#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AASS	10157	broad.mit.edu;bcgsc.ca	37	7	121726206	121726206	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr7:121726206A>G	ENST00000393376.1	-	18	2139	c.2044T>C	c.(2044-2046)Ttt>Ctt	p.F682L	AASS_ENST00000417368.2_Missense_Mutation_p.F682L|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	682	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCATCAAGAAAGGAGATGCCT	0.418																																					p.F682L		.											.	AASS	92	0			c.T2044C						.						66.0	64.0	65.0					7																	121726206		2203	4300	6503	SO:0001583	missense	10157	exon19			CAAGAAAGGAGAT	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2044T>C	7.37:g.121726206A>G	ENSP00000377040:p.Phe682Leu	99.0	1.0		71.0	4.0	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	A	7.207	0.594737	0.13875	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.39592	1.07;1.07	6.08	6.08	0.98989	.	0.053321	0.85682	D	0.000000	T	0.11665	0.0284	N	0.00224	-1.81	0.37614	D	0.921046	B	0.02656	0.0	B	0.06405	0.002	T	0.40021	-0.9585	10	0.02654	T	1	-27.8201	16.3053	0.82846	1.0:0.0:0.0:0.0	.	682	Q9UDR5	AASS_HUMAN	L	682	ENSP00000377040:F682L;ENSP00000403768:F682L	ENSP00000351834:F682L	F	-	1	0	AASS	121513442	1.000000	0.71417	0.997000	0.53966	0.615000	0.37417	4.510000	0.60455	2.333000	0.79357	0.533000	0.62120	TTT	.		0.418	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
ABCG5	64240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	44053584	44053584	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr2:44053584T>G	ENST00000260645.1	-	6	850	c.711A>C	c.(709-711)gaA>gaC	p.E237D	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	237	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCGAGCCAGTTCCACCAGGA	0.532																																					p.E237D		.											.	ABCG5	92	0			c.A711C						.						146.0	126.0	133.0					2																	44053584		2203	4300	6503	SO:0001583	missense	64240	exon6			AGCCAGTTCCACC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.711A>C	2.37:g.44053584T>G	ENSP00000260645:p.Glu237Asp	150.0	0.0		184.0	61.0	NM_022436	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657373	0.29425	.	.	ENSG00000138075	ENST00000260645	T	0.42131	0.98	5.56	2.31	0.28768	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.300661	0.40222	N	0.001146	T	0.25344	0.0616	N	0.20845	0.615	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.02560	-1.1141	10	0.13853	T	0.58	.	9.2504	0.37551	0.0:0.6013:0.0:0.3987	.	237	Q9H222	ABCG5_HUMAN	D	237	ENSP00000260645:E237D	ENSP00000260645:E237D	E	-	3	2	ABCG5	43907088	1.000000	0.71417	0.985000	0.45067	0.195000	0.23768	1.080000	0.30779	0.689000	0.31550	-0.242000	0.12053	GAA	.		0.532	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
ADAMTS10	81794	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T	rs377333794		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr19:8661249C>T	ENST00000597188.1	-	10	1402	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V378I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662																																					p.V378I		.											.	ADAMTS10	229	0			c.G1132A						.	C	ILE/VAL	0,4406		0,0,2203	45.0	37.0	40.0		1132	1.5	1.0	19		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS10	NM_030957.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	378/1104	8661249	1,13005	2203	4300	6503	SO:0001583	missense	81794	exon10			CATTGACGCTGCA	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1132G>A	19.37:g.8661249C>T	ENSP00000471851:p.Val378Ile	42.0	1.0		95.0	24.0	NM_030957	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.899991	0.02472	0.0	1.16E-4	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.66099	-0.19	4.76	1.53	0.23141	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.196839	0.41605	N	0.000854	T	0.23451	0.0567	N	0.01109	-1.01	0.31090	N	0.710905	B;B	0.14805	0.011;0.001	B;B	0.15052	0.012;0.001	T	0.38415	-0.9662	10	0.02654	T	1	.	7.8111	0.29232	0.0:0.2488:0.0:0.7512	.	132;378	Q59FE5;Q9H324	.;ATS10_HUMAN	I	378;132	ENSP00000270328:V378I	ENSP00000270328:V378I	V	-	1	0	ADAMTS10	8567249	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	2.399000	0.44495	0.044000	0.15775	-0.391000	0.06502	GTC	.		0.662	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
ADAMTS7	11173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	79063584	79063584	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr15:79063584C>T	ENST00000388820.4	-	16	2648	c.2438G>A	c.(2437-2439)gGt>gAt	p.G813D	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	813					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCGTGGCCACCTGCCTCCCT	0.652																																					p.G813D		.											.	ADAMTS7	226	0			c.G2438A						.						44.0	33.0	37.0					15																	79063584		2196	4291	6487	SO:0001583	missense	11173	exon16			TGGCCACCTGCCT	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2438G>A	15.37:g.79063584C>T	ENSP00000373472:p.Gly813Asp	142.0	0.0		208.0	39.0	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.568149	0.00133	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.28	-1.88	0.07713	.	0.734180	0.12442	N	0.468536	T	0.14356	0.0347	N	0.00496	-1.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	10	0.02654	T	1	.	1.6689	0.02808	0.1567:0.1053:0.189:0.549	.	813	Q9UKP4	ATS7_HUMAN	D	813	ENSP00000373472:G813D	ENSP00000373472:G813D	G	-	2	0	ADAMTS7	76850639	0.004000	0.15560	0.000000	0.03702	0.019000	0.09904	1.364000	0.34171	-0.341000	0.08376	-0.768000	0.03414	GGT	.		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
AMTN	401138	hgsc.bcm.edu;broad.mit.edu	37	4	71396955	71396955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr4:71396955delC	ENST00000339336.4	+	8	687	c.557delC	c.(556-558)accfs	p.T186fs	AMTN_ENST00000504451.1_Frame_Shift_Del_p.T185fs	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	186					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GCAGTGACCACCCCTGCAGGC	0.552																																					p.T186fs		.											.	AMTN	153	0			c.557delC						.						69.0	56.0	61.0					4																	71396955		2203	4300	6503	SO:0001589	frameshift_variant	401138	exon8			TGACCACCCCTGC	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.557delC	4.37:g.71396955delC	ENSP00000341013:p.Thr186fs	186.0	0.0		202.0	14.0	NM_212557	Q0P503|Q0P506	Frame_Shift_Del	DEL	ENST00000339336.4	37	CCDS3542.1																																																																																			.		0.552	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	
ATP2C2	9914	broad.mit.edu;bcgsc.ca	37	16	84482138	84482138	+	Splice_Site	SNP	G	G	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr16:84482138G>T	ENST00000262429.4	+	17	1592		c.e17-1		ATP2C2_ENST00000420010.2_Splice_Site|ATP2C2_ENST00000416219.2_Splice_Site	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCTTTTCTAAGGATCAGGAAG	0.517																																					.		.											.	ATP2C2	91	0			c.1504-1G>T						.						59.0	61.0	61.0					16																	84482138		1939	4140	6079	SO:0001630	splice_region_variant	9914	exon17			TTCTAAGGATCAG	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1504-1G>T	16.37:g.84482138G>T		127.0	0.0		150.0	7.0	NM_014861	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Splice_Site	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415005	0.42817	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8422	0.46722	0.0867:0.0:0.9133:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2C2	83039639	1.000000	0.71417	0.879000	0.34478	0.488000	0.33401	7.433000	0.80362	2.307000	0.77673	0.561000	0.74099	.	.		0.517	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	Intron
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52437456	52437456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr3:52437456delC	ENST00000460680.1	-	13	2176	c.1705delG	c.(1705-1707)gtgfs	p.V569fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.V551fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGACTCAGCACCCCATCCTCA	0.617			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.V569fs	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	1032	0			c.1705delG						.						60.0	56.0	58.0					3																	52437456		2203	4300	6503	SO:0001589	frameshift_variant	8314	exon13			TCAGCACCCCATC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1705delG	3.37:g.52437456delC	ENSP00000417132:p.Val569fs	47.0	0.0		53.0	19.0	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.617	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
C3orf58	205428	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	143704410	143704410	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr3:143704410C>T	ENST00000315691.3	+	2	1218	c.683C>T	c.(682-684)cCa>cTa	p.P228L	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.P19L	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	228					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAGGTTGGCCATTTGCAAAG	0.378																																					p.P228L		.											.	C3orf58	91	0			c.C683T						.						144.0	144.0	144.0					3																	143704410		2203	4300	6503	SO:0001583	missense	205428	exon2			GTTGGCCATTTGC	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.683C>T	3.37:g.143704410C>T	ENSP00000320081:p.Pro228Leu	233.0	1.0		260.0	70.0	NM_173552	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048628	0.93740	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.44083	0.93	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.955;0.991	T	0.68693	-0.5341	10	0.37606	T	0.19	.	18.8382	0.92171	0.0:1.0:0.0:0.0	.	19;228	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	L	228;19;34	ENSP00000320081:P228L	ENSP00000320081:P228L	P	+	2	0	C3orf58	145187100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.461000	0.83175	0.655000	0.94253	CCA	.		0.378	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
CFAP36	112942	hgsc.bcm.edu;bcgsc.ca	37	2	55772122	55772124	+	In_Frame_Del	DEL	AAG	AAG	-	rs528334905		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr2:55772122_55772124delAAG	ENST00000349456.4	+	10	1155_1157	c.1007_1009delAAG	c.(1006-1011)aaagaa>aaa	p.E338del	CCDC104_ENST00000407816.3_In_Frame_Del_p.E309del|CCDC104_ENST00000339012.3_In_Frame_Del_p.E363del			Q96G28	CFA36_HUMAN		338										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGAAACTCAAAGAAGAAGTTAT	0.286																																					p.336_337del		.											.	CCDC104	91	0			c.1007_1009del						.			3,4253		0,3,2125						5.7	1.0			35	0,8244		0,0,4122	no	coding	CCDC104	NM_080667.5		0,3,6247	A1A1,A1R,RR		0.0,0.0705,0.024				3,12497				SO:0001651	inframe_deletion	112942	exon10			AACTCAAAGAAGA																												ENST00000349456.4:c.1007_1009delAAG	2.37:g.55772128_55772130delAAG	ENSP00000295117:p.Glu338del	446.0	0.0		264.0	59.0	NM_080667	Q53SF0|Q53ST9|Q6UY34	In_Frame_Del	DEL	ENST00000349456.4	37	CCDS1854.2																																																																																			.		0.286	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2		
CD1E	913	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	158325699	158325699	+	Silent	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:158325699C>T	ENST00000368167.3	+	4	947	c.708C>T	c.(706-708)taC>taT	p.Y236Y	CD1E_ENST00000444681.2_Silent_p.Y137Y|CD1E_ENST00000368166.3_Silent_p.Y47Y|CD1E_ENST00000368155.3_Silent_p.Y146Y|CD1E_ENST00000368156.1_Silent_p.Y146Y|CD1E_ENST00000452291.2_Silent_p.Y47Y|CD1E_ENST00000368157.1_Silent_p.Y47Y|CD1E_ENST00000368154.1_Silent_p.Y47Y|CD1E_ENST00000368165.3_Silent_p.Y146Y|CD1E_ENST00000368164.3_Silent_p.Y47Y|CD1E_ENST00000368163.3_Silent_p.Y236Y|CD1E_ENST00000368161.3_Silent_p.Y236Y|CD1E_ENST00000434258.1_Silent_p.Y234Y|CD1E_ENST00000368160.3_Silent_p.Y236Y	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	236	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGGATTCTACCCAAAGCCCG	0.607																																					p.Y236Y		.											.	CD1E	93	0			c.C708T						.						74.0	73.0	74.0					1																	158325699		2203	4298	6501	SO:0001819	synonymous_variant	913	exon4			ATTCTACCCAAAG	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.708C>T	1.37:g.158325699C>T		273.0	0.0		320.0	14.0	NM_001042584	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.193006	0.21954	.	.	ENSG00000158488	ENST00000368162	.	.	.	4.83	0.315	0.15852	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	-10.221	6.8541	0.24030	0.0:0.5054:0.0:0.4946	.	.	.	.	S	6	.	.	P	+	1	0	CD1E	156592323	0.070000	0.21116	0.886000	0.34754	0.996000	0.88848	-0.738000	0.04871	-0.099000	0.12263	0.563000	0.77884	CCC	.		0.607	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
