.260000	0.18958	.		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2		NM_198993	Intron
TCN2	6948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31018990	31018990	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr22:31018990T>A	ENST00000215838.3	+	8	1636	c.1142T>A	c.(1141-1143)tTa>tAa	p.L381*	TCN2_ENST00000407817.3_Nonsense_Mutation_p.L354*|TCN2_ENST00000405742.3_Nonsense_Mutation_p.L377*			P20062	TCO2_HUMAN	transcobalamin II	381					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.L381*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCCCTACTTAACCTCCGTG	0.562																																																	1	Substitution - Nonsense(1)	kidney(1)											96.0	88.0	91.0					22																	31018990		2203	4300	6503	SO:0001587	stop_gained	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1142T>A	22.37:g.31018990T>A	ENSP00000215838:p.Leu381*	Somatic		WXS	Illumina HiSeq	Phase_I	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265672	0.80358	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6794	13.1541	0.59508	0.0:0.0:0.0:1.0	.	.	.	.	X	381;377;354	.	ENSP00000215838:L381X	L	+	2	0	TCN2	29348990	0.972000	0.33761	1.000000	0.80357	0.266000	0.26442	4.319000	0.59197	2.097000	0.63578	0.477000	0.44152	TTA		0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2		NM_000355	
TGM5	9333	broad.mit.edu;hgsc.bcm.edu	37	15	43533161	43533161	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr15:43533161C>A	ENST00000220420.5	-	7	897	c.890G>T	c.(889-891)cGt>cTt	p.R297L	TGM5_ENST00000349114.4_Missense_Mutation_p.R215L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	297					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R297L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTGATCACACGGGTAGGGAT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											156.0	139.0	145.0					15																	43533161		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.890G>T	15.37:g.43533161C>A	ENSP00000220420:p.Arg297Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938792	0.92526	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.78924	-1.22;-1.22	5.7	4.78	0.61160	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	H	0.96398	3.815	0.41589	D	0.988782	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93502	0.6845	10	0.87932	D	0	-9.2785	12.8505	0.57855	0.0:0.9201:0.0:0.0799	.	215;297	O43548-2;O43548	.;TGM5_HUMAN	L	297;215;296	ENSP00000220420:R297L;ENSP00000220419:R215L	ENSP00000220420:R297L	R	-	2	0	TGM5	41320453	1.000000	0.71417	0.870000	0.34147	0.995000	0.86356	6.087000	0.71362	1.404000	0.46819	0.655000	0.94253	CGT		0.478	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245	
UBE4B	10277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10163061	10163061	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:10163061A>C	ENST00000253251.8	+	5	1330	c.491A>C	c.(490-492)aAg>aCg	p.K164T	UBE4B_ENST00000343090.6_Missense_Mutation_p.K164T|UBE4B_ENST00000377157.3_Missense_Mutation_p.K48T					ubiquitination factor E4B									p.K164T(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGGTCTGTAAGATCTTCCGT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											106.0	99.0	102.0					1																	10163061		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.491A>C	1.37:g.10163061A>C	ENSP00000253251:p.Lys164Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767817	0.69878	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.60299	0.35;0.42;0.2	5.98	5.98	0.97165	.	0.045001	0.85682	D	0.000000	T	0.53286	0.1787	L	0.39898	1.24	0.38877	D	0.956826	P;P	0.52316	0.952;0.59	B;B	0.42798	0.398;0.282	T	0.61850	-0.6978	10	0.72032	D	0.01	-29.8708	16.4781	0.84144	1.0:0.0:0.0:0.0	.	164;164	O95155;O95155-2	UBE4B_HUMAN;.	T	164;48;164	ENSP00000253251:K164T;ENSP00000366362:K48T;ENSP00000343001:K164T	ENSP00000253251:K164T	K	+	2	0	UBE4B	10085648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.957000	0.70323	2.288000	0.76882	0.528000	0.53228	AAG		0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1		NM_006048	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188290	10188290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:10188290C>T	ENST00000256474.2	+	2	1273	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	145	Involved in binding to CCT complex.		Q -> H (in VHLD).		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.Q145*(2)|p.Q145fs*12(1)|p.G144fs*14(1)|p.S139fs*12(1)|p.G144fs*19(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)		TGTTGACGGACAGCCTATTTT	0.418		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	6	Deletion - Frameshift(4)|Substitution - Nonsense(2)	kidney(6)	GRCh37	CM994243	VHL	M							217.0	201.0	206.0					3																	10188290		2203	4300	6503	SO:0001587	stop_gained	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.433C>T	3.37:g.10188290C>T	ENSP00000256474:p.Gln145*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	43	10.345298	0.99388	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	0.262110	0.33591	N	0.004751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-29.4808	16.3181	0.82935	0.0:1.0:0.0:0.0	.	