#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CASZ1	54897	broad.mit.edu	37	1	10714185	10714185	+	Missense_Mutation	SNP	G	G	T	rs377121758		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:10714185G>T	ENST00000377022.3	-	11	2246	c.1929C>A	c.(1927-1929)gaC>gaA	p.D643E	CASZ1_ENST00000344008.5_Missense_Mutation_p.D643E|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	643					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTTGAAGCCGTCCTTGGCGT	0.562																																					p.D643E													.	CASZ1-113	0			c.C1929A						.						136.0	126.0	130.0					1																	10714185		2203	4300	6503	SO:0001583	missense	54897	exon11			GAAGCCGTCCTTG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1929C>A	1.37:g.10714185G>T	ENSP00000366221:p.Asp643Glu	Somatic	120	0		WXS	Illumina HiSeq	Phase_I	96	4	NM_001079843	0	0	3	3	0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882411	0.72294	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.84	-1.82	0.07857	.	0.136617	0.64402	D	0.000004	T	0.60444	0.2269	L	0.39397	1.21	0.43018	D	0.994564	P;P;D	0.76494	0.916;0.951;0.999	P;P;D	0.85130	0.72;0.72;0.997	T	0.56032	-0.8046	9	0.18710	T	0.47	-36.0167	12.0394	0.53444	0.5645:0.0:0.4355:0.0	.	667;643;643	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	E	643	.	ENSP00000339445:D643E	D	-	3	2	CASZ1	10636772	0.542000	0.26426	0.982000	0.44146	0.998000	0.95712	-0.024000	0.12435	-0.435000	0.07264	0.561000	0.74099	GAC	.		0.562	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
KIAA0754	643314	broad.mit.edu	37	1	39879055	39879055	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:39879055A>G	ENST00000530275.1	+	1	2905	c.2710A>G	c.(2710-2712)Acc>Gcc	p.T904A	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	904	Ala-rich.							p.T904A(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			AGAGGAGCCCACCTCCCCAGC	0.721																																					p.T1040A													.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3118G						.						3.0	4.0	4.0					1																	39879055		1652	3673	5325	SO:0001583	missense	643314	exon1			GAGCCCACCTCCC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2710A>G	1.37:g.39879055A>G	ENSP00000431179:p.Thr904Ala	Somatic	51	1		WXS	Illumina HiSeq	Phase_I	52	8	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	a	0.018	-1.486764	0.01018	.	.	ENSG00000255103	ENST00000530275	T	0.21543	2.0	4.34	-4.58	0.03410	.	.	.	.	.	T	0.06234	0.0161	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39035	-0.9633	9	0.08381	T	0.77	.	2.8824	0.05652	0.3663:0.1097:0.4125:0.1114	.	904	O94854	K0754_HUMAN	A	904	ENSP00000431179:T904A	ENSP00000431179:T904A	T	+	1	0	RP4-562N20.1	39651642	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	0.349000	0.20055	-0.695000	0.05105	-2.895000	0.00094	ACC	.		0.721	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
CTTNBP2NL	55917	broad.mit.edu	37	1	112999438	112999438	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:112999438G>T	ENST00000271277.6	+	6	1549	c.1324G>T	c.(1324-1326)Gct>Tct	p.A442S		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	442					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTCATCAGCTAGCAGCCC	0.542																																					p.A442S													.	CTTNBP2NL-92	0			c.G1324T						.						229.0	234.0	232.0					1																	112999438		2203	4300	6503	SO:0001583	missense	55917	exon6			TCATCAGCTAGCA	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1324G>T	1.37:g.112999438G>T	ENSP00000271277:p.Ala442Ser	Somatic	79	0		WXS	Illumina HiSeq	Phase_I	67	3	NM_018704	0	0	0	0	0	B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683704	0.14907	.	.	ENSG00000143079	ENST00000271277	T	0.22134	1.97	5.56	5.56	0.83823	.	0.227351	0.47852	D	0.000204	T	0.08447	0.0210	L	0.35414	1.06	0.46499	D	0.999075	B	0.20052	0.041	B	0.19666	0.026	T	0.11227	-1.0596	10	0.09338	T	0.73	-9.3431	19.1035	0.93283	0.0:0.0:1.0:0.0	.	442	Q9P2B4	CT2NL_HUMAN	S	442	ENSP00000271277:A442S	ENSP00000271277:A442S	A	+	1	0	CTTNBP2NL	112800961	0.987000	0.35691	0.752000	0.31206	0.804000	0.45430	6.778000	0.75043	2.609000	0.88269	0.462000	0.41574	GCT	.		0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704	
LRRC71	149499	broad.mit.edu	37	1	156897772	156897772	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:156897772A>G	ENST00000337428.7	+	9	1126	c.972A>G	c.(970-972)aaA>aaG	p.K324K	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	324										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGCTGGAAAAAGGGACACAGG	0.677											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K324K													.	LRRC71-91	0			c.A972G						.						25.0	37.0	33.0					1																	156897772		1978	4130	6108	SO:0001819	synonymous_variant	149499	exon9			GGAAAAAGGGACA	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.972A>G	1.37:g.156897772A>G		Somatic	313	3	1782	WXS	Illumina HiSeq	Phase_I	329	5	NM_144702	0	0	0	0	0	Q96M24	Silent	SNP	ENST00000337428.7	37	CCDS44249.1																																																																																			.		0.677	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702	
C1orf112	55732	bcgsc.ca	37	1	169771829	169771829	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:169771829A>T	ENST00000286031.6	+	4	834	c.134A>T	c.(133-135)aAt>aTt	p.N45I	C1orf112_ENST00000359326.4_Missense_Mutation_p.N45I|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.N16I|C1orf112_ENST00000456684.1_Missense_Mutation_p.N103I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	45										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAAGCCAAAATTTGGAAATC	0.328																																					p.N45I													.	C1orf112-90	0			c.A134T						.						68.0	72.0	71.0					1																	169771829		2203	4297	6500	SO:0001583	missense	55732	exon4			GCCAAAATTTGGA	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.134A>T	1.37:g.169771829A>T	ENSP00000286031:p.Asn45Ile	Somatic	258	5		WXS	Illumina HiSeq	Phase_1	235	73	NM_018186	0	0	0	0	0	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.700017	0.88924	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.69561	0.57;-0.41;0.57	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.77616	2.38	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.82143	-0.0603	10	0.87932	D	0	-23.1688	15.1562	0.72743	1.0:0.0:0.0:0.0	.	16;45;103	B4E0A9;Q9NSG2;B4DRP7	.;CA112_HUMAN;.	I	16;45;103;45	ENSP00000352276:N45I;ENSP00000415583:N103I;ENSP00000286031:N45I	ENSP00000286031:N45I	N	+	2	0	C1orf112	168038453	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.430000	0.73391	2.251000	0.74343	0.528000	0.53228	AAT	.		0.328	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