CDH1	999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	68856129	68856129	+	Splice_Site	SNP	G	G	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr16:68856129G>A	ENST00000261769.5	+	12	2127		c.e12+1		CDH1_ENST00000562836.1_Splice_Site|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACGACCCAAGTGGGTACCTG	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												.		.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	.	CDH1	3377	0			c.1936+1G>A						.						72.0	60.0	64.0					16																	68856129		2198	4300	6498	SO:0001630	splice_region_variant	999	exon12	Familial Cancer Database	HDGC	ACCCAAGTGGGTA	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1936+1G>A	16.37:g.68856129G>A		82.0	0.0		89.0	17.0	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025419	0.35701	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4194	0.90584	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67413630	1.000000	0.71417	0.540000	0.28089	0.048000	0.14542	7.958000	0.87877	2.697000	0.92050	0.632000	0.83419	.	.		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Intron
CDK5RAP2	55755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	123177407	123177407	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:123177407C>T	ENST00000349780.4	-	28	4387	c.4208G>A	c.(4207-4209)cGa>cAa	p.R1403Q	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1403Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1371Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1362Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1403					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1403Q(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTCAAAGTTCGAATTTCCTG	0.348																																					p.R1403Q		.											.	CDK5RAP2	229	1	Substitution - Missense(1)	large_intestine(1)	c.G4208A						.						130.0	120.0	123.0					9																	123177407		2203	4300	6503	SO:0001583	missense	55755	exon28			AAAGTTCGAATTT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4208G>A	9.37:g.123177407C>T	ENSP00000343818:p.Arg1403Gln	209.0	0.0		280.0	32.0	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045848	0.93685	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.97	5.97	0.96955	.	0.000000	0.43747	D	0.000528	T	0.60287	0.2257	M	0.64997	1.995	0.42278	D	0.99208	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.998;0.998;0.997	T	0.60326	-0.7285	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	413;1172;1371;1403;1403;797	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	Q	1371;1362;1403;1403;797;413;1175	ENSP00000354065:R1371Q;ENSP00000352258:R1362Q;ENSP00000343818:R1403Q;ENSP00000353317:R1403Q;ENSP00000400395:R797Q;ENSP00000409941:R413Q	ENSP00000341695:R1175Q	R	-	2	0	CDK5RAP2	122217228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.941000	0.70195	2.836000	0.97738	0.655000	0.94253	CGA	.		0.348	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CHPF2	54480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150934562	150934562	+	Missense_Mutation	SNP	G	G	A	rs139379425	byFrequency	TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr7:150934562G>A	ENST00000035307.2	+	4	2627	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.V364M|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	372					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCGCTTTGAGGTGCTGGGCTG	0.637																																					p.V372M		.											.	CHPF2	91	0			c.G1114A						.						81.0	81.0	81.0					7																	150934562		2203	4300	6503	SO:0001583	missense	54480	exon4			TTTGAGGTGCTGG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1114G>A	7.37:g.150934562G>A	ENSP00000035307:p.Val372Met	97.0	0.0		236.0	62.0	NM_019015	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025532	0.75390	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.25579	1.79;1.79	5.63	5.63	0.86233	.	0.058009	0.64402	D	0.000002	T	0.49047	0.1534	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.925	T	0.45381	-0.9265	10	0.62326	D	0.03	-22.7659	14.3202	0.66482	0.0:0.1479:0.8521:0.0	.	372;364	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	364;372;372	ENSP00000418914:V364M;ENSP00000035307:V372M	ENSP00000035307:V372M	V	+	1	0	CHPF2	150565495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.884000	0.87274	2.652000	0.90054	0.655000	0.94253	GTG	G|1.000;T|0.000		0.637	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015	
CHRNA1	1134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	175624066	175624066	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr2:175624066A>T	ENST00000261007.5	-	3	293	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.L76Q|CHRNA1_ENST00000409542.1_Missense_Mutation_p.L76Q|CHRNA1_ENST00000409323.1_Missense_Mutation_p.L76Q|CHRNA1_ENST00000409219.1_Missense_Mutation_p.L76Q	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	76					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TACCTGTTTCAGACGCACATT	0.428																																					p.L76Q		.											.	CHRNA1	518	0			c.T227A						.						106.0	101.0	102.0					2																	175624066		2203	4300	6503	SO:0001583	missense	1134	exon3			TGTTTCAGACGCA	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.227T>A	2.37:g.175624066A>T	ENSP00000261007:p.Leu76Gln	216.0	0.0		247.0	78.0	NM_001039523	B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883238	0.91740	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	D	0.94649	0.7837	10	0.87932	D	0	.	16.4101	0.83708	1.0:0.0:0.0:0.0	.	76;76;76	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	Q	76	ENSP00000261008:L76Q;ENSP00000261007:L76Q;ENSP00000387026:L76Q;ENSP00000386611:L76Q;ENSP00000386684:L76Q	ENSP00000261007:L76Q	L	-	2	0	CHRNA1	175332312	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	2.280000	0.76307	0.460000	0.39030	CTG	.		0.428	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
DCDC1	341019	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	30937205	30937205	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:30937205T>C	ENST00000406071.2	-	0	1142				DCDC1_ENST00000339794.5_Missense_Mutation_p.Y248C|DCDC1_ENST00000597505.1_Missense_Mutation_p.Y1169C			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCATCTCTGTATTCGAACTG	0.458																																					p.Y276C		.											.	DCDC5	23	0			c.A827G						.						131.0	99.0	110.0					11																	30937205		2202	4299	6501			100506627	exon8			TCTCTGTATTCGA	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-290A>G	11.37:g.30937205T>C		318.0	1.0		294.0	80.0	NM_020869	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000406071.2	37		.	.	.	.	.	.	.	.	.	.	T	12.34	1.910050	0.33721	.	.	ENSG00000170959	ENST00000339794	T	0.28895	1.59	5.44	2.95	0.34219	Ricin B-related lectin (1);Ricin B lectin (2);	0.307696	0.23524	N	0.047250	T	0.37972	0.1023	L	0.32530	0.975	0.27872	N	0.939982	D	0.71674	0.998	D	0.66847	0.947	T	0.10042	-1.0647	10	0.72032	D	0.01	-5.6801	7.8306	0.29340	0.4922:0.0:0.0:0.5077	.	248	Q6ZRR9	DCDC5_HUMAN	C	248	ENSP00000341700:Y248C	ENSP00000341700:Y248C	Y	-	2	0	DCDC5	30893781	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	1.286000	0.33273	0.867000	0.35654	0.533000	0.62120	TAC	.		0.458	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
DMBT1	1755	broad.mit.edu;bcgsc.ca	37	10	124399625	124399625	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr10:124399625A>G	ENST00000338354.3	+	52	6731	c.6625A>G	c.(6625-6627)Agg>Ggg	p.R2209G	DMBT1_ENST00000368909.3_Missense_Mutation_p.R2209G|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1581G|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2199G|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2199G|DMBT1_ENST00000359586.6_Missense_Mutation_p.R929G|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1581G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2209	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATCAAGAGGAGGACAGACCT	0.507																																					p.R2209G	Ovarian(182;93 2026 18125 22222 38972)	.											.	DMBT1	494	0			c.A6625G						.						138.0	131.0	133.0					10																	124399625		2121	4241	6362	SO:0001583	missense	1755	exon52			AAGAGGAGGACAG		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6625A>G	10.37:g.124399625A>G	ENSP00000342210:p.Arg2209Gly	152.0	2.0		125.0	5.0	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	A	7.461	0.644778	0.14451	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.63	-0.198	0.13224	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.74152	0.3679	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.33777	0.257;0.241;0.372;0.372;0.372;0.372;0.425	B;B;B;B;B;B;B	0.30855	0.074;0.08;0.074;0.074;0.074;0.074;0.121	T	0.63042	-0.6725	9	0.72032	D	0.01	.	15.5142	0.75809	0.5447:0.4553:0.0:0.0	.	929;2189;1458;2338;1581;2199;2209	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	G	2209;2338;2209;2209;2209;2208;1581;2199;1581;1581;2209;2199;1581;355;929	ENSP00000342210:R2209G;ENSP00000343175:R2199G;ENSP00000327747:R1581G;ENSP00000357905:R2209G;ENSP00000357951:R2199G;ENSP00000357952:R1581G;ENSP00000352593:R929G	ENSP00000331522:R1581G	R	+	1	2	DMBT1	124389615	0.088000	0.21588	0.152000	0.22495	0.016000	0.09150	0.190000	0.17057	0.052000	0.16007	0.533000	0.62120	AGG	.		0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
FAM53C	51307	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	137681062	137681062	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr5:137681062C>T	ENST00000239906.5	+	4	1113	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.R229C|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	229										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCACCTCAGCGCCGCTTCTC	0.677																																					p.R229C		.											.	FAM53C	91	0			c.C685T						.						85.0	97.0	93.0					5																	137681062		2203	4300	6503	SO:0001583	missense	51307	exon4			CCTCAGCGCCGCT	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.685C>T	5.37:g.137681062C>T	ENSP00000239906:p.Arg229Cys	29.0	0.0		49.0	14.0	NM_001135647	B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929458	0.73327	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.57907	0.37;0.37	5.55	5.55	0.83447	.	0.252298	0.39834	N	0.001253	T	0.70937	0.3281	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.70156	-0.4949	9	.	.	.	-9.4919	18.4386	0.90656	0.0:1.0:0.0:0.0	.	229	Q9NYF3	FA53C_HUMAN	C	229	ENSP00000403705:R229C;ENSP00000239906:R229C	.	R	+	1	0	FAM53C	137708961	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.135000	0.50546	2.894000	0.99253	0.655000	0.94253	CGC	C|1.000;T|0.000		0.677	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
FBXO10	26267	broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	37518350	37518350	+	Silent	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:37518350C>T	ENST00000432825.2	-	9	2334	c.2286G>A	c.(2284-2286)gtG>gtA	p.V762V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.V287V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	762			V -> C (requires 2 nucleotide substitutions; found in a patient with lymphoma; partial loss of function in controlling the stability of BCL2). {ECO:0000269|PubMed:23431138}.		apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGCTCTGGGCCACAGTAATGC	0.592																																					p.V762V		.											.	FBXO10	637	0			c.G2286A						.						75.0	85.0	82.0					9																	37518350		2149	4247	6396	SO:0001819	synonymous_variant	26267	exon9			CTGGGCCACAGTA	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2286G>A	9.37:g.37518350C>T		207.0	1.0		331.0	29.0	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	CCDS47966.1																																																																																			.		0.592	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
GPR125	166647	broad.mit.edu;bcgsc.ca	37	4	22389481	22389481	+	Silent	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr4:22389481C>T	ENST00000334304.5	-	19	4082	c.3813G>A	c.(3811-3813)gtG>gtA	p.V1271V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1271					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAAGTTCAACCACAGCTGGCT	0.443																																					p.V1271V		.											.	GPR125	91	0			c.G3813A						.						99.0	97.0	98.0					4																	22389481		2203	4300	6503	SO:0001819	synonymous_variant	166647	exon19			TTCAACCACAGCT	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3813G>A	4.37:g.22389481C>T		240.0	1.0		123.0	6.0	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	CCDS33964.1																																																																																			.		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