.	.	.	X	145;63	.	ENSP00000256474:Q145X	Q	+	1	0	VHL	10163290	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.592000	0.36676	2.530000	0.85305	0.563000	0.77884	CAG		0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98804531	98804531	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:98804531A>G	ENST00000477737.1	+	10	1609	c.1405A>G	c.(1405-1407)Aaa>Gaa	p.K469E	VWA3B_ENST00000435344.1_Missense_Mutation_p.K469E|VWA3B_ENST00000451075.2_Missense_Mutation_p.K319E	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	469								p.K469E(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAACATTACCAAAGAGAAGTG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											124.0	127.0	126.0					2																	98804531		1986	4160	6146	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1405A>G	2.37:g.98804531A>G	ENSP00000417955:p.Lys469Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	0.711	-0.787253	0.02907	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.21734	1.99;3.42;2.52	4.76	3.42	0.39159	.	0.247257	0.28465	N	0.015255	T	0.13500	0.0327	L	0.56769	1.78	0.20489	N	0.999894	B;P;B	0.50156	0.158;0.932;0.291	B;B;B	0.35931	0.046;0.214;0.143	T	0.13548	-1.0505	10	0.11182	T	0.66	.	5.8083	0.18452	0.7947:0.0:0.2053:0.0	.	319;469;469	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	E	469;469;319	ENSP00000401959:K469E;ENSP00000417955:K469E;ENSP00000389463:K319E	ENSP00000388158:K469E	K	+	1	0	VWA3B	98170963	0.989000	0.36119	1.000000	0.80357	0.217000	0.24651	1.514000	0.35834	1.892000	0.54788	0.377000	0.23210	AAA		0.502	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992	
ANXA2P3	305	broad.mit.edu	37	10	66586119	66586119	+	IGR	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr10:66586119G>T								RP11-174J11.1 (789079 upstream) : RP11-179K3.2 (74774 downstream)																							TTCAGAACAAGCCCCTGTATT	0.498																																																	0																																										SO:0001628	intergenic_variant	305																															10.37:g.66586119G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.498									
ARHGAP11B	89839	broad.mit.edu	37	15	30938483	30938483	+	lincRNA	SNP	T	T	C	rs145453249		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr15:30938483T>C	ENST00000602684.1	+	0	0																											CCACCAGGCTTCTCCTTTCCC	0.463																																																	0																																												89839																															15.37:g.30938483T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000602684.1	37																																																																																					0.463	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1			
SAPCD2	89958	broad.mit.edu	37	9	139959180	139959180	+	Silent	SNP	A	A	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:139959180A>G	ENST00000409687.3	-	6	1243	c.1116T>C	c.(1114-1116)atT>atC	p.I372I	RP11-229P13.22_ENST00000435463.2_RNA|RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	372						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.I367I(1)									ACAGCTGCTTAATGAGCGCCG	0.652											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											41.0	38.0	39.0					9																	139959180		2192	4292	6484	SO:0001819	synonymous_variant	0			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1116T>C	9.37:g.139959180A>G		Somatic	1652	WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000409687.3	37	CCDS7027.2																																																																																				0.652	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2		NM_178448	
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)												8	Substitution - Missense(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)											54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588	
GGT3P	2679	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T	rs200601572		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr22:18778601C>T	ENST00000412448.1	-	0	804							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCTTGGCATCCGCGGCCACGG	0.627																																																	0																																												2679					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778601C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000412448.1	37																																																																																					0.627	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1		NR_003267	