HMCN1	83872	broad.mit.edu	37	1	186023105	186023105	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:186023105T>G	ENST00000271588.4	+	44	7078	c.6849T>G	c.(6847-6849)aaT>aaG	p.N2283K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2283K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2283	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAATACAATCTGCAAGTTT	0.363																																					p.N2283K													.	HMCN1-113	0			c.T6849G						.						102.0	102.0	102.0					1																	186023105		2203	4300	6503	SO:0001583	missense	83872	exon44			ATACAATCTGCAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6849T>G	1.37:g.186023105T>G	ENSP00000271588:p.Asn2283Lys	Somatic	42	1		WXS	Illumina HiSeq	Phase_I	45	12	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	0.116	-1.131462	0.01756	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	4.93	1.27	0.21489	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.656047	0.17688	N	0.165378	T	0.39733	0.1089	L	0.33339	1.005	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27806	-1.0063	10	0.05525	T	0.97	.	5.3345	0.15949	0.0:0.2528:0.1406:0.6066	.	2283	Q96RW7	HMCN1_HUMAN	K	2283	ENSP00000271588:N2283K;ENSP00000356462:N2283K	ENSP00000271588:N2283K	N	+	3	2	HMCN1	184289728	0.012000	0.17670	0.020000	0.16555	0.527000	0.34593	0.684000	0.25364	0.024000	0.15214	0.338000	0.21704	AAT	.		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PIK3C2B	5287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	204413511	204413511	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:204413511A>G	ENST00000367187.3	-	18	3276	c.2720T>C	c.(2719-2721)aTt>aCt	p.I907T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.I879T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	907	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGTGAGCCAATCCACTGCAC	0.582																																					p.I907T		.											.	PIK3C2B-1310	0			c.T2720C						.						83.0	68.0	73.0					1																	204413511		2203	4300	6503	SO:0001583	missense	5287	exon18			GAGCCAATCCACT	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2720T>C	1.37:g.204413511A>G	ENSP00000356155:p.Ile907Thr	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	43	23	NM_002646	0	0	0	1	1	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730234	0.89390	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.67345	-0.26;-0.26	5.98	5.98	0.97165	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.045667	0.85682	D	0.000000	D	0.82559	0.5063	M	0.85197	2.74	0.51482	D	0.999921	D;D	0.61697	0.98;0.99	P;P	0.62885	0.908;0.903	D	0.85512	0.1198	10	0.87932	D	0	.	16.1192	0.81329	1.0:0.0:0.0:0.0	.	879;907	F5GWN5;O00750	.;P3C2B_HUMAN	T	907;879	ENSP00000356155:I907T;ENSP00000400561:I879T	ENSP00000356155:I907T	I	-	2	0	PIK3C2B	202680134	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.339000	0.96797	2.288000	0.76882	0.482000	0.46254	ATT	.		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642																																					p.G428S													.	HLX-70	1	Deletion - In frame(1)	large_intestine(1)	c.G1282A						.						25.0	24.0	25.0					1																	221057861		2203	4300	6503	SO:0001583	missense	3142	exon4			AGCAGCGGCGGCG	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1282G>A	1.37:g.221057861G>A	ENSP00000355870:p.Gly428Ser	Somatic	84	0		WXS	Illumina HiSeq	Phase_I	96	3	NM_021958	0	0	1	1	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198731	0.38806	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91996	-2.65;-2.95	2.86	-0.687	0.11320	.	0.951617	0.08586	N	0.923819	T	0.78483	0.4290	N	0.14661	0.345	0.23320	N	0.997912	B	0.10296	0.003	B	0.06405	0.002	T	0.65689	-0.6107	10	0.02654	T	1	.	3.3157	0.07032	0.4133:0.2112:0.3755:0.0	.	428	Q14774	HLX_HUMAN	S	428;214	ENSP00000355870:G428S;ENSP00000449882:G214S	ENSP00000355870:G428S	G	+	1	0	HLX	219124484	0.977000	0.34250	0.038000	0.18304	0.016000	0.09150	1.135000	0.31454	0.081000	0.16988	-0.291000	0.09656	GGC	.		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
TLR5	7100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	223286235	223286235	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:223286235T>A	ENST00000540964.1	-	4	600	c.139A>T	c.(139-141)Acc>Tcc	p.T47S	TLR5_ENST00000342210.6_Missense_Mutation_p.T47S			O60602	TLR5_HUMAN	toll-like receptor 5	47					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTCAGTGGTGTTGAGGACC	0.547																																					p.T47S		.											.	TLR5-525	0			c.A139T						.						62.0	63.0	62.0					1																	223286235		2203	4300	6503	SO:0001583	missense	7100	exon6			CAGTGGTGTTGAG		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.139A>T	1.37:g.223286235T>A	ENSP00000440643:p.Thr47Ser	Somatic	140	0		WXS	Illumina HiSeq	Phase_I	168	70	NM_003268	0	0	0	0	0	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480409	0.26598	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.82526	-1.62;-1.62;-1.62	4.75	3.6	0.41247	.	0.354369	0.30510	N	0.009461	T	0.70430	0.3223	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.50516	-0.8819	10	0.09084	T	0.74	.	3.4825	0.07607	0.0:0.2019:0.2085:0.5896	.	47	O60602	TLR5_HUMAN	S	47	ENSP00000440643:T47S;ENSP00000355846:T47S;ENSP00000340089:T47S	ENSP00000340089:T47S	T	-	1	0	TLR5	221352858	0.318000	0.24598	0.004000	0.12327	0.995000	0.86356	0.650000	0.24858	0.751000	0.32900	0.533000	0.62120	ACC	.		0.547	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