GPR82	27197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	41586732	41586732	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chrX:41586732T>A	ENST00000302548.4	+	3	693	c.453T>A	c.(451-453)ttT>ttA	p.F151L	CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						AGCCCAACTTTGCTAGAAAAC	0.388																																					p.F151L		.											.	GPR82	110	0			c.T453A						.						49.0	50.0	50.0					X																	41586732		2202	4299	6501	SO:0001583	missense	27197	exon3			CAACTTTGCTAGA	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.453T>A	X.37:g.41586732T>A	ENSP00000303549:p.Phe151Leu	182.0	0.0		100.0	13.0	NM_080817	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336319	0.60963	.	.	ENSG00000171657	ENST00000302548	T	0.35236	1.32	5.73	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.46014	0.1371	L	0.54323	1.7	0.31162	N	0.704282	D	0.69078	0.997	D	0.80764	0.994	T	0.48091	-0.9065	10	0.12430	T	0.62	-14.8389	8.3659	0.32387	0.0:0.3226:0.0:0.6774	.	151	Q96P67	GPR82_HUMAN	L	151	ENSP00000303549:F151L	ENSP00000303549:F151L	F	+	3	2	GPR82	41471676	1.000000	0.71417	0.949000	0.38748	0.948000	0.59901	1.063000	0.30567	0.015000	0.14971	-0.323000	0.08544	TTT	.		0.388	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817	
GYPB	2994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	145039884	145039884	+	Intron	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr4:145039884T>A	ENST00000283126.7	-	1	93				GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.H20L|GYPA_ENST00000324022.10_Missense_Mutation_p.H52L|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.H59L|GYPA_ENST00000504786.1_Missense_Mutation_p.H53L|GYPA_ENST00000360771.4_Missense_Mutation_p.H85L|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGAGAAATGATGGGCAAGTTG	0.313																																					p.H85L		.											.	GYPA	514	0			c.A254T						.						109.0	109.0	109.0					4																	145039884		2203	4300	6503	SO:0001627	intron_variant	2993	exon4			AAATGATGGGCAA		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21867A>T	4.37:g.145039884T>A		722.0	0.0		370.0	87.0	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	T	9.261	1.043323	0.19748	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.94	1.33	0.21861	.	0.000000	0.42682	D	0.000668	T	0.35711	0.0941	M	0.68952	2.095	0.09310	N	1	D;D;D;B;D	0.89917	0.996;0.992;0.999;0.007;1.0	D;D;D;B;D	0.72338	0.934;0.912;0.955;0.022;0.977	T	0.08743	-1.0707	10	0.87932	D	0	-13.6461	4.5091	0.11903	0.1971:0.0:0.2052:0.5976	.	52;20;53;85;85	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	L	85;52;59;20;53;53	ENSP00000354003:H85L;ENSP00000324483:H52L;ENSP00000445398:H59L;ENSP00000425193:H20L;ENSP00000425549:H53L	ENSP00000324483:H52L	H	-	2	0	GYPA	145259334	0.029000	0.19370	0.000000	0.03702	0.001000	0.01503	1.046000	0.30354	0.288000	0.22398	0.482000	0.46254	CAT	.		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100	
HTR6	3362	broad.mit.edu;mdanderson.org	37	1	20005787	20005787	+	Missense_Mutation	SNP	G	G	A	rs200009000		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:20005787G>A	ENST00000289753.1	+	3	1716	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	417					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGCCGCTGCCGCCGTCAATTT	0.721																																					p.A417T	Esophageal Squamous(168;1879 2619 6848 21062)	.											.	HTR6	91	0			c.G1249A						.	G	THR/ALA	0,3732		0,0,1866	7.0	8.0	8.0		1249	1.7	0.0	1		8	1,7523		0,1,3761	no	missense	HTR6	NM_000871.1	58	0,1,5627	AA,AG,GG		0.0133,0.0,0.0089	benign	417/441	20005787	1,11255	1866	3762	5628	SO:0001583	missense	3362	exon3			GCTGCCGCCGTCA	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1249G>A	1.37:g.20005787G>A	ENSP00000289753:p.Ala417Thr	26.0	0.0		33.0	13.0	NM_000871	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633269	0.29068	0.0	1.33E-4	ENSG00000158748	ENST00000289753	T	0.53857	0.6	4.82	1.69	0.24217	.	1.774990	0.03135	N	0.165758	T	0.33789	0.0875	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15378	-1.0439	9	.	.	.	.	3.9482	0.09358	0.1893:0.0:0.5222:0.2885	.	417	P50406	5HT6R_HUMAN	T	417	ENSP00000289753:A417T	.	A	+	1	0	HTR6	19878374	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.524000	0.06222	0.573000	0.29400	0.561000	0.74099	GCC	.		0.721	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871	
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	.		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	IDH1,brain,glioma,+1	IDH1	23522	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	267.0	0.0		294.0	86.0	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
KANK1	23189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	738429	738429	+	Missense_Mutation	SNP	G	G	A	rs374492770		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:738429G>A	ENST00000382303.1	+	12	4130	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G1160S|KANK1_ENST00000382293.3_Missense_Mutation_p.G1002S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1160	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTTGGCAGACGGCAACGGCAA	0.547																																					p.G1160S		.											.	KANK1	517	0			c.G3478A						.	G	SER/GLY,SER/GLY	0,4406		0,0,2203	166.0	123.0	138.0		3478,3004	5.4	1.0	9		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KANK1	NM_015158.2,NM_153186.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1160/1353,1002/1195	738429	1,13005	2203	4300	6503	SO:0001583	missense	23189	exon12			GCAGACGGCAACG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3478G>A	9.37:g.738429G>A	ENSP00000371740:p.Gly1160Ser	219.0	1.0		255.0	80.0	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613308	0.87359	0.0	1.16E-4	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.62788	0.0;0.0;0.0	5.37	5.37	0.77165	Ankyrin repeat-containing domain (3);	0.000000	0.52532	D	0.000076	T	0.73976	0.3656	L	0.54965	1.715	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.71414	0.973;0.803;0.972	T	0.66500	-0.5908	10	0.14656	T	0.56	-18.4727	19.4732	0.94971	0.0:0.0:1.0:0.0	.	206;72;1160	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	S	1160;206;1160;1002;138;72	ENSP00000371740:G1160S;ENSP00000371734:G1160S;ENSP00000371730:G1002S	ENSP00000371723:G72S	G	+	1	0	KANK1	728429	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	9.700000	0.98707	2.680000	0.91292	0.563000	0.77884	GGC	.		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
KLRG2	346689	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	139164446	139164446	+	Missense_Mutation	SNP	G	G	A	rs138023732	byFrequency	TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr7:139164446G>A	ENST00000340940.4	-	3	1001	c.932C>T	c.(931-933)gCg>gTg	p.A311V	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	311	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCAGGCCTGCGCTTCTGCAGA	0.612																																					p.A311V		.											.	KLRG2	90	0			c.C932T						.	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	64.0	62.0	63.0		932	1.4	0.0	7	dbSNP_134	63	0,8600		0,0,4300	no	missense	KLRG2	NM_198508.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	311/410	139164446	2,13004	2203	4300	6503	SO:0001583	missense	346689	exon3			GCCTGCGCTTCTG	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.932C>T	7.37:g.139164446G>A	ENSP00000339356:p.Ala311Val	35.0	0.0		54.0	9.0	NM_198508	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	G	1.374	-0.585190	0.03827	4.54E-4	0.0	ENSG00000188883	ENST00000340940	T	0.19532	2.14	4.51	1.44	0.22558	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.884033	0.09343	N	0.815230	T	0.13286	0.0322	L	0.28458	0.855	0.09310	N	1	B	0.24368	0.102	B	0.20184	0.028	T	0.35201	-0.9798	10	0.21540	T	0.41	-0.0961	5.7164	0.17962	0.3597:0.0:0.6403:0.0	.	311	A4D1S0	KLRG2_HUMAN	V	311	ENSP00000339356:A311V	ENSP00000339356:A311V	A	-	2	0	KLRG2	138814986	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.055000	0.11807	0.526000	0.28541	-0.225000	0.12378	GCG	G|1.000;A|0.000		0.612	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508	
KPRP	448834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152732812	152732812	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:152732812C>T	ENST00000606109.1	+	1	776	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	KPRP_ENST00000368773.1_Missense_Mutation_p.R250W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	250						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACCGCTCTCGGAGCACCAG	0.607																																					p.R250W		.											.	KPRP	95	0			c.C748T						.						52.0	58.0	56.0					1																	152732812		2203	4300	6503	SO:0001583	missense	448834	exon2			CGCTCTCGGAGCA	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.748C>T	1.37:g.152732812C>T	ENSP00000475216:p.Arg250Trp	58.0	0.0		82.0	26.0	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609401	0.28623	.	.	ENSG00000203786	ENST00000368773	T	0.13657	2.57	5.56	2.67	0.31697	.	0.921332	0.08935	N	0.872419	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B	0.23650	0.089	B	0.21546	0.035	T	0.46048	-0.9219	10	0.87932	D	0	-0.0836	5.188	0.15195	0.1647:0.6645:0.0:0.1708	.	250	Q5T749	KPRP_HUMAN	W	250	ENSP00000357762:R250W	ENSP00000357762:R250W	R	+	1	2	KPRP	150999436	0.106000	0.21978	0.010000	0.14722	0.008000	0.06430	1.379000	0.34340	0.390000	0.25115	-0.140000	0.14226	CGG	.		0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
KRTAP10-11	386678	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	21	46066650	46066650	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr21:46066650C>G	ENST00000334670.8	+	1	320	c.275C>G	c.(274-276)tCc>tGc	p.S92C	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	92	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGCTGCACCTCCTCCCcctgc	0.657																																					p.S92C		.											.	KRTAP10-11	91	0			c.C275G						.						85.0	87.0	86.0					21																	46066650		2203	4298	6501	SO:0001583	missense	386678	exon1			GCACCTCCTCCCC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.275C>G	21.37:g.46066650C>G	ENSP00000334197:p.Ser92Cys	191.0	0.0		247.0	23.0	NM_198692	A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	9.733	1.162758	0.21538	.	.	ENSG00000243489	ENST00000334670	T	0.00695	5.83	3.57	0.12	0.14691	.	.	.	.	.	T	0.01627	0.0052	M	0.80422	2.495	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.28713	-1.0035	9	0.49607	T	0.09	.	12.8421	0.57809	0.0:0.4303:0.5697:0.0	.	92	P60412	KR10B_HUMAN	C	92	ENSP00000334197:S92C	ENSP00000334197:S92C	S	+	2	0	KRTAP10-11	44891078	0.000000	0.05858	0.018000	0.16275	0.822000	0.46500	0.194000	0.17135	0.008000	0.14787	0.456000	0.33151	TCC	.		0.657	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692	
LRRN2	10446	ucsc.edu;bcgsc.ca	37	1	204587323	204587323	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:204587323C>T	ENST00000367175.1	-	1	4010	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A600T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A600T|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	600					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCAGCAAAGGCCACTTGCAGG	0.632																																					p.A600T		.											.	LRRN2	514	0			c.G1798A						.						47.0	51.0	50.0					1																	204587323		2203	4300	6503	SO:0001583	missense	10446	exon3			CAAAGGCCACTTG	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1798G>A	1.37:g.204587323C>T	ENSP00000356143:p.Ala600Thr	29.0	0.0		51.0	5.0	NM_006338	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516683	0.27123	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.04317	3.65;3.65;3.65	5.33	4.42	0.53409	.	0.472817	0.15875	N	0.240341	T	0.06188	0.0160	L	0.50333	1.59	0.36727	D	0.881484	B	0.25441	0.126	B	0.18263	0.021	T	0.25950	-1.0117	10	0.20519	T	0.43	.	13.3719	0.60717	0.0:0.9231:0.0:0.0769	.	600	O75325	LRRN2_HUMAN	T	600	ENSP00000356144:A600T;ENSP00000356145:A600T;ENSP00000356143:A600T	ENSP00000356143:A600T	A	-	1	0	LRRN2	202853946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.295000	0.33377	1.246000	0.43901	0.591000	0.81541	GCC	.		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338	
ANAPC15	25906	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	71819726	71819726	+	IGR	SNP	C	C	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:71819726C>A	ENST00000227618.4	-	0	886				ANAPC15_ENST00000543050.1_Intron|ANAPC15_ENST00000502597.2_Intron|LRTOMT_ENST00000307198.7_Missense_Mutation_p.L211M|LRTOMT_ENST00000419228.1_Missense_Mutation_p.L171M|LRTOMT_ENST00000439209.1_3'UTR|LRTOMT_ENST00000435085.1_Missense_Mutation_p.L211M|ANAPC15_ENST00000543015.1_5'Flank	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											TCGGGCAGACCTGGTGCTCCT	0.652																																					p.L211M		.											.	LRTOMT	68	0			c.C631A						.						54.0	51.0	52.0					11																	71819726		692	1591	2283	SO:0001628	intergenic_variant	220074	exon7			GCAGACCTGGTGC	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865		11.37:g.71819726C>A		28.0	0.0		36.0	9.0	NM_001145308	G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	ENST00000227618.4	37	CCDS8210.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687934	0.29962	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	T;T;T	0.29142	1.58;1.58;1.58	5.17	3.21	0.36854	.	.	.	.	.	T	0.39384	0.1076	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.14090	-1.0485	9	0.18710	T	0.47	-3.6591	7.6386	0.28280	0.0:0.6301:0.0:0.3699	.	211;171	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	M	171;211;211	ENSP00000392233:L171M;ENSP00000409789:L211M;ENSP00000305742:L211M	ENSP00000305742:L171M	L	+	1	2	LRTOMT	71497374	0.483000	0.25956	0.988000	0.46212	0.915000	0.54546	0.730000	0.26043	0.647000	0.30713	-0.144000	0.13903	CTG	.		0.652	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042	