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chrX:130409627G>T	ENST00000361420.3	-	16	3088	c.3009C>A	c.(3007-3009)caC>caA	p.H1003Q	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527																																																	2	Substitution - Missense(2)	kidney(2)											113.0	98.0	103.0					X																	130409627		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3009C>A	X.37:g.130409627G>T	ENSP00000355010:p.His1003Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901242	0.33535	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.32	2.45	0.29901	Immunoglobulin-like fold (1);	0.341686	0.22142	N	0.064031	T	0.22820	0.0551	L	0.60455	1.87	0.26862	N	0.967927	D;P;D	0.63880	0.993;0.563;0.987	D;B;D	0.75020	0.972;0.387;0.985	T	0.03957	-1.0989	10	0.38643	T	0.18	.	6.9963	0.24784	0.096:0.3263:0.5777:0.0	.	994;447;1003	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	994;1003;994;1008	ENSP00000359947:H994Q;ENSP00000355010:H1003Q;ENSP00000359941:H994Q;ENSP00000359940:H1008Q	ENSP00000355010:H1003Q	H	-	3	2	IGSF1	130237308	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	0.669000	0.25142	0.242000	0.21303	0.600000	0.82982	CAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			
IKBKE	9641	broad.mit.edu	37	1	206649530	206649530	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:206649530G>A	ENST00000367120.3	+	6	738	c.365G>A	c.(364-366)gGc>gAc	p.G122D	IKBKE_ENST00000537984.1_Missense_Mutation_p.G37D	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.G122D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTGGCCGGCATGAACCAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											58.0	52.0	54.0					1																	206649530		2203	4300	6503	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.365G>A	1.37:g.206649530G>A	ENSP00000356087:p.Gly122Asp	Somatic		WXS	Illumina GAIIx	Phase_I	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748348	0.89663	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.59906	0.23;1.13	5.41	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	H	0.98295	4.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.91713	0.5383	10	0.87932	D	0	.	16.4035	0.83650	0.0:0.132:0.868:0.0	.	37;122	Q3B754;Q14164	.;IKKE_HUMAN	D	122;37	ENSP00000356087:G122D;ENSP00000444529:G37D	ENSP00000356087:G122D	G	+	2	0	IKBKE	204716153	1.000000	0.71417	0.995000	0.50966	0.847000	0.48162	9.805000	0.99149	1.389000	0.46526	0.491000	0.48974	GGC		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																																	0																																												0																															13.37:g.25168432T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000453498.1	37																																																																																					0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635																0																																												96610					22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000426066.1	37																																																																																					0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			
SSPO	23145	broad.mit.edu	37	7	149486279	149486279	+	RNA	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr7:149486279G>A	ENST00000378016.2	+	0	4255							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGGGGAGGGGCAGATGAC	0.662																																																	0													18.0	21.0	20.0					7																	149486279		2136	4246	6382			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486279G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
TUBB2B	347733	broad.mit.edu	37	6	3227737	3227737	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:3227737T>C	ENST00000259818.7	-	1	232	c.41A>G	c.(40-42)aAc>aGc	p.N14S	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	14					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.N14S(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCCGATCTGGTTGCCGCACTG	0.731																																																	1	Substitution - Missense(1)	kidney(1)											40.0	41.0	40.0					6																	3227737		2200	4299	6499	SO:0001583	missense	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.41A>G	6.37:g.3227737T>C	ENSP00000259818:p.Asn14Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119422	0.56505	.	.	ENSG00000137285	ENST00000259818	T	0.74421	-0.84	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.208195	0.32769	N	0.005662	T	0.79118	0.4392	H	0.96833	3.89	0.58432	D	0.999999	B;B	0.26672	0.031;0.156	B;B	0.31946	0.067;0.138	D	0.84119	0.0405	10	0.87932	D	0	.	13.9792	0.64295	0.0:0.0:0.0:1.0	.	14;14	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	S	14	ENSP00000259818:N14S	ENSP00000259818:N14S	N	-	2	0	TUBB2B	3172736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.844000	0.69430	1.947000	0.56498	0.459000	0.35465	AAC		0.731	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2		NM_178012	