SIPA1L2	57568	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	232539257	232539257	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:232539257C>T	ENST00000366630.1	-	20	5235	c.4877G>A	c.(4876-4878)gGg>gAg	p.G1626E	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G682E|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G1626E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1626					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCTTGGGCCCCTTCCAGGTC	0.562																																					p.G1626E													.	SIPA1L2-95	0			c.G4877A						.						64.0	71.0	69.0					1																	232539257		1959	4156	6115	SO:0001583	missense	57568	exon19			TGGGCCCCTTCCA	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4877G>A	1.37:g.232539257C>T	ENSP00000355589:p.Gly1626Glu	Somatic	67	1		WXS	Illumina HiSeq	Phase_I	61	26	NM_020808	0	0	0	1	1	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	5.973	0.363555	0.11296	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.29397	1.57;1.57;1.57	5.04	3.16	0.36331	.	0.545601	0.19376	N	0.115763	T	0.15046	0.0363	N	0.16478	0.41	0.33489	D	0.588516	B;B	0.20052	0.002;0.041	B;B	0.17722	0.019;0.011	T	0.20571	-1.0271	10	0.14656	T	0.56	-10.7471	5.5271	0.16964	0.0:0.6269:0.1476:0.2255	.	1626;682	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	E	1626;1626;682	ENSP00000355589:G1626E;ENSP00000262861:G1626E;ENSP00000309102:G682E	ENSP00000262861:G1626E	G	-	2	0	SIPA1L2	230605880	0.978000	0.34361	0.987000	0.45799	0.992000	0.81027	2.333000	0.43912	0.723000	0.32274	0.644000	0.83932	GGG	.		0.562	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
MAP3K8	1326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	30748425	30748425	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr10:30748425T>G	ENST00000263056.1	+	8	1964	c.1268T>G	c.(1267-1269)aTt>aGt	p.I423S	MAP3K8_ENST00000375321.1_Missense_Mutation_p.I423S|MAP3K8_ENST00000542547.1_Missense_Mutation_p.I423S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	423			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTGAGAACATTGCTGGTAGG	0.527																																					p.I423S		.											.	MAP3K8-981	0			c.T1268G						.						70.0	62.0	65.0					10																	30748425		2203	4300	6503	SO:0001583	missense	1326	exon7			AGAACATTGCTGG	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1268T>G	10.37:g.30748425T>G	ENSP00000263056:p.Ile423Ser	Somatic	48	0		WXS	Illumina HiSeq	Phase_I	42	17	NM_001244134	0	0	0	0	0	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944339	0.53079	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.70749	-0.51;-0.51;-0.51	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.048008	0.85682	D	0.000000	T	0.52517	0.1739	N	0.24115	0.695	0.80722	D	1	P	0.35575	0.51	B	0.32211	0.142	T	0.52638	-0.8549	10	0.08599	T	0.76	.	14.5659	0.68176	0.0:0.0:0.0:1.0	.	423	P41279	M3K8_HUMAN	S	423	ENSP00000263056:I423S;ENSP00000443610:I423S;ENSP00000364470:I423S	ENSP00000263056:I423S	I	+	2	0	MAP3K8	30788431	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	5.323000	0.65858	1.850000	0.53721	0.519000	0.50382	ATT	.		0.527	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	
DNHD1	144132	hgsc.bcm.edu	37	11	6592937	6592937	+	Silent	SNP	G	G	T	rs544585664		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:6592937G>T	ENST00000527990.2	+	41	13983	c.13983G>T	c.(13981-13983)gcG>gcT	p.A4661A	DNHD1_ENST00000254579.6_Silent_p.A4661A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4661					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCCTACATGCGGAGTGGGACC	0.627																																					p.A4661A		.											.	DNHD1-24	0			c.G13983T						.						36.0	46.0	43.0					11																	6592937		2097	4219	6316	SO:0001819	synonymous_variant	144132	exon43			ACATGCGGAGTGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13983G>T	11.37:g.6592937G>T		Somatic	92	0		WXS	Illumina HiSeq	Phase_I	74	4	NM_144666	0	0	9	9	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			.		0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
PACS1	55690	broad.mit.edu;bcgsc.ca	37	11	66008916	66008916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:66008916T>A	ENST00000320580.4	+	22	2481	c.2448T>A	c.(2446-2448)taT>taA	p.Y816*	PACS1_ENST00000529757.1_Nonsense_Mutation_p.Y352*|PACS1_ENST00000524815.1_5'UTR	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	816					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATAGCCCATATGGGGACGTGA	0.612																																					p.Y816X													.	PACS1-74	0			c.T2448A						.						35.0	29.0	31.0					11																	66008916		2200	4295	6495	SO:0001587	stop_gained	55690	exon22			CCCATATGGGGAC	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2448T>A	11.37:g.66008916T>A	ENSP00000316454:p.Tyr816*	Somatic	40	0		WXS	Illumina HiSeq	Phase_I	46	17	NM_018026	0	0	5	6	1	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Nonsense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	T	34	5.312003	0.95655	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	.	.	.	5.42	-2.15	0.07102	.	0.188559	0.46442	D	0.000283	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3124	11.7077	0.51607	0.0:0.6645:0.0:0.3355	.	.	.	.	X	816;352	.	ENSP00000316454:Y816X	Y	+	3	2	PACS1	65765492	0.032000	0.19561	0.784000	0.31847	0.413000	0.31143	-0.715000	0.04997	-0.559000	0.06110	-0.290000	0.09829	TAT	.		0.612	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
CLCF1	23529	broad.mit.edu;bcgsc.ca	37	11	67135057	67135057	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:67135057G>T	ENST00000312438.7	-	2	254	c.57C>A	c.(55-57)ctC>ctA	p.L19L	CLCF1_ENST00000528474.1_Silent_p.L9L|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.L9L	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	19					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			GGAGGTGCCAGAGCACCGTGC	0.662																																					p.L19L													.	CLCF1-90	0			c.C57A						.						96.0	77.0	83.0					11																	67135057		2200	4295	6495	SO:0001819	synonymous_variant	23529	exon2			GTGCCAGAGCACC	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.57C>A	11.37:g.67135057G>T		Somatic	41	1		WXS	Illumina HiSeq	Phase_I	46	15	NM_013246	0	0	5	20	15	B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	CCDS31617.1																																																																																			.		0.662	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246	
CD163L1	283316	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	7528456	7528456	+	Silent	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:7528456T>A	ENST00000313599.3	-	10	2583	c.2526A>T	c.(2524-2526)atA>atT	p.I842I	CD163L1_ENST00000396630.1_Silent_p.I842I|CD163L1_ENST00000416109.2_Silent_p.I852I|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	842	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGAAAGAGATATGGCATCTC	0.458																																					p.I842I													.	CD163L1-100	0			c.A2526T						.						112.0	106.0	108.0					12																	7528456		2203	4300	6503	SO:0001819	synonymous_variant	283316	exon10			AAGAGATATGGCA	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2526A>T	12.37:g.7528456T>A		Somatic	96	1		WXS	Illumina HiSeq	Phase_I	132	66	NM_174941	0	0	0	0	0	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																			.		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