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39907974	39907974	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:39907974G>T	ENST00000372915.3	+	75	18714	c.18627G>T	c.(18625-18627)gaG>gaT	p.E6209D	MACF1_ENST00000289893.4_Missense_Mutation_p.E4753D|MACF1_ENST00000317713.7_Missense_Mutation_p.E4251D|MACF1_ENST00000361689.2_Missense_Mutation_p.E4251D|MACF1_ENST00000567887.1_Missense_Mutation_p.E6347D|MACF1_ENST00000545844.1_Missense_Mutation_p.E4251D|MACF1_ENST00000539005.1_Missense_Mutation_p.E4121D|MACF1_ENST00000564288.1_Missense_Mutation_p.E6310D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6209					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCTGGGTGAGAAAATTGCCC	0.438																																					p.E4251D		.											.	MACF1	165	0			c.G12753T						.						46.0	48.0	47.0					1																	39907974		2203	4300	6503	SO:0001583	missense	23499	exon73			GGGTGAGAAAATT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18627G>T	1.37:g.39907974G>T	ENSP00000362006:p.Glu6209Asp	128.0	0.0		123.0	39.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.61|12.61	1.989737|1.989737	0.35131|0.35131	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61;0.61;0.61|.	6.03|6.03	0.646|0.646	0.17789|0.17789	.|.	0.090504|0.090504	0.47852|0.47852	D|D	0.000217|0.000217	T|.	0.26448|.	0.0646|.	N|N	0.11927|0.11927	0.2|0.2	0.80722|0.80722	D|D	1|1	B;B|.	0.32800|.	0.27;0.385|.	B;B|.	0.38842|.	0.241;0.283|.	T|.	0.09335|.	-1.0679|.	10|.	0.34782|0.07175	T|T	0.22|0.84	.|.	6.3831|6.3831	0.21546|0.21546	0.4178:0.1188:0.4634:0.0|0.4178:0.1188:0.4634:0.0	.|.	6209;4251|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	D|X	4251;6209;4251;4251;4121;4753|3255	ENSP00000439537:E4251D;ENSP00000362006:E6209D;ENSP00000354573:E4251D;ENSP00000313438:E4251D;ENSP00000444364:E4121D;ENSP00000289893:E4753D|.	ENSP00000289893:E4753D|ENSP00000362016:E3255X	E|E	+|+	3|1	2|0	MACF1|MACF1	39680561|39680561	0.969000|0.969000	0.33509|0.33509	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	0.116000|0.116000	0.15561|0.15561	-0.132000|-0.132000	0.11557|0.11557	0.655000|0.655000	0.94253|0.94253	GAG|GAA	.		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MAPKAP1	79109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	128230302	128230302	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:128230302T>C	ENST00000373498.1	-	9	1362	c.1294A>G	c.(1294-1296)Atc>Gtc	p.I432V	MAPKAP1_ENST00000265960.3_Missense_Mutation_p.I432V|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.I396V|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.I385V|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.I240V|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.I145V|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.I240V			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	432					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TCGGAATCGATTGAGATGGGT	0.453																																					p.I432V		.											.	MAPKAP1	678	0			c.A1294G						.						205.0	196.0	199.0					9																	128230302		2203	4300	6503	SO:0001583	missense	79109	exon10			AATCGATTGAGAT	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1294A>G	9.37:g.128230302T>C	ENSP00000362597:p.Ile432Val	384.0	0.0		394.0	30.0	NM_001006617	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097275	0.56075	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	6.07	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.65975	2.015	0.52099	D	0.999941	D;D;P;D	0.58268	0.971;0.971;0.936;0.982	P;P;P;P	0.57283	0.795;0.816;0.698;0.817	T	0.60454	-0.7260	9	0.15952	T	0.53	-3.9461	10.8112	0.46549	0.0:0.1281:0.0:0.8719	.	145;385;396;432	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	V	385;396;240;432;432;240;145;204	.	ENSP00000265960:I432V	I	-	1	0	MAPKAP1	127270123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.298000	0.72763	0.523000	0.28482	0.533000	0.62120	ATC	.		0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1		
MAPKBP1	23005	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	42110257	42110257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr15:42110257delA	ENST00000456763.2	+	18	2169	c.1973delA	c.(1972-1974)cagfs	p.Q658fs	MAPKBP1_ENST00000457542.2_Frame_Shift_Del_p.Q652fs|MAPKBP1_ENST00000260357.7_Frame_Shift_Del_p.Q491fs|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.Q652fs|MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.Q535fs	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	658										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AAAGGGTCACAGGGTGAGGAC	0.527																																					p.Q658fs		.											.	MAPKBP1	589	0			c.1973delA						.						116.0	119.0	118.0					15																	42110257		2203	4300	6503	SO:0001589	frameshift_variant	23005	exon18			GGTCACAGGGTGA	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1973delA	15.37:g.42110257delA	ENSP00000393099:p.Gln658fs	148.0	0.0		193.0	45.0	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Frame_Shift_Del	DEL	ENST00000456763.2	37	CCDS45239.1																																																																																			.		0.527	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
MGAT5B	146664	broad.mit.edu;bcgsc.ca	37	17	74901327	74901327	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr17:74901327A>G	ENST00000569840.2	+	7	1341	c.767A>G	c.(766-768)aAg>aGg	p.K256R	MGAT5B_ENST00000428789.2_Missense_Mutation_p.K267R|MGAT5B_ENST00000301618.4_Missense_Mutation_p.K256R|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	256					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCATGAAGAAGCGGACCAAG	0.647																																					p.K267R		.											.	MGAT5B	93	0			c.A800G						.						37.0	41.0	39.0					17																	74901327		2203	4300	6503	SO:0001583	missense	146664	exon6			TGAAGAAGCGGAC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.767A>G	17.37:g.74901327A>G	ENSP00000456037:p.Lys256Arg	141.0	2.0		196.0	14.0	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.706336	0.30232	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.44881	0.91;0.91	5.22	4.13	0.48395	.	0.171927	0.48767	D	0.000168	T	0.23210	0.0561	N	0.13235	0.315	0.39212	D	0.963347	B;B	0.12013	0.005;0.003	B;B	0.13407	0.009;0.009	T	0.09952	-1.0651	10	0.14656	T	0.56	-30.1193	10.4266	0.44383	0.9213:0.0:0.0787:0.0	.	267;256	Q3V5L5-2;Q3V5L5-5	.;.	R	256;256;267	ENSP00000301618:K256R;ENSP00000391227:K267R	ENSP00000301618:K256R	K	+	2	0	MGAT5B	72412922	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.737000	0.55060	1.956000	0.56807	0.421000	0.28195	AAG	.		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	129901092	129901092	+	Silent	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr10:129901092T>A	ENST00000368654.3	-	13	9387	c.9012A>T	c.(9010-9012)ggA>ggT	p.G3004G	MKI67_ENST00000368653.3_Silent_p.G2644G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3004					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCGTGACGCTTCCATCTTTGC	0.572																																					p.G3004G		.											.	MKI67	519	0			c.A9012T						.						88.0	80.0	83.0					10																	129901092		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			GACGCTTCCATCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9012A>T	10.37:g.129901092T>A		107.0	0.0		73.0	32.0	NM_002417	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			.		0.572	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MMP16	4325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	89180036	89180036	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr8:89180036C>T	ENST00000286614.6	-	4	852	c.571G>A	c.(571-573)Ggt>Agt	p.G191S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	191					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCATGGAAACCAGATGCAAAA	0.443																																					p.G191S		.											.	MMP16	231	0			c.G571A						.						89.0	80.0	83.0					8																	89180036		2203	4300	6503	SO:0001583	missense	4325	exon4			GGAAACCAGATGC	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.571G>A	8.37:g.89180036C>T	ENSP00000286614:p.Gly191Ser	188.0	0.0		135.0	33.0	NM_005941	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750365	0.96890	.	.	ENSG00000156103	ENST00000286614	T	0.21543	2.0	5.91	5.91	0.95273	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.085161	0.85682	D	0.000000	T	0.49541	0.1563	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.35500	-0.9786	10	0.52906	T	0.07	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	191;191	P51512-2;P51512	.;MMP16_HUMAN	S	191	ENSP00000286614:G191S	ENSP00000286614:G191S	G	-	1	0	MMP16	89249152	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.751000	0.85126	2.823000	0.97156	0.644000	0.83932	GGT	.		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
MUC16	94025	ucsc.edu;bcgsc.ca	37	19	9083584	9083584	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr19:9083584A>G	ENST00000397910.4	-	1	8434	c.8231T>C	c.(8230-8232)aTc>aCc	p.I2744T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2744	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCACTGTGATCGAACCTTC	0.463																																					p.I2744T		.											.	MUC16	566	0			c.T8231C						.						123.0	117.0	119.0					19																	9083584		1923	4121	6044	SO:0001583	missense	94025	exon1			ACTGTGATCGAAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8231T>C	19.37:g.9083584A>G	ENSP00000381008:p.Ile2744Thr	142.0	0.0		45.0	4.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.346645	0.01266	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.49273	-0.8957	7	0.87932	D	0	.	.	.	.	.	2744	B5ME49	.	T	2744	ENSP00000381008:I2744T	ENSP00000381008:I2744T	I	-	2	0	MUC16	8944584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.494000	0.02296	-1.765000	0.01303	-1.741000	0.00685	ATC	.		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NLGN4X	57502	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	5821679	5821679	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chrX:5821679T>C	ENST00000381095.3	-	5	1667	c.1040A>G	c.(1039-1041)gAc>gGc	p.D347G	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D347G|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D347G|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D347G|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D367G	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	347					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGATGACGTCGCCGTCGAT	0.582																																					p.D347G		.											.	NLGN4X	195	0			c.A1040G						.						134.0	93.0	107.0					X																	5821679		2203	4300	6503	SO:0001583	missense	57502	exon5			ATGACGTCGCCGT	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1040A>G	X.37:g.5821679T>C	ENSP00000370485:p.Asp347Gly	413.0	2.0		567.0	176.0	NM_181332	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109776	0.37242	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.81508	0.4837	M	0.84511	2.7	0.80722	D	1	D;D;P	0.76494	0.996;0.999;0.858	D;D;P	0.77557	0.929;0.99;0.465	T	0.83099	-0.0129	8	.	.	.	.	11.4714	0.50270	0.0:0.0:0.0:1.0	.	404;347;367	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	G	347;367;347;347;347	ENSP00000370485:D347G;ENSP00000370483:D367G;ENSP00000275857:D347G;ENSP00000370482:D347G;ENSP00000439203:D347G	.	D	-	2	0	NLGN4X	5831679	1.000000	0.71417	0.020000	0.16555	0.027000	0.11550	6.912000	0.75753	1.278000	0.44430	0.486000	0.48141	GAC	.		0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
OR8H2	390151	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55872687	55872687	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:55872687C>T	ENST00000313503.1	+	1	169	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H57Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCTCCAGCTTCACACTCCCAT	0.423										HNSCC(53;0.14)																											p.H57Y		.											.	OR8H2	70	1	Substitution - Missense(1)	lung(1)	c.C169T						.						264.0	239.0	248.0					11																	55872687		2201	4293	6494	SO:0001583	missense	390151	exon1			CAGCTTCACACTC	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.169C>T	11.37:g.55872687C>T	ENSP00000323982:p.His57Tyr	301.0	1.0		302.0	33.0	NM_001005200	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.172220	0.38315	.	.	ENSG00000181767	ENST00000313503	T	0.15952	2.38	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.42517	0.1206	M	0.90542	3.125	0.30664	N	0.754128	D	0.76494	0.999	D	0.70487	0.969	T	0.51108	-0.8747	10	0.87932	D	0	.	6.5232	0.22287	0.1797:0.7187:0.0:0.1016	.	57	Q8N162	OR8H2_HUMAN	Y	57	ENSP00000323982:H57Y	ENSP00000323982:H57Y	H	+	1	0	OR8H2	55629263	0.976000	0.34144	0.954000	0.39281	0.234000	0.25298	2.543000	0.45752	1.952000	0.56665	0.440000	0.28878	CAC	.		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