TAS2R30	259293	bcgsc.ca	37	12	11285978	11285978	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:11285978A>G	ENST00000539585.1	-	1	1265	c.866T>C	c.(865-867)aTt>aCt	p.I289T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	289					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TGAAAGAAAAATCTGCTTTAG	0.428																																					p.I289T													.	.	0			c.T866C						.						147.0	148.0	148.0					12																	11285978		1983	4196	6179	SO:0001583	missense	259293	exon1			AGAAAAATCTGCT	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.866T>C	12.37:g.11285978A>G	ENSP00000444736:p.Ile289Thr	Somatic	218	3		WXS	Illumina HiSeq	Phase_1	315	25	NM_001097643	0	0	0	0	0	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.008	-1.869761	0.00542	.	.	ENSG00000256188	ENST00000539585	T	0.35048	1.33	2.8	-4.06	0.03986	.	.	.	.	.	T	0.07728	0.0194	N	0.00972	-1.085	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.28839	-1.0031	9	0.02654	T	1	.	2.665	0.05041	0.2603:0.0:0.3629:0.3768	.	289	P59541	T2R30_HUMAN	T	289	ENSP00000444736:I289T	ENSP00000444736:I289T	I	-	2	0	TAS2R30	11177245	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.224000	0.09164	-0.744000	0.04778	-1.351000	0.01236	ATT	.		0.428	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
ABCC9	10060	ucsc.edu;bcgsc.ca	37	12	22089587	22089587	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:22089587T>C	ENST00000261201.4	-	1	21	c.22A>G	c.(22-24)Aac>Gac	p.N8D	ABCC9_ENST00000326684.4_Missense_Mutation_p.N8D|ABCC9_ENST00000345162.2_Missense_Mutation_p.N8D|ABCC9_ENST00000538350.1_Missense_Mutation_p.N8D|ABCC9_ENST00000261200.4_Missense_Mutation_p.N8D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	8					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAAATGTTGTTACCACAAAAT	0.343																																					p.N8D													.	ABCC9-96	0			c.A22G						.						93.0	94.0	94.0					12																	22089587		2203	4300	6503	SO:0001583	missense	10060	exon1			TGTTGTTACCACA	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.22A>G	12.37:g.22089587T>C	ENSP00000261201:p.Asn8Asp	Somatic	220	2		WXS	Illumina HiSeq		309	76	NM_005691	0	0	0	0	0	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.110455	0.37242	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.96745	-2.96;-2.98;-2.97;-4.09;-4.11	5.32	1.71	0.24356	.	0.221661	0.52532	N	0.000061	D	0.91981	0.7460	L	0.47716	1.5	0.34815	D	0.738083	B;B;B;B	0.33549	0.002;0.001;0.0;0.417	B;B;B;B	0.28011	0.008;0.005;0.002;0.085	D	0.88614	0.3158	10	0.34782	T	0.22	-7.4686	9.0179	0.36182	0.0:0.2105:0.0:0.7895	.	8;8;8;8	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	D	8	ENSP00000261200:N8D;ENSP00000261201:N8D;ENSP00000261202:N8D;ENSP00000317518:N8D;ENSP00000442604:N8D	ENSP00000261200:N8D	N	-	1	0	ABCC9	21980854	0.990000	0.36364	0.632000	0.29296	0.919000	0.55068	2.126000	0.42026	0.139000	0.18822	0.523000	0.50628	AAC	.		0.343	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
DDX11	1663	bcgsc.ca	37	12	31237539	31237539	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:31237539A>G	ENST00000407793.2	+	4	667	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	DDX11_ENST00000350437.4_Missense_Mutation_p.Q139R|DDX11_ENST00000228264.6_Missense_Mutation_p.Q113R|DDX11_ENST00000545668.1_Missense_Mutation_p.Q139R|DDX11_ENST00000251758.5_Missense_Mutation_p.Q139R|DDX11_ENST00000542838.1_Missense_Mutation_p.Q139R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	139	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGAGGAAGCAGCGAGAAGAA	0.582										Multiple Myeloma(12;0.14)																											p.Q139R													.	DDX11-229	0			c.A416G						.						23.0	25.0	24.0					12																	31237539		2199	4289	6488	SO:0001583	missense	1663	exon4			GGAAGCAGCGAGA	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.416A>G	12.37:g.31237539A>G	ENSP00000384703:p.Gln139Arg	Somatic	321	8		WXS	Illumina HiSeq	Phase_1	436	201	NM_030653	0	0	4	4	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	A	6.614	0.481678	0.12581	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T	0.02606	4.23;4.23;4.23;4.23;4.23;4.23;4.23;4.23	4.06	1.62	0.23740	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.191160	0.44902	N	0.000406	T	0.01320	0.0043	N	0.04260	-0.245	0.24037	N	0.996095	B;B;B;B	0.16802	0.019;0.019;0.01;0.01	B;B;B;B	0.16289	0.01;0.01;0.015;0.015	T	0.48502	-0.9030	10	0.24483	T	0.36	.	5.3691	0.16131	0.7235:0.1777:0.0987:0.0	.	139;139;139;139	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	R	139;139;139;113;113;139;139;175	ENSP00000443426:Q139R;ENSP00000384703:Q139R;ENSP00000251758:Q139R;ENSP00000228264:Q113R;ENSP00000406457:Q113R;ENSP00000440402:Q139R;ENSP00000309965:Q139R;ENSP00000440171:Q175R	ENSP00000228264:Q113R	Q	+	2	0	DDX11	31128806	1.000000	0.71417	0.914000	0.36105	0.007000	0.05969	3.416000	0.52707	0.226000	0.20979	-0.710000	0.03640	CAG	.		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
KRT5	3852	broad.mit.edu	37	12	52913574	52913574	+	Silent	SNP	G	G	T	rs200658792		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:52913574G>T	ENST00000252242.4	-	1	897	c.507C>A	c.(505-507)cgC>cgA	p.R169R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	169	Coil 1A.|Rod.		R -> P (in DM-EBS; dbSNP:rs60720877). {ECO:0000269|PubMed:16786515}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATCTGCTCGCGCTCCTCGG	0.502																																					p.R169R													.	KRT5-90	0			c.C507A						.						183.0	175.0	178.0					12																	52913574		2203	4300	6503	SO:0001819	synonymous_variant	3852	exon1			CTGCTCGCGCTCC		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.507C>A	12.37:g.52913574G>T		Somatic	159	2		WXS	Illumina HiSeq	Phase_I	179	4	NM_000424	0	0	0	0	0	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																			G|0.999;A|0.000		0.502	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
METAP2	10988	broad.mit.edu	37	12	95867964	95867964	+	Silent	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:95867964T>G	ENST00000323666.5	+	1	238	c.9T>G	c.(7-9)ggT>ggG	p.G3G	METAP2_ENST00000261220.9_Silent_p.G3G|METAP2_ENST00000546753.1_Silent_p.G3G|METAP2_ENST00000551840.1_Silent_p.G3G|METAP2_ENST00000550777.1_Silent_p.G3G	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						ACATGGCGGGTGTGGAGGAGG	0.652																																					p.G3G													.	METAP2-90	0			c.T9G						.						34.0	42.0	39.0					12																	95867964		2203	4297	6500	SO:0001819	synonymous_variant	10988	exon1			GGCGGGTGTGGAG	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.9T>G	12.37:g.95867964T>G		Somatic	107	24		WXS	Illumina HiSeq	Phase_I	126	43	NM_006838	0	0	4	4	0		Silent	SNP	ENST00000323666.5	37	CCDS9052.1																																																																																			.		0.652	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	
VSIG10	54621	hgsc.bcm.edu	37	12	118506351	118506351	+	Silent	SNP	C	C	T	rs373328738		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:118506351C>T	ENST00000359236.5	-	8	1674	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	466	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						cctcctcctcctcttcctctt	0.458																																					p.E466E		.											.	.	0			c.G1398A						.						96.0	91.0	92.0					12																	118506351		2045	4191	6236	SO:0001819	synonymous_variant	54621	exon8			CTCCTCCTCTTCC		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1398G>A	12.37:g.118506351C>T		Somatic	100	0		WXS	Illumina HiSeq	Phase_I	132	8	NM_019086	0	0	1	1	0	Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																			.		0.458	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086	
PARP4	143	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	25021252	25021252	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr13:25021252G>C	ENST00000381989.3	-	26	3292	c.3187C>G	c.(3187-3189)Cca>Gca	p.P1063A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1063					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGCACATCTGGATTGAGTTGC	0.488																																					p.P1063A													.	PARP4-94	0			c.C3187G						.						66.0	61.0	63.0					13																	25021252		2203	4300	6503	SO:0001583	missense	143	exon26			CATCTGGATTGAG	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3187C>G	13.37:g.25021252G>C	ENSP00000371419:p.Pro1063Ala	Somatic	208	2		WXS	Illumina HiSeq	Phase_I	193	55	NM_006437	0	0	0	0	0	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.637295	0.00114	.	.	ENSG00000102699	ENST00000381989	T	0.02032	4.49	4.71	-9.42	0.00610	.	1.340860	0.04661	N	0.408863	T	0.01558	0.0050	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.46803	-0.9165	10	0.08179	T	0.78	1.0731	4.7321	0.12970	0.163:0.2649:0.4575:0.1146	.	1063	Q9UKK3	PARP4_HUMAN	A	1063	ENSP00000371419:P1063A	ENSP00000371419:P1063A	P	-	1	0	PARP4	23919252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.667000	0.01961	-2.376000	0.00598	-1.768000	0.00664	CCA	.		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
PRMT5	10419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	23397402	23397402	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:23397402A>G	ENST00000324366.8	-	3	471	c.248T>C	c.(247-249)gTg>gCg	p.V83A	PRMT5_ENST00000538452.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Intron|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V66A|PRMT5_ENST00000397441.2_Missense_Mutation_p.V66A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	83	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCTTTCCCACAATTAGCGT	0.433																																					p.V83A		.											.	PRMT5-91	0			c.T248C						.						92.0	82.0	85.0					14																	23397402		2203	4300	6503	SO:0001583	missense	10419	exon3			TTTCCCACAATTA	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.248T>C	14.37:g.23397402A>G	ENSP00000319169:p.Val83Ala	Somatic	59	0		WXS	Illumina HiSeq	Phase_I	85	33	NM_006109	0	0	2	8	6	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564340	0.86335	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000554910;ENST00000421938	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.84683	2.71	0.80722	D	1	D;D;D	0.71674	0.963;0.991;0.998	D;P;D	0.68765	0.959;0.73;0.96	D	0.83988	0.0336	9	0.87932	D	0	-13.1665	14.9141	0.70781	1.0:0.0:0.0:0.0	.	66;83;66	A8MTP3;O14744;A8MZ91	.;ANM5_HUMAN;.	A	83;66;66;83;83;45;41;93	.	ENSP00000319169:V83A	V	-	2	0	PRMT5	22467242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.199000	0.89731	2.176000	0.68965	0.455000	0.32223	GTG	.		0.433	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		
DIO2	1734	broad.mit.edu	37	14	80669247	80669247	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:80669247A>T	ENST00000557010.1	-	4	992	c.607T>A	c.(607-609)Tcc>Acc	p.S203T	DIO2_ENST00000438257.4_Missense_Mutation_p.S203T|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.S239T	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	203					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCGGCAAGGAGAAACGCTCC	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.													.	DIO2-22	0			.						.						71.0	75.0	74.0					14																	80669247		2047	4193	6240	SO:0001583	missense	1734	.			GCAAGGAGAAACG	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.607T>A	14.37:g.80669247A>T	ENSP00000451419:p.Ser203Thr	Somatic	62	0	1200	WXS	Illumina HiSeq	Phase_I	74	3	.	0	0	0	0	0	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132860	0.77662	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.31247	1.51;1.51;1.5	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	T	0.55321	0.1913	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.67103	0.915;0.949;0.945	T	0.57171	-0.7857	10	0.51188	T	0.08	.	16.0828	0.81017	1.0:0.0:0.0:0.0	.	239;203;239	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	T	203;203;239	ENSP00000405854:S203T;ENSP00000451419:S203T;ENSP00000450980:S239T	ENSP00000405854:S203T	S	-	1	0	DIO2	79739000	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.369000	0.79578	2.199000	0.70637	0.528000	0.53228	TCC	.		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2		