AKAP2	11217	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	112918686	112918686	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:112918686G>A	ENST00000259318.7	+	3	2597	c.2390G>A	c.(2389-2391)gGa>gAa	p.G797E	AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028E|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886E|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G1028E|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886E|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028E|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028E	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	797										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGGCTGCCGGAACCCAGCGG	0.507																																					p.G1028E		.											.	PALM2-AKAP2	475	0			c.G3083A						.						68.0	74.0	72.0					9																	112918686		2203	4300	6503	SO:0001583	missense	445815	exon9			CTGCCGGAACCCA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2390G>A	9.37:g.112918686G>A	ENSP00000259318:p.Gly797Glu	119.0	1.0		99.0	10.0	NM_007203	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978199	0.92982	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	T	0.36986	-0.9725	10	0.32370	T	0.25	-23.9329	18.7114	0.91658	0.0:0.0:1.0:0.0	.	797;886;887;1028;1028	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	E	1028;1028;1028;1028;886;886;797	ENSP00000363654:G1028E;ENSP00000305861:G1028E;ENSP00000451476:G1028E;ENSP00000421522:G1028E;ENSP00000404782:G886E;ENSP00000363649:G886E;ENSP00000259318:G797E	ENSP00000259318:G797E	G	+	2	0	PALM2-AKAP2;AKAP2	111958507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.730000	0.93505	0.655000	0.94253	GGA	.		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	55839135	55839135	+	Missense_Mutation	SNP	G	G	A	rs573043647		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr10:55839135G>A	ENST00000320301.6	-	17	2441	c.2047C>T	c.(2047-2049)Cgc>Tgc	p.R683C	PCDH15_ENST00000409834.1_Missense_Mutation_p.R294C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R646C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R683C|PCDH15_ENST00000373957.3_Missense_Mutation_p.R661C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R688C|PCDH15_ENST00000373965.2_Missense_Mutation_p.R690C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R612C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R690C|PCDH15_ENST00000395446.1_Missense_Mutation_p.R683C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R683C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R661C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R683C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R683C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	683	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAATGTAGCGATCAGTGCTT	0.428										HNSCC(58;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18679	0.0		0.001	False		,,,				2504	0.0				p.R688C		.											.	PCDH15	193	0			c.C2062T						.						259.0	232.0	241.0					10																	55839135		2203	4300	6503	SO:0001583	missense	65217	exon18			TGTAGCGATCAGT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2047C>T	10.37:g.55839135G>A	ENSP00000322604:p.Arg683Cys	264.0	1.0		151.0	61.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763231	0.89932	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.3;0.63	5.9	5.9	0.94986	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72779	0.3503	L	0.45744	1.44	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.978;0.978;0.964;0.973;0.978;0.999;0.935;0.964;0.964;0.935;0.935;0.931;0.959;0.964	T	0.73225	-0.4050	9	0.87932	D	0	.	19.8634	0.96793	0.0:0.0:1.0:0.0	.	661;683;683;688;612;646;683;683;690;690;683;688;683;661;683	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	690;688;683;683;294;690;683;646;683;661;661;683;683;688;612;683	ENSP00000363076:R690C;ENSP00000410304:R688C;ENSP00000378826:R683C;ENSP00000386693:R294C;ENSP00000378832:R690C;ENSP00000378833:R683C;ENSP00000378820:R646C;ENSP00000354950:R683C;ENSP00000378821:R661C;ENSP00000363068:R661C;ENSP00000322604:R683C;ENSP00000378818:R683C;ENSP00000412628:R612C;ENSP00000363066:R683C	ENSP00000322604:R683C	R	-	1	0	PCDH15	55509141	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.963000	0.63694	2.800000	0.96347	0.591000	0.81541	CGC	.		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH20	64881	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	61987587	61987587	+	Silent	SNP	C	C	T	rs201107730		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr13:61987587C>T	ENST00000409186.1	-	5	2750	c.645G>A	c.(643-645)tcG>tcA	p.S215S	PCDH20_ENST00000409204.4_Silent_p.S215S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S188S(1)|p.S215S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACCCACACCGAGATCTGGG	0.527																																					p.S215S		.											.	PCDH20	581	2	Substitution - coding silent(2)	large_intestine(2)	c.G645A						.						110.0	99.0	102.0					13																	61987587		2203	4300	6503	SO:0001819	synonymous_variant	64881	exon2			CCACACCGAGATC	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.645G>A	13.37:g.61987587C>T		107.0	1.0		92.0	20.0	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																			C|0.999;A|0.000		0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDHGA12	26025	broad.mit.edu;bcgsc.ca	37	5	140890573	140890573	+	Missense_Mutation	SNP	C	C	T	rs148119281		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr5:140890573C>T	ENST00000252085.3	+	4	2774	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	PCDHGC4_ENST00000306593.1_Missense_Mutation_p.R884C|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.R880C|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.R881C|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.R890C|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.R875C|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.R882C|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.R878C|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.R878C|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.R869C|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.R875C|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.R878C|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.R878C|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.R873C|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.R877C|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.R876C|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.R877C|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.R877C|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.R877C|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.R878C|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.R878C|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R696C	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	878					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGCGCCCGCTACGGACC	0.617																																					p.R890C		.											.	PCDHGC5	25	0			c.C2668T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	98.0	96.0		2638,2632,2605,2629,2644,2641,2632,2632,2629,2629,2632,2632,2632,2617,2629,2623,2605,2626,2623,2650,2668,2632,2086,238	4.0	1.0	5	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1	180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	880/935,878/933,869/924,877/932,882/937,881/936,878/933,878/933,877/932,877/932,878/933,878/933,878/933,873/928,877/932,875/930,869/924,876/931,875/930,884/939,890/945,878/933,696/751,80/135	140890573	1,13005	2203	4300	6503	SO:0001583	missense	56097	exon4			AGCGCCCGCTACG	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2632C>T	5.37:g.140890573C>T	ENSP00000252085:p.Arg878Cys	136.0	1.0		203.0	10.0	NM_018929	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731040	0.69074	2.27E-4	0.0	ENSG00000204956;ENSG00000081853;ENSG00000254245;ENSG00000254221;ENSG00000253910;ENSG00000253485;ENSG00000253731;ENSG00000253537;ENSG00000253953;ENSG00000253767;ENSG00000253305;ENSG00000253846;ENSG00000254122;ENSG00000253873;ENSG00000253873;ENSG00000253159;ENSG00000240184;ENSG00000242419;ENSG00000240764	ENST00000517417;ENST00000394576;ENST00000253812;ENST00000523390;ENST00000522605;ENST00000518069;ENST00000517434;ENST00000518325;ENST00000519479;ENST00000398604;ENST00000520790;ENST00000398610;ENST00000398594;ENST00000398587;ENST00000518882;ENST00000252085;ENST00000308177;ENST00000306593;ENST00000252087	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	4.9	4.04	0.47022	.	0.000000	0.46442	D	0.000281	D	0.95648	0.8585	L	0.41236	1.265	0.54753	D	0.999988	D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.89917	0.97;0.599;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.901;1.0;1.0	B;B;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P;D;D	0.97110	0.318;0.064;0.999;0.996;0.991;0.999;1.0;0.999;0.991;0.926;1.0;0.84;1.0;0.999;1.0;0.999;0.999;1.0;0.999;1.0;0.926;0.548;1.0;0.993	D	0.95192	0.8309	10	0.87932	D	0	.	9.1172	0.36764	0.1458:0.7772:0.0:0.0769	.	890;884;80;880;878;881;696;875;882;876;878;869;878;869;878;878;875;877;877;877;873;878;878;877	Q9Y5F6;Q9Y5F7;Q9BR81;Q9UN70;O60330;Q9Y5H2;Q9Y5H2-3;Q9Y5F8;Q9Y5H3;Q9Y5F9;Q9Y5G4;Q9Y5G0;Q9Y5G5;Q9UN71;Q9Y5G6;Q9Y5G7;Q9Y5G1;Q9Y5G8;Q9Y5G2;Q9Y5G9;Q9Y5G3;Q9Y5H0;Q9Y5H1;Q9Y5H4	PCDGM_HUMAN;PCDGL_HUMAN;.;PCDGK_HUMAN;PCDGC_HUMAN;PCDGB_HUMAN;.;PCDGJ_HUMAN;PCDGA_HUMAN;PCDGI_HUMAN;PCDG9_HUMAN;PCDGH_HUMAN;PCDG8_HUMAN;PCDGG_HUMAN;PCDG7_HUMAN;PCDG6_HUMAN;PCDGF_HUMAN;PCDG5_HUMAN;PCDGE_HUMAN;PCDG4_HUMAN;PCDGD_HUMAN;PCDG3_HUMAN;PCDG2_HUMAN;PCDG1_HUMAN	C	877;878;878;873;877;877;878;878;869;878;876;882;875;881;696;878;880;884;890	ENSP00000431083:R877C;ENSP00000378077:R878C;ENSP00000253812:R878C;ENSP00000429273:R873C;ENSP00000429018:R877C;ENSP00000429834:R877C;ENSP00000429601:R878C;ENSP00000430024:R878C;ENSP00000428288:R869C;ENSP00000381605:R878C;ENSP00000428603:R876C;ENSP00000381611:R882C;ENSP00000381594:R875C;ENSP00000381589:R881C;ENSP00000428333:R696C;ENSP00000252085:R878C;ENSP00000312070:R880C;ENSP00000306918:R884C;ENSP00000252087:R890C	ENSP00000381611:R882C	R	+	1	0	PCDHGA12;PCDHGA10;PCDHGA11;PCDHGB7;PCDHGA8;PCDHGC5;PCDHGA7;PCDHGB6;PCDHGC4;PCDHGA6;PCDHGC3;PCDHGA5;PCDHGA3;PCDHGB2;PCDHGA2;PCDHGA1;PCDHGB4;PCDHGB1	140870757	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.317000	0.51968	1.290000	0.44636	0.511000	0.50034	CGC	C|1.000;T|0.000		0.617	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PICALM	8301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	85712084	85712084	+	Silent	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:85712084A>G	ENST00000393346.3	-	10	1159	c.1011T>C	c.(1009-1011)gcT>gcC	p.A337A	PICALM_ENST00000532317.1_Silent_p.A337A|PICALM_ENST00000526033.1_Silent_p.A337A|PICALM_ENST00000356360.5_Silent_p.A337A|PICALM_ENST00000528398.1_Silent_p.A286A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	337					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTACCTTTAAAGCTTTCAAAC	0.423			T	"""MLLT10, MLL"""	"""TALL, AML, """																																p.A337A		.		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	PICALM	659	0			c.T1011C						.						269.0	245.0	253.0					11																	85712084		2203	4299	6502	SO:0001819	synonymous_variant	8301	exon10			CTTTAAAGCTTTC	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1011T>C	11.37:g.85712084A>G		520.0	0.0		584.0	158.0	NM_007166	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.46|11.46	1.645177|1.645177	0.29246|0.29246	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000530542|ENST00000529016	.|.	.|.	.|.	5.83|5.83	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.63546|0.63546	0.2520|0.2520	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60606|0.60606	-0.7230|-0.7230	4|4	.|.	.|.	.|.	-10.6027|-10.6027	11.9757|11.9757	0.53089|0.53089	0.8663:0.0:0.0:0.1337|0.8663:0.0:0.0:0.1337	.|.	.|.	.|.	.|.	L|P	40|34	.|.	.|.	F|L	-|-	1|2	0|0	PICALM|PICALM	85389732|85389732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.021000|2.021000	0.41020|0.41020	0.992000|0.992000	0.38840|0.38840	0.533000|0.533000	0.62120|0.62120	TTT|CTT	.		0.423	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