NRDE2	55051	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	90756895	90756895	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:90756895C>A	ENST00000354366.3	-	10	2131	c.1899G>T	c.(1897-1899)caG>caT	p.Q633H	NRDE2_ENST00000357904.3_Missense_Mutation_p.Q402H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	633																	CCAGCTGGAACTGAAGATCAT	0.458																																					p.Q633H													.	.	0			c.G1899T						.						79.0	81.0	81.0					14																	90756895		2203	4300	6503	SO:0001583	missense	55051	exon10			CTGGAACTGAAGA	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1899G>T	14.37:g.90756895C>A	ENSP00000346335:p.Gln633His	Somatic	118	1		WXS	Illumina HiSeq	Phase_I	108	44	NM_017970	0	0	0	1	1	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329880	0.24167	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.33438	1.41;1.41	5.9	4.91	0.64330	.	0.316430	0.34700	N	0.003759	T	0.32615	0.0835	M	0.71581	2.175	0.53688	D	0.999972	B	0.27823	0.19	B	0.31495	0.131	T	0.12760	-1.0535	10	0.40728	T	0.16	-15.6305	8.4865	0.33074	0.0:0.7126:0.1565:0.1309	.	633	Q9H7Z3	CN102_HUMAN	H	633;402	ENSP00000346335:Q633H;ENSP00000350579:Q402H	ENSP00000346335:Q633H	Q	-	3	2	C14orf102	89826648	0.863000	0.29885	0.933000	0.37362	0.148000	0.21650	0.219000	0.17641	2.788000	0.95919	0.650000	0.86243	CAG	.		0.458	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
GOLGA6L6	727832	broad.mit.edu	37	15	20739884	20739884	+	Silent	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:20739884C>T	ENST00000427390.2	-	8	1956	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	622	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						cctcctgctcctgtatcttct	0.547																																					p.Q622Q													.	.	0			c.G1866A						.						10.0	4.0	6.0					15																	20739884		602	1322	1924	SO:0001819	synonymous_variant	727832	exon8			CTGCTCCTGTATC	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1866G>A	15.37:g.20739884C>T		Somatic	9	0		WXS	Illumina HiSeq	Phase_I	14	3	NM_001145004	0	0	0	0	0	D3YTC0	Silent	SNP	ENST00000427390.2	37	CCDS45184.1																																																																																			.		0.547	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
BAHD1	22893	broad.mit.edu;bcgsc.ca	37	15	40751319	40751319	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:40751319G>A	ENST00000416165.1	+	2	727	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	BAHD1_ENST00000561234.1_Missense_Mutation_p.R219Q|BAHD1_ENST00000560846.1_Missense_Mutation_p.R219Q	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	219					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGCCAGGAGCGGGAGCTACCC	0.647																																					p.R219Q													.	BAHD1-90	0			c.G656A						.						27.0	32.0	30.0					15																	40751319		2203	4300	6503	SO:0001583	missense	22893	exon2			AGGAGCGGGAGCT	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.656G>A	15.37:g.40751319G>A	ENSP00000396976:p.Arg219Gln	Somatic	46	1		WXS	Illumina HiSeq	Phase_I	49	25	NM_014952	0	0	0	1	1	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078117	0.76528	.	.	ENSG00000140320	ENST00000416165	T	0.22743	1.94	5.0	5.0	0.66597	.	0.171717	0.38005	N	0.001842	T	0.16938	0.0407	N	0.14661	0.345	0.37906	D	0.931219	D;D;D	0.56746	0.977;0.961;0.977	P;B;P	0.49140	0.601;0.397;0.601	T	0.02109	-1.1212	10	0.59425	D	0.04	-19.1008	9.8207	0.40880	0.1236:0.0:0.8764:0.0	.	219;219;219	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Q	219	ENSP00000396976:R219Q	ENSP00000396976:R219Q	R	+	2	0	BAHD1	38538611	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.090000	0.50191	2.750000	0.94351	0.655000	0.94253	CGG	.		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
TP53BP1	7158	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43749148	43749148	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:43749148G>A	ENST00000263801.3	-	12	1895	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	TP53BP1_ENST00000382044.4_Missense_Mutation_p.T553M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.T553M|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.T553M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	548					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CATGGGTTCCGTATCCTCAAT	0.408								Other conserved DNA damage response genes																													p.T553M													.	TP53BP1-294	0			c.C1658T						.						146.0	130.0	135.0					15																	43749148		2201	4298	6499	SO:0001583	missense	7158	exon12			GGTTCCGTATCCT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1643C>T	15.37:g.43749148G>A	ENSP00000263801:p.Thr548Met	Somatic	76	1		WXS	Illumina HiSeq	Phase_I	74	26	NM_001141980	0	0	0	0	0	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865405	0.32977	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.04	3.17	0.36434	.	0.402681	0.25610	N	0.029482	T	0.35941	0.0949	L	0.59436	1.845	0.26495	N	0.97487	D;D;D;D	0.76494	0.995;0.999;0.999;0.999	P;P;D;D	0.67382	0.762;0.894;0.951;0.951	T	0.07986	-1.0744	10	0.48119	T	0.1	-2.4294	8.306	0.32042	0.2433:0.0:0.7567:0.0	.	553;548;553;553	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	M	548;553;553;553;553	ENSP00000263801:T548M;ENSP00000371475:T553M;ENSP00000371470:T553M;ENSP00000393497:T553M;ENSP00000388028:T553M	ENSP00000263801:T548M	T	-	2	0	TP53BP1	41536440	0.941000	0.31946	0.984000	0.44739	0.741000	0.42261	1.664000	0.37439	0.634000	0.30469	-0.244000	0.11960	ACG	.		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
VPS13C	54832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	62211580	62211580	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:62211580G>A	ENST00000261517.5	-	58	7619	c.7546C>T	c.(7546-7548)Cgg>Tgg	p.R2516W	VPS13C_ENST00000395896.4_Missense_Mutation_p.R2516W|VPS13C_ENST00000249837.3_Missense_Mutation_p.R2473W|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2473W	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGGGATTCCGTACATTATAC	0.423																																					p.R2516W													.	VPS13C-92	0			c.C7546T						.						147.0	144.0	145.0					15																	62211580		2203	4299	6502	SO:0001583	missense	54832	exon58			GATTCCGTACATT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7546C>T	15.37:g.62211580G>A	ENSP00000261517:p.Arg2516Trp	Somatic	118	2		WXS	Illumina HiSeq	Phase_I	107	35	NM_020821	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369251	0.24771	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.50548	0.74;0.74;0.91	5.35	2.37	0.29283	.	0.191981	0.43579	N	0.000554	T	0.36441	0.0967	L	0.54323	1.7	0.34837	D	0.740249	B;B;B;B	0.29909	0.136;0.261;0.261;0.17	B;B;B;B	0.23419	0.031;0.031;0.046;0.014	T	0.40040	-0.9584	10	0.56958	D	0.05	.	5.3262	0.15908	0.1657:0.0:0.4056:0.4287	.	2473;2516;2473;2516	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	W	2473;2516;2516;2516	ENSP00000249837:R2473W;ENSP00000261517:R2516W;ENSP00000379233:R2516W	ENSP00000249837:R2473W	R	-	1	2	VPS13C	59998872	0.752000	0.28338	0.148000	0.22405	0.563000	0.35712	1.599000	0.36751	0.290000	0.22444	-0.181000	0.13052	CGG	.		