PRKAA2	5563	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	57161707	57161707	+	Silent	SNP	G	G	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:57161707G>A	ENST00000371244.4	+	6	729	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATGTACCTACGTTATTTAAGA	0.453																																					p.T221T		.											.	PRKAA2	885	0			c.G663A						.						305.0	302.0	303.0					1																	57161707		2203	4300	6503	SO:0001819	synonymous_variant	5563	exon6			ACCTACGTTATTT	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.663G>A	1.37:g.57161707G>A		568.0	1.0		595.0	37.0	NM_006252	Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	CCDS605.1																																																																																			.		0.453	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
PRMT8	56341	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	3702274	3702274	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr12:3702274G>A	ENST00000382622.3	+	10	1501	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	PRMT8_ENST00000452611.2_Missense_Mutation_p.D362N|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	371	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCGAGACCTCGATTTCACAGT	0.532																																					p.D371N		.											.	PRMT8	94	0			c.G1111A						.						99.0	82.0	87.0					12																	3702274		2203	4300	6503	SO:0001583	missense	56341	exon10			GACCTCGATTTCA	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1111G>A	12.37:g.3702274G>A	ENSP00000372067:p.Asp371Asn	108.0	0.0		126.0	15.0	NM_019854	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199887	0.79015	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.86627	-2.15;-2.15	5.22	5.22	0.72569	.	0.044150	0.85682	D	0.000000	D	0.86389	0.5921	L	0.54965	1.715	0.80722	D	1	P;B	0.47841	0.901;0.41	B;B	0.44044	0.439;0.133	D	0.87923	0.2705	10	0.59425	D	0.04	.	16.2763	0.82644	0.0:0.0:1.0:0.0	.	362;371	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	N	362;371	ENSP00000414507:D362N;ENSP00000372067:D371N	ENSP00000372067:D371N	D	+	1	0	PRMT8	3572535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.732000	0.98816	2.445000	0.82738	0.313000	0.20887	GAT	.		0.532	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
RAB11FIP1	80223	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	37756823	37756823	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr8:37756823T>A	ENST00000330843.4	-	1	149	c.137A>T	c.(136-138)cAg>cTg	p.Q46L	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q46L|RAB11FIP1_ENST00000522727.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	46	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTGCCCACCTGGATCACCGC	0.731																																					p.Q46L		.											.	RAB11FIP1	92	0			c.A137T						.						14.0	17.0	16.0					8																	37756823		2192	4286	6478	SO:0001583	missense	80223	exon1			CCCACCTGGATCA	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.137A>T	8.37:g.37756823T>A	ENSP00000331342:p.Gln46Leu	24.0	0.0		79.0	26.0	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	t	31	5.069606	0.93950	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000343853	T;T	0.69806	-0.43;-0.43	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.335659	0.25948	N	0.027275	T	0.75398	0.3844	M	0.71581	2.175	0.80722	D	1	P;D	0.54772	0.763;0.968	B;P	0.56960	0.3;0.81	T	0.77555	-0.2544	10	0.56958	D	0.05	-11.3897	11.0281	0.47757	0.0:0.0:0.2031:0.7969	.	46;46	Q6WKZ4-3;Q6WKZ4	.;RFIP1_HUMAN	L	46	ENSP00000287263:Q46L;ENSP00000331342:Q46L	ENSP00000287263:Q46L	Q	-	2	0	RAB11FIP1	37875981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.035000	0.57297	1.902000	0.55061	0.524000	0.50904	CAG	.		0.731	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
RAB27B	5874	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	52556472	52556472	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr18:52556472C>A	ENST00000262094.5	+	6	1006	c.485C>A	c.(484-486)aCa>aAa	p.T162K	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	162					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TATTTTGAAACAAGTGCAGCA	0.398																																					p.T162K		.											.	RAB27B	227	0			c.C485A						.						94.0	87.0	90.0					18																	52556472		2203	4300	6503	SO:0001583	missense	5874	exon6			TTGAAACAAGTGC	U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.485C>A	18.37:g.52556472C>A	ENSP00000262094:p.Thr162Lys	134.0	1.0		71.0	24.0	NM_004163	B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	37	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072762	0.93950	.	.	ENSG00000041353	ENST00000262094	T	0.77750	-1.12	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94500	0.7709	10	0.87932	D	0	-5.786	19.3531	0.94398	0.0:1.0:0.0:0.0	.	162	O00194	RB27B_HUMAN	K	162	ENSP00000262094:T162K	ENSP00000262094:T162K	T	+	2	0	RAB27B	50707470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	ACA	.		0.398	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	
RIC8A	60626	broad.mit.edu;ucsc.edu	37	11	214285	214285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:214285C>T	ENST00000526104.1	+	10	2875	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000325207.5_Nonsense_Mutation_p.Q517*|RIC8A_ENST00000527696.1_Nonsense_Mutation_p.Q505*			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	511					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TACGTCCCTGCAGGATGCCAT	0.617																																					p.Q517X		.											.	RIC8A	514	0			c.C1549T						.						97.0	75.0	83.0					11																	214285		2203	4300	6503	SO:0001587	stop_gained	60626	exon10			TCCCTGCAGGATG	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1531C>T	11.37:g.214285C>T	ENSP00000432008:p.Gln511*	82.0	0.0		138.0	9.0	NM_021932	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Nonsense_Mutation	SNP	ENST00000526104.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.231802|4.231802	0.79688|0.79688	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000524854|ENST00000526104;ENST00000325207;ENST00000527696	.|.	.|.	.|.	4.83|4.83	3.91|3.91	0.45181|0.45181	.|.	.|0.461356	.|0.20271	.|N	.|0.095655	T|.	0.56848|.	0.2013|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52041|.	-0.8628|.	4|.	.|0.30078	.|T	.|0.28	-25.0743|-25.0743	8.4991|8.4991	0.33148|0.33148	0.0:0.664:0.2475:0.0886|0.0:0.664:0.2475:0.0886	.|.	.|.	.|.	.|.	V|X	126|511;517;505	.|.	.|ENSP00000325941:Q517X	A|Q	+|+	2|1	0|0	RIC8A|RIC8A	204285|204285	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	3.006000|3.006000	0.49529|0.49529	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	GCA|CAG	.		0.617	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
RIMS2	9699	ucsc.edu;bcgsc.ca	37	8	104897856	104897856	+	Silent	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr8:104897856A>G	ENST00000436393.2	+	2	604	c.363A>G	c.(361-363)ccA>ccG	p.P121P	RIMS2_ENST00000406091.3_Silent_p.P343P|RIMS2_ENST00000262231.10_Silent_p.P151P|RIMS2_ENST00000507740.1_Silent_p.P151P|RIMS2_ENST00000522174.1_3'UTR			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	374	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)			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)			CCCGTTATCCAGTAAAGCCAC	0.478										HNSCC(12;0.0054)																											p.P343P		.											.	RIMS2	279	0			c.A1029G						.						86.0	86.0	86.0					8																	104897856		2010	4175	6185	SO:0001819	synonymous_variant	9699	exon4			TTATCCAGTAAAG	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		ENST00000436393.2:c.363A>G	8.37:g.104897856A>G		130.0	0.0		44.0	4.0	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				.		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
SCN10A	6336	ucsc.edu;bcgsc.ca	37	3	38830477	38830477	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr3:38830477A>G	ENST00000449082.2	-	3	439	c.440T>C	c.(439-441)aTg>aCg	p.M147T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	147					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGTTCGGGTCATGCACACACA	0.393																																					p.M147T		.											.	SCN10A	99	0			c.T440C						.						141.0	130.0	134.0					3																	38830477		2203	4300	6503	SO:0001583	missense	6336	exon3			CGGGTCATGCACA	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.440T>C	3.37:g.38830477A>G	ENSP00000390600:p.Met147Thr	113.0	0.0		42.0	5.0	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956154	0.73902	.	.	ENSG00000185313	ENST00000449082	D	0.97529	-4.42	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.86740	2.835	0.48696	D	0.999693	P	0.40578	0.722	B	0.35413	0.202	D	0.97192	0.9858	10	0.87932	D	0	.	15.207	0.73186	1.0:0.0:0.0:0.0	.	147	Q9Y5Y9	SCNAA_HUMAN	T	147	ENSP00000390600:M147T	ENSP00000390600:M147T	M	-	2	0	SCN10A	38805481	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.437000	0.90302	2.181000	0.69327	0.528000	0.53228	ATG	.		0.393	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SEMA5B	54437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	122629075	122629075	+	Missense_Mutation	SNP	G	G	A	rs369693926		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr3:122629075G>A	ENST00000357599.3	-	23	3757	c.3371C>T	c.(3370-3372)aCg>aTg	p.T1124M	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T1178M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1124					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAAGTAGTCGTGTACACATT	0.542																																					p.T1178M		.											.	SEMA5B	157	0			c.C3533T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	206.0	173.0	184.0		3371	5.1	1.0	3		184	0,8600		0,0,4300	no	missense	SEMA5B	NM_001031702.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1124/1152	122629075	1,13005	2203	4300	6503	SO:0001583	missense	54437	exon23			GTAGTCGTGTACA	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3371C>T	3.37:g.122629075G>A	ENSP00000350215:p.Thr1124Met	620.0	0.0		704.0	231.0	NM_001256347	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323460|4.323460	0.81580|0.81580	2.27E-4|2.27E-4	0.0|0.0	ENSG00000082684|ENSG00000082684	ENST00000451541|ENST00000357599;ENST00000418793;ENST00000451055	.|T;T	.|0.37584	.|1.19;1.23	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.052354	.|0.85682	.|D	.|0.000000	.|T	.|0.48786	.|0.1519	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72338	.|0.977;0.95	.|T	.|0.46693	.|-0.9173	.|10	.|0.52906	.|T	.|0.07	.|.	17.1675|17.1675	0.86820|0.86820	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1030;1124	.|D3YTI7;Q9P283	.|.;SEM5B_HUMAN	X|M	170|1124;1030;1178	.|ENSP00000350215:T1124M;ENSP00000389588:T1178M	.|ENSP00000350215:T1124M	R|T	-|-	1|2	2|0	SEMA5B|SEMA5B	124111765|124111765	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.981000|0.981000	0.71138|0.71138	9.263000|9.263000	0.95617|0.95617	2.643000|2.643000	0.89663|0.89663	0.650000|0.650000	0.86243|0.86243	CGA|ACG	.		0.542	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
SERAC1	84947	ucsc.edu;bcgsc.ca	37	6	158535835	158535835	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr6:158535835T>C	ENST00000367104.3	-	15	1801	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	557					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCTGAGTTCTTTGACTTCCAA	0.358																																					p.K557R		.											.	SERAC1	90	0			c.A1670G						.						125.0	130.0	128.0					6																	158535835		2203	4300	6503	SO:0001583	missense	84947	exon15			AGTTCTTTGACTT	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1670A>G	6.37:g.158535835T>C	ENSP00000356071:p.Lys557Arg	111.0	0.0		46.0	4.0	NM_032861	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	.	14.78	2.636575	0.47049	.	.	ENSG00000122335	ENST00000367104;ENST00000435180	D;T	0.95137	-3.62;-0.09	6.08	6.08	0.98989	.	0.042715	0.85682	D	0.000000	D	0.85881	0.5800	N	0.25332	0.735	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.81777	-0.0777	10	0.27082	T	0.32	-33.2054	16.6438	0.85155	0.0:0.0:0.0:1.0	.	557	Q96JX3	SRAC1_HUMAN	R	557;132	ENSP00000356071:K557R;ENSP00000391168:K132R	ENSP00000356071:K557R	K	-	2	0	SERAC1	158455823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.657000	0.67996	2.333000	0.79357	0.533000	0.62120	AAA	.		0.358	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	
SGCA	6442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	48244792	48244792	+	Missense_Mutation	SNP	G	G	T	rs371675217		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr17:48244792G>T	ENST00000262018.3	+	2	137	c.101G>T	c.(100-102)cGt>cTt	p.R34L	SGCA_ENST00000344627.6_Missense_Mutation_p.R34L|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000543315.1_Missense_Mutation_p.R34L|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	34			R -> C (in LGMD2D). {ECO:0000269|PubMed:9192266}.|R -> H (in LGMD2D). {ECO:0000269|PubMed:7663524}.		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTGTGGGCCGTGTCTTTGTG	0.642																																					p.R34L		.											.	SGCA	92	0			c.G101T	GRCh37	CM951149	SGCA	M		.						104.0	87.0	92.0					17																	48244792		2203	4300	6503	SO:0001583	missense	6442	exon2			TGGGCCGTGTCTT	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.101G>T	17.37:g.48244792G>T	ENSP00000262018:p.Arg34Leu	130.0	0.0		219.0	51.0	NM_001135697	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857415	0.51376	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98531	-4.98;-4.98;-4.98	4.47	4.47	0.54385	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.144240	0.43579	D	0.000544	D	0.95990	0.8694	L	0.46157	1.445	0.80722	D	1	B;B	0.28636	0.218;0.004	B;B	0.26864	0.074;0.007	D	0.95008	0.8149	10	0.42905	T	0.14	-15.278	12.9801	0.58559	0.0:0.0:1.0:0.0	.	34;34	Q16586-2;Q16586	.;SGCA_HUMAN	L	34	ENSP00000345522:R34L;ENSP00000262018:R34L;ENSP00000444539:R34L	ENSP00000262018:R34L	R	+	2	0	SGCA	45599791	0.584000	0.26766	0.960000	0.40013	0.753000	0.42808	2.894000	0.48640	2.184000	0.69523	0.407000	0.27541	CGT	.		0.642	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023	