0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62219326	62219326	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:62219326A>G	ENST00000261517.5	-	52	6553	c.6480T>C	c.(6478-6480)ccT>ccC	p.P2160P	VPS13C_ENST00000395896.4_Silent_p.P2160P|VPS13C_ENST00000249837.3_Silent_p.P2117P|VPS13C_ENST00000395898.3_Silent_p.P2117P	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCTGAGAAAAGGGCAAGCGA	0.423																																					p.P2160P													.	VPS13C-92	0			c.T6480C						.						120.0	118.0	119.0					15																	62219326		2203	4300	6503	SO:0001819	synonymous_variant	54832	exon52			GAGAAAAGGGCAA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6480T>C	15.37:g.62219326A>G		Somatic	117	0		WXS	Illumina HiSeq	Phase_I	120	4	NM_020821	0	0	0	0	0		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																			.		0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
PARP6	56965	broad.mit.edu	37	15	72552951	72552951	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:72552951G>T	ENST00000569795.1	-	10	1311	c.624C>A	c.(622-624)ctC>ctA	p.L208L	PARP6_ENST00000287196.9_Silent_p.L208L|PARP6_ENST00000260376.7_Silent_p.L208L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	208							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						AACGGTTCATGAGGCGCCCAA	0.557																																					p.L208L													.	PARP6-522	0			c.C624A						.						376.0	370.0	372.0					15																	72552951		1920	4129	6049	SO:0001819	synonymous_variant	56965	exon9			GTTCATGAGGCGC	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.624C>A	15.37:g.72552951G>T		Somatic	86	0		WXS	Illumina HiSeq	Phase_I	66	4	NM_020214	0	0	9	9	0	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	CCDS10241.2																																																																																			.		0.557	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	
NPTN	27020	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	73884465	73884465	+	Silent	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr15:73884465G>A	ENST00000345330.4	-	3	650	c.453C>T	c.(451-453)gtC>gtT	p.V151V	NPTN_ENST00000287226.8_Silent_p.V151V|NPTN_ENST00000562924.1_Silent_p.V35V|NPTN_ENST00000351217.6_Silent_p.V35V|NPTN_ENST00000563691.1_Silent_p.V151V|NPTN_ENST00000545878.1_Silent_p.V151V|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000542234.1_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	151	Ig-like 2.|Narpin; mediates binding with FGFR1 and has antidepressant-like activity. {ECO:0000250}.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTCACTGGTGACAATCCTTG	0.532																																					p.V151V	Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												.	NPTN-90	0			c.C453T						.						156.0	117.0	130.0					15																	73884465		2198	4297	6495	SO:0001819	synonymous_variant	27020	exon3			ACTGGTGACAATC	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.453C>T	15.37:g.73884465G>A		Somatic	61	1		WXS	Illumina HiSeq	Phase_I	59	21	NM_001161363	0	0	0	0	0	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	ENST00000345330.4	37	CCDS10249.1																																																																																			.		0.532	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428	
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																					p.V246G													.	PRSS27-91	0			c.T737G						.						27.0	24.0	25.0					16																	2762757		2178	4284	6462	SO:0001583	missense	83886	exon6			CTGATCACCCCCG	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly	Somatic	69	24		WXS	Illumina HiSeq	Phase_I	97	30	NM_031948	0	0	4	4	0		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG	.		0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948	
ELMO3	79767	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67236173	67236173	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:67236173G>C	ENST00000360833.1	+	12	1412	c.1355G>C	c.(1354-1356)cGt>cCt	p.R452P	ELMO3_ENST00000477898.1_Missense_Mutation_p.R303P|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.R469P			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	416	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GAGCTGCTCCGTGTTGGGGAG	0.642																																					p.R469P													.	ELMO3-90	0			c.G1406C						.						72.0	80.0	77.0					16																	67236173		2198	4300	6498	SO:0001583	missense	79767	exon13			TGCTCCGTGTTGG		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1355G>C	16.37:g.67236173G>C	ENSP00000354077:p.Arg452Pro	Somatic	90	1		WXS	Illumina HiSeq	Phase_I	105	54	NM_024712	0	0	10	57	47	B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37		.	.	.	.	.	.	.	.	.	.	G	11.93	1.785844	0.31593	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.33438	1.41;1.41	5.62	-8.47	0.00939	Engulfment/cell motility, ELMO (2);	0.430306	0.28977	N	0.013534	T	0.38612	0.1047	M	0.66939	2.045	0.48185	D	0.999606	P;P;P	0.47604	0.752;0.898;0.898	P;P;P	0.52598	0.703;0.697;0.697	T	0.62909	-0.6754	10	0.87932	D	0	0.0214	17.3874	0.87420	0.3634:0.0:0.6366:0.0	.	416;452;469	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	P	452;469	ENSP00000354077:R452P;ENSP00000377566:R469P	ENSP00000354077:R452P	R	+	2	0	ELMO3	65793674	0.006000	0.16342	0.002000	0.10522	0.156000	0.22039	0.112000	0.15479	-1.379000	0.02118	-1.029000	0.02412	CGT	.		0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712	
PRMT7	54496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	68386313	68386313	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:68386313G>A	ENST00000339507.5	+	15	2405		c.e15+1		PRMT7_ENST00000441236.1_Splice_Site|PRMT7_ENST00000348497.4_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGAGTTCAGGGTAGGCCACCC	0.622																																					.		.											.	PRMT7-90	0			c.1425+1G>A						.						40.0	38.0	39.0					16																	68386313		2198	4300	6498	SO:0001630	splice_region_variant	54496	exon13			TTCAGGGTAGGCC	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1575+1G>A	16.37:g.68386313G>A		Somatic	12	0		WXS	Illumina HiSeq	Phase_I	22	9	NM_001184824	0	0	0	1	1	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Splice_Site	SNP	ENST00000339507.5	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947713	0.73787	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9994	0.80280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT7	66943814	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.352000	0.97076	2.392000	0.81423	0.655000	0.94253	.	.		0.622	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023	Intron