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38610466	38610466	+	Silent	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr19:38610466C>T	ENST00000222345.6	+	9	3321	c.2812C>T	c.(2812-2814)Cta>Tta	p.L938L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	938					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACATCTTCCTACAGGCGAC	0.532																																					p.L938L		.											.	SIPA1L3	91	0			c.C2812T						.						44.0	47.0	46.0					19																	38610466		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon9			ATCTTCCTACAGG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2812C>T	19.37:g.38610466C>T		47.0	0.0		76.0	31.0	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
SLC4A8	9498	broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	51863457	51863457	+	Missense_Mutation	SNP	A	A	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr12:51863457A>C	ENST00000453097.2	+	12	1626	c.1409A>C	c.(1408-1410)tAc>tCc	p.Y470S	SLC4A8_ENST00000535225.2_Missense_Mutation_p.Y417S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.Y417S|SLC4A8_ENST00000394856.1_Missense_Mutation_p.Y417S|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Y497S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGAGCGACTACCGAGATGCA	0.542																																					p.Y470S		.											.	SLC4A8	95	0			c.A1409C						.						241.0	196.0	211.0					12																	51863457		2203	4300	6503	SO:0001583	missense	9498	exon12			GCGACTACCGAGA	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1409A>C	12.37:g.51863457A>C	ENSP00000405812:p.Tyr470Ser	548.0	2.0		522.0	49.0	NM_001039960		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799582	0.70567	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.5	4.28	0.50868	Bicarbonate transporter, C-terminal (1);	0.103576	0.64402	D	0.000003	D	0.84687	0.5527	M	0.79693	2.465	0.46260	D	0.998951	D;P;P;P;P;P	0.58970	0.984;0.727;0.952;0.599;0.545;0.69	P;B;P;P;B;P	0.59288	0.855;0.306;0.791;0.552;0.34;0.513	D	0.86321	0.1692	10	0.87932	D	0	.	9.7546	0.40496	0.7751:0.0:0.0:0.2249	.	417;497;417;470;470;470	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	S	417;497;470;417;470;417;417	ENSP00000441520:Y417S;ENSP00000351483:Y497S;ENSP00000405812:Y470S;ENSP00000378325:Y417S;ENSP00000442561:Y417S	ENSP00000315789:Y470S	Y	+	2	0	SLC4A8	50149724	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	2.185000	0.42584	2.228000	0.72767	0.533000	0.62120	TAC	.		0.542	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
SLCO2B1	11309	broad.mit.edu;bcgsc.ca	37	11	74904564	74904564	+	Silent	SNP	G	G	A	rs375053508		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:74904564G>A	ENST00000289575.5	+	9	1772	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	SLCO2B1_ENST00000341411.4_Silent_p.P232P|SLCO2B1_ENST00000525650.1_Silent_p.P315P|SLCO2B1_ENST00000532236.1_Silent_p.P343P|SLCO2B1_ENST00000428359.2_Silent_p.P437P|SLCO2B1_ENST00000531756.1_Silent_p.P204P|SLCO2B1_ENST00000454962.2_Silent_p.P232P	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	459					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TCAGCCTGCCGCTCTTCTTTA	0.632																																					p.P459P		.											.	SLCO2B1	154	0			c.G1377A						.	G	,,	1,4399	2.1+/-5.4	0,1,2199	41.0	35.0	37.0		1311,945,1377	-5.2	1.0	11		37	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	SLCO2B1	NM_001145211.2,NM_001145212.2,NM_007256.4	,,	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	,,	437/688,315/566,459/710	74904564	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	11309	exon9			CCTGCCGCTCTTC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1377G>A	11.37:g.74904564G>A		159.0	0.0		211.0	10.0	NM_007256	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	CCDS8235.1																																																																																			.		0.632	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
SLX4IP	128710	broad.mit.edu;bcgsc.ca	37	20	10603454	10603454	+	Silent	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr20:10603454C>T	ENST00000334534.5	+	8	834	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	218																	CATCAGAATCCATGGGACAAG	0.493																																					p.S218S		.											.	.	.	0			c.C654T						.						69.0	66.0	67.0					20																	10603454		2203	4300	6503	SO:0001819	synonymous_variant	128710	exon8			AGAATCCATGGGA	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.654C>T	20.37:g.10603454C>T		54.0	0.0		68.0	5.0	NM_001009608	Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	CCDS33439.1																																																																																			.		0.493	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608	
SMC1A	8243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53409455	53409455	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chrX:53409455T>A	ENST00000322213.4	-	21	3384	c.3257A>T	c.(3256-3258)aAg>aTg	p.K1086M	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1086					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGACAGGGCCTTATAGATCTC	0.522																																					p.K1086M		.											.	SMC1A	232	0			c.A3257T						.						76.0	61.0	66.0					X																	53409455		2203	4300	6503	SO:0001583	missense	8243	exon21			AGGGCCTTATAGA	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3257A>T	X.37:g.53409455T>A	ENSP00000323421:p.Lys1086Met	137.0	0.0		139.0	37.0	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226692	0.79576	.	.	ENSG00000072501	ENST00000322213	T	0.79845	-1.31	5.45	5.45	0.79879	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93744	0.7053	10	0.87932	D	0	.	13.6717	0.62430	0.0:0.0:0.0:1.0	.	1086	Q14683	SMC1A_HUMAN	M	1086	ENSP00000323421:K1086M	ENSP00000323421:K1086M	K	-	2	0	SMC1A	53426180	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.162000	0.71874	1.940000	0.56252	0.486000	0.48141	AAG	.		0.522	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
STXBP3	6814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	109339272	109339272	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:109339272T>A	ENST00000370008.3	+	15	1330	c.1280T>A	c.(1279-1281)aTc>aAc	p.I427N		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	427					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GACAGGTTGATCCAGAATGTA	0.358																																					p.I427N		.											.	STXBP3	93	0			c.T1280A						.						137.0	134.0	135.0					1																	109339272		2203	4300	6503	SO:0001583	missense	6814	exon15			GGTTGATCCAGAA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1280T>A	1.37:g.109339272T>A	ENSP00000359025:p.Ile427Asn	230.0	0.0		208.0	61.0	NM_007269	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422713	0.83559	.	.	ENSG00000116266	ENST00000370008	T	0.79141	-1.24	5.44	5.44	0.79542	.	0.149746	0.64402	D	0.000017	T	0.77758	0.4178	M	0.78049	2.395	0.58432	D	0.999996	B	0.27765	0.188	B	0.40101	0.319	T	0.80462	-0.1372	10	0.72032	D	0.01	-1.0014	15.4851	0.75560	0.0:0.0:0.0:1.0	.	427	O00186	STXB3_HUMAN	N	427	ENSP00000359025:I427N	ENSP00000359025:I427N	I	+	2	0	STXBP3	109140795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.999000	0.76283	2.060000	0.61445	0.383000	0.25322	ATC	.		0.358	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	
SUV420H1	51111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	67957441	67957441	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr11:67957441T>A	ENST00000304363.4	-	2	456	c.103A>T	c.(103-105)Acg>Tcg	p.T35S	SUV420H1_ENST00000402789.1_Missense_Mutation_p.T35S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.T35S|SUV420H1_ENST00000401547.2_Missense_Mutation_p.T35S|SUV420H1_ENST00000405515.1_Missense_Mutation_p.T35S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	35					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCCTTCCCCGTGTGCTGTAAT	0.453																																					p.T35S		.											.	SUV420H1	228	0			c.A103T						.						370.0	320.0	337.0					11																	67957441		2200	4294	6494	SO:0001583	missense	51111	exon2			TCCCCGTGTGCTG	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.103A>T	11.37:g.67957441T>A	ENSP00000305899:p.Thr35Ser	538.0	0.0		462.0	122.0	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210418	0.09757	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.40476	1.04;1.04;1.04;1.04;1.03;1.04	5.77	-11.5	0.00074	.	1.182760	0.05656	N	0.586013	T	0.19967	0.0480	L	0.29908	0.895	0.18873	N	0.999987	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.06463	-1.0825	10	0.08179	T	0.78	0.5301	5.4972	0.16809	0.3645:0.3961:0.1218:0.1176	.	35;35;35;35	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	S	35	ENSP00000305899:T35S;ENSP00000385965:T35S;ENSP00000385640:T35S;ENSP00000385005:T35S;ENSP00000384724:T35S;ENSP00000402921:T35S	ENSP00000305899:T35S	T	-	1	0	SUV420H1	67714017	0.000000	0.05858	0.002000	0.10522	0.950000	0.60333	-3.146000	0.00584	-4.185000	0.00066	-0.386000	0.06593	ACG	.		0.453	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
TCEANC2	127428	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	54520147	54520148	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:54520147_54520148insT	ENST00000234827.1	+	2	252_253	c.52_53insT	c.(52-54)aaafs	p.K18fs	TCEANC2_ENST00000371331.1_Frame_Shift_Ins_p.K48fs|TMEM59_ENST00000234831.5_5'Flank|TMEM59_ENST00000371341.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371337.3_5'Flank|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	18					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						CCCTCAGAAGAAAGATTCTGGA	0.485																																					p.K18fs		.											.	TCEANC2	91	0			c.52_53insT						.																																			SO:0001589	frameshift_variant	127428	exon2			CAGAAGAAAGATT	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	Exception_encountered	1.37:g.54520147_54520148insT	ENSP00000234827:p.Lys18fs	110.0	0.0		151.0	43.0	NM_153035	Q5T702|Q8N8N2	Frame_Shift_Ins	INS	ENST00000234827.1	37	CCDS587.1																																																																																			.		0.485	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035	
TMC1	117531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	75355074	75355074	+	Silent	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:75355074T>A	ENST00000297784.5	+	9	942	c.402T>A	c.(400-402)ctT>ctA	p.L134L	TMC1_ENST00000340019.3_Silent_p.L134L|TMC1_ENST00000396237.3_Silent_p.L134L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	134	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGGGGCTCTTGGGAAAGGAA	0.373																																					p.L134L	Pancreas(75;173 1345 14232 34245 43413)	.											.	TMC1	91	0			c.T402A						.						103.0	106.0	105.0					9																	75355074		2203	4300	6503	SO:0001819	synonymous_variant	117531	exon9			GGCTCTTGGGAAA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.402T>A	9.37:g.75355074T>A		271.0	0.0		275.0	67.0	NM_138691	A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	CCDS6643.1																																																																																			.		0.373	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
TMEM260	54916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	57075883	57075883	+	Silent	SNP	C	C	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr14:57075883C>G	ENST00000261556.6	+	6	818	c.696C>G	c.(694-696)ccC>ccG	p.P232P	TMEM260_ENST00000538838.1_Silent_p.P232P|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	232						integral component of membrane (GO:0016021)											GTTTGCTGCCCTATGTCCACC	0.478																																					p.P232P		.											.	.	.	0			c.C696G						.						309.0	295.0	300.0					14																	57075883		2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			GCTGCCCTATGTC	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.696C>G	14.37:g.57075883C>G		582.0	0.0		610.0	133.0	NM_017799	A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	CCDS9727.2																																																																																			.		0.478	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
TMPRSS7	344805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	111797619	111797619	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr3:111797619C>T	ENST00000452346.2	+	17	2258	c.2255C>T	c.(2254-2256)gCg>gTg	p.A752V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.A626V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	752	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTGCAGCAAGCGGAGGTAGAG	0.463																																					p.A626V		.											.	TMPRSS7	70	0			c.C1877T						.						112.0	111.0	112.0					3																	111797619		1942	4131	6073	SO:0001583	missense	344805	exon15			AGCAAGCGGAGGT	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2255C>T	3.37:g.111797619C>T	ENSP00000398236:p.Ala752Val	218.0	0.0		231.0	64.0	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.518493	0.96416	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.58940	0.3;0.3	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	N	0.02765	-0.5	0.58432	D	0.999997	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.794	T	0.64968	-0.6282	10	0.39692	T	0.17	.	16.9482	0.86236	0.0:1.0:0.0:0.0	.	752;626	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	752;740;726;626	ENSP00000398236:A752V;ENSP00000411645:A626V	ENSP00000411645:A626V	A	+	2	0	TMPRSS7	113280309	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.884000	0.75600	2.716000	0.92895	0.655000	0.94253	GCG	.		0.463	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
TNKS	8658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	9627614	9627614	+	Splice_Site	SNP	A	A	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr8:9627614A>T	ENST00000310430.6	+	26	3766		c.e26-1		TNKS_ENST00000518281.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTTTTTCCTTAGACAAATGCT	0.373																																					.		.											.	TNKS	660	0			c.3741-2A>T						.						45.0	48.0	47.0					8																	9627614		2202	4300	6502	SO:0001630	splice_region_variant	8658	exon26			TTCCTTAGACAAA	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3741-1A>T	8.37:g.9627614A>T		28.0	0.0		38.0	21.0	NM_003747	O95272|Q4G0F2	Splice_Site	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914815	0.72983	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7698	0.78157	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS	9665024	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	9.287000	0.95975	2.189000	0.69895	0.533000	0.62120	.	.		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	Intron
TOPORS	10210	ucsc.edu;bcgsc.ca	37	9	32544214	32544214	+	Silent	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:32544214A>G	ENST00000360538.2	-	3	425	c.309T>C	c.(307-309)tgT>tgC	p.C103C	TOPORS_ENST00000379858.1_Silent_p.C38C	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	103	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGCATATAGGACACTTAGAAT	0.398																																					p.C103C		.											.	TOPORS	230	0			c.T309C						.						90.0	92.0	91.0					9																	32544214		2203	4300	6503	SO:0001819	synonymous_variant	10210	exon3			TATAGGACACTTA	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.309T>C	9.37:g.32544214A>G		40.0	0.0		46.0	4.0	NM_005802	O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	CCDS6527.1																																																																																			.		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TRPM3	80036	ucsc.edu;bcgsc.ca	37	9	73253992	73253992	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr9:73253992T>C	ENST00000377111.2	-	11	1808	c.1565A>G	c.(1564-1566)gAg>gGg	p.E522G	TRPM3_ENST00000377105.1_Missense_Mutation_p.E369G|TRPM3_ENST00000377110.3_Missense_Mutation_p.E522G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E394G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E394G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E369G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E394G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E549G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E394G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E369G|TRPM3_ENST00000357533.2_Missense_Mutation_p.E524G|TRPM3_ENST00000396280.5_Missense_Mutation_p.E369G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	547					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTACAATTCCTCTAGTCTGGA	0.418																																					p.E522G		.											.	TRPM3	521	0			c.A1565G						.						138.0	133.0	135.0					9																	73253992		2203	4300	6503	SO:0001583	missense	80036	exon11			AATTCCTCTAGTC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1565A>G	9.37:g.73253992T>C	ENSP00000366315:p.Glu522Gly	78.0	0.0		45.0	4.0	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	T	23.7	4.445494	0.84101	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.90870	3.155	0.54753	D	0.999989	D;D;D;D;D;D;D;P	0.89917	0.99;1.0;0.997;0.999;0.999;0.999;1.0;0.58	D;D;P;D;D;D;D;B	0.91635	0.941;0.991;0.885;0.999;0.978;0.987;0.998;0.253	T	0.76623	-0.2891	10	0.72032	D	0.01	-25.8908	16.0664	0.80878	0.0:0.0:0.0:1.0	.	547;522;522;522;524;394;369;369	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.	G	522;522;394;394;369;524;369;369;394;394;549	ENSP00000366315:E522G;ENSP00000366314:E522G;ENSP00000366310:E394G;ENSP00000354066:E394G;ENSP00000366309:E369G;ENSP00000350140:E524G;ENSP00000386127:E369G;ENSP00000379581:E369G;ENSP00000379587:E394G;ENSP00000350791:E394G;ENSP00000389542:E549G	ENSP00000350140:E524G	E	-	2	0	TRPM3	72443812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	GAG	.		0.418	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TUFT1	7286	broad.mit.edu;bcgsc.ca	37	1	151553434	151553434	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr1:151553434A>G	ENST00000368849.3	+	12	1087	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G	TUFT1_ENST00000538902.1_Missense_Mutation_p.D361G|TUFT1_ENST00000392712.3_Missense_Mutation_p.D287G|TUFT1_ENST00000353024.3_Missense_Mutation_p.D283G|TUFT1_ENST00000368848.2_Missense_Mutation_p.D317G	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	342					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGATGCATGACCGGATGGAA	0.522																																					p.D342G		.											.	TUFT1	90	0			c.A1025G						.						83.0	81.0	82.0					1																	151553434		2203	4300	6503	SO:0001583	missense	7286	exon12			TGCATGACCGGAT	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1025A>G	1.37:g.151553434A>G	ENSP00000357842:p.Asp342Gly	77.0	0.0		84.0	6.0	NM_020127	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369101	0.61624	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.65	4.65	0.58169	.	0.154096	0.56097	D	0.000023	T	0.34803	0.0910	M	0.64404	1.975	0.58432	D	0.999997	P;P;P	0.48503	0.911;0.64;0.554	P;P;P	0.53360	0.665;0.5;0.724	T	0.14980	-1.0453	10	0.44086	T	0.13	-15.6488	10.386	0.44140	1.0:0.0:0.0:0.0	.	361;317;342	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	G	342;287;283;317;361	ENSP00000357842:D342G;ENSP00000376476:D287G;ENSP00000343781:D283G;ENSP00000357841:D317G;ENSP00000437997:D361G	ENSP00000343781:D283G	D	+	2	0	TUFT1	149820058	1.000000	0.71417	0.961000	0.40146	0.458000	0.32498	7.267000	0.78462	1.957000	0.56846	0.459000	0.35465	GAC	.		0.522	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127	
TYW1	55253	hgsc.bcm.edu;bcgsc.ca	37	7	66582482	66582482	+	Silent	SNP	G	G	A	rs13221716		TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr7:66582482G>A	ENST00000359626.5	+	13	1739	c.1575G>A	c.(1573-1575)ccG>ccA	p.P525P		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	525					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACCTCGAGCCGGTTACTCAGC	0.398																																					p.P525P		.											.	TYW1	91	0			c.G1575A						.						73.0	72.0	72.0					7																	66582482		2203	4300	6503	SO:0001819	synonymous_variant	55253	exon13			CGAGCCGGTTACT	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1575G>A	7.37:g.66582482G>A		186.0	0.0		198.0	8.0	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																			.		0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
USP37	57695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	219423315	219423315	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr2:219423315delT	ENST00000258399.3	-	4	474	c.62delA	c.(61-63)aagfs	p.K21fs	USP37_ENST00000338465.5_Frame_Shift_Del_p.K21fs|USP37_ENST00000418019.1_Frame_Shift_Del_p.K21fs|USP37_ENST00000415516.1_Intron|USP37_ENST00000454775.1_Frame_Shift_Del_p.K21fs	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	21					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTCTTTCCACTTTGTAATCCC	0.343																																					p.K21fs		.											.	USP37	661	0			c.62delA						.						169.0	179.0	176.0					2																	219423315		2203	4300	6503	SO:0001589	frameshift_variant	57695	exon4			TTCCACTTTGTAA	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.62delA	2.37:g.219423315delT	ENSP00000258399:p.Lys21fs	335.0	0.0		301.0	86.0	NM_020935	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Frame_Shift_Del	DEL	ENST00000258399.3	37	CCDS2418.1																																																																																			.		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	
VPS36	51028	ucsc.edu;bcgsc.ca	37	13	52997746	52997746	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr13:52997746T>C	ENST00000378060.4	-	10	830	c.803A>G	c.(802-804)gAg>gGg	p.E268G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	268					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GCAGTACACCTCCGTGAGTGA	0.323																																					p.E268G		.											.	VPS36	91	0			c.A803G						.						119.0	121.0	121.0					13																	52997746		2203	4300	6503	SO:0001583	missense	51028	exon10			TACACCTCCGTGA	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.803A>G	13.37:g.52997746T>C	ENSP00000367299:p.Glu268Gly	73.0	0.0		34.0	4.0	NM_016075	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.918257	0.92249	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.54323	1.7	0.80722	D	1	D	0.62365	0.991	P	0.54431	0.752	T	0.69888	-0.5023	9	0.87932	D	0	-1.1582	15.5295	0.75942	0.0:0.0:0.0:1.0	.	268	Q86VN1	VPS36_HUMAN	G	268	.	ENSP00000367299:E268G	E	-	2	0	VPS36	51895747	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	6.899000	0.75682	2.254000	0.74563	0.533000	0.62120	GAG	.		0.323	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		
ZFC3H1	196441	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	72057379	72057379	+	Silent	SNP	T	T	A			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr12:72057379T>A	ENST00000378743.3	-	1	370	c.12A>T	c.(10-12)gcA>gcT	p.A4A	ZFC3H1_ENST00000548100.1_Silent_p.A4A|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Silent_p.A4A|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	4					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGGAGTATCTGCGGTCGCCA	0.597											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A4A		.											.	ZFC3H1	138	0			c.A12T						.						62.0	75.0	71.0					12																	72057379		2047	4193	6240	SO:0001819	synonymous_variant	196441	exon1			AGTATCTGCGGTC	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.12A>T	12.37:g.72057379T>A		35.0	0.0	1134	43.0	10.0	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	CCDS41813.1																																																																																			.		0.597	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZNF518B	85460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	10446101	10446101	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5260-01A-01D-A12Z-10	TCGA-CC-5260-10B-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3bacc189-01b8-46cc-a442-f393c0f428c6	bf471c04-91b1-4ccc-9cd2-101b7f008edc	g.chr4:10446101A>T	ENST00000326756.3	-	3	2290	c.1852T>A	c.(1852-1854)Tta>Ata	p.L618I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	618					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAATTCTTTAATTCCAAAGGC	0.398																																					p.L618I		.											.	ZNF518B	72	0			c.T1852A						.						144.0	144.0	144.0					4																	10446101		2203	4300	6503	SO:0001583	missense	85460	exon3			TCTTTAATTCCAA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1852T>A	4.37:g.10446101A>T	ENSP00000317614:p.Leu618Ile	403.0	1.0		293.0	77.0	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446832	0.63178	.	.	ENSG00000178163	ENST00000326756	T	0.01902	4.57	6.06	-10.4	0.00318	.	0.495160	0.13666	N	0.371205	T	0.02267	0.0070	L	0.42245	1.32	0.09310	N	1	P	0.42456	0.78	B	0.36666	0.23	T	0.09552	-1.0669	10	0.51188	T	0.08	-0.1159	20.4514	0.99126	0.1311:0.0867:0.7822:0.0	.	618	Q9C0D4	Z518B_HUMAN	I	618	ENSP00000317614:L618I	ENSP00000317614:L618I	L	-	1	2	ZNF518B	10055199	0.000000	0.05858	0.000000	0.03702	0.599000	0.36880	-0.202000	0.09451	-1.789000	0.01264	-0.250000	0.11733	TTA	.		0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