DHX38	9785	bcgsc.ca	37	16	72132887	72132887	+	Missense_Mutation	SNP	G	G	A	rs557237564		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:72132887G>A	ENST00000268482.3	+	6	1335	c.826G>A	c.(826-828)Gag>Aag	p.E276K	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	276					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CAAATATAACGAGTGGGCCGA	0.592																																					p.E276K	Melanoma(97;711 1442 7855 13832 28836)												.	DHX38-227	0			c.G826A						.						57.0	56.0	56.0					16																	72132887		2198	4300	6498	SO:0001583	missense	9785	exon6			TATAACGAGTGGG	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.826G>A	16.37:g.72132887G>A	ENSP00000268482:p.Glu276Lys	Somatic	77	2		WXS	Illumina HiSeq	Phase_1	116	56	NM_014003	0	0	0	1	1	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080529	0.36662	.	.	ENSG00000140829	ENST00000268482	T	0.02916	4.11	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	L	0.27053	0.805	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.50101	-0.8867	10	0.09843	T	0.71	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	276	Q92620	PRP16_HUMAN	K	276	ENSP00000268482:E276K	ENSP00000268482:E276K	E	+	1	0	DHX38	70690388	1.000000	0.71417	0.390000	0.26220	0.533000	0.34776	9.262000	0.95591	2.419000	0.82065	0.563000	0.77884	GAG	.		0.592	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
MYH4	4622	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10369879	10369879	+	Missense_Mutation	SNP	C	C	T	rs148833814		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:10369879C>T	ENST00000255381.2	-	3	294	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	62					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCGGTCTTGGCTGTCACCTTC	0.463																																					p.A62T													.	MYH4-102	0			c.G184A						.	C	THR/ALA	0,4406		0,0,2203	201.0	188.0	192.0		184	4.5	0.3	17	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH4	NM_017533.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	62/1940	10369879	1,13005	2203	4300	6503	SO:0001583	missense	4622	exon3			TCTTGGCTGTCAC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.184G>A	17.37:g.10369879C>T	ENSP00000255381:p.Ala62Thr	Somatic	108	1		WXS	Illumina HiSeq	Phase_I	119	56	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324097	0.60634	0.0	1.16E-4	ENSG00000141048	ENST00000255381	T	0.80304	-1.36	4.53	4.53	0.55603	Myosin, N-terminal, SH3-like (1);	0.261790	0.19148	U	0.121502	T	0.76069	0.3936	L	0.41492	1.28	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.73544	-0.3949	10	0.66056	D	0.02	.	17.8023	0.88591	0.0:1.0:0.0:0.0	.	62	Q9Y623	MYH4_HUMAN	T	62	ENSP00000255381:A62T	ENSP00000255381:A62T	A	-	1	0	MYH4	10310604	0.240000	0.23847	0.284000	0.24805	0.914000	0.54420	4.544000	0.60691	2.498000	0.84270	0.650000	0.86243	GCC	C|1.000;T|0.000		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
BLMH	642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	28614937	28614937	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:28614937G>A	ENST00000261714.6	-	4	524	c.350C>T	c.(349-351)gCt>gTt	p.A117V	BLMH_ENST00000582669.1_5'Flank|RNU6-1267P_ENST00000410747.1_RNA|BLMH_ENST00000394819.3_Missense_Mutation_p.A30V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	117					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTCCACAAAAGCACTCAAGAA	0.388																																					p.A117V	Pancreas(127;628 1772 12912 33293 36203)	.											.	BLMH-91	0			c.C350T						.						88.0	85.0	86.0					17																	28614937		2203	4300	6503	SO:0001583	missense	642	exon4			ACAAAAGCACTCA	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.350C>T	17.37:g.28614937G>A	ENSP00000261714:p.Ala117Val	Somatic	75	0		WXS	Illumina HiSeq	Phase_I	76	17	NM_000386	0	0	8	13	5	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769945	0.69992	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.44881	0.91;0.91	5.95	5.95	0.96441	.	0.197192	0.52532	D	0.000067	T	0.45637	0.1352	M	0.63208	1.945	0.51233	D	0.999918	B;B	0.23540	0.087;0.036	B;B	0.25759	0.063;0.039	T	0.31530	-0.9940	10	0.49607	T	0.09	-8.7167	17.5491	0.87871	0.0:0.0:1.0:0.0	.	30;117	E7EMN3;Q13867	.;BLMH_HUMAN	V	117;30	ENSP00000261714:A117V;ENSP00000378296:A30V	ENSP00000261714:A117V	A	-	2	0	BLMH	25639063	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.945000	0.63568	2.824000	0.97209	0.655000	0.94253	GCT	.		0.388	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
CACNB1	782	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37343149	37343149	+	Missense_Mutation	SNP	C	C	G	rs201083692	byFrequency	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:37343149C>G	ENST00000394303.3	-	5	655	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	CACNB1_ENST00000394310.3_Missense_Mutation_p.V150L|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.V150L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	150	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCCTTCACCAGCCGCCCG	0.572																																					p.V150L	Esophageal Squamous(5;100 366 38393 41452 45827)												.	CACNB1-154	0			c.G448C						.						62.0	58.0	59.0					17																	37343149		2203	4300	6503	SO:0001583	missense	782	exon5			CCTTCACCAGCCG		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.448G>C	17.37:g.37343149C>G	ENSP00000377840:p.Val150Leu	Somatic	108	3		WXS	Illumina HiSeq	Phase_I	115	54	NM_199248	0	0	0	0	0	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061866	0.93846	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83335	-1.71;-1.71;-1.71	5.06	5.06	0.68205	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.86420	2.815	0.80722	D	1	P;D;D;P;D	0.64830	0.902;0.984;0.988;0.902;0.994	D;D;D;P;D	0.78314	0.927;0.926;0.991;0.893;0.97	D	0.93547	0.6883	10	0.87932	D	0	-16.2167	17.1868	0.86868	0.0:1.0:0.0:0.0	.	103;150;150;150;150	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	L	100;150;150;150;103	ENSP00000377840:V150L;ENSP00000345461:V150L;ENSP00000377847:V150L	ENSP00000345461:V150L	V	-	1	0	CACNB1	34596675	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.711000	0.84669	2.362000	0.80069	0.313000	0.20887	GTG	C|0.999;T|0.001		0.572	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		
SLC25A39	51629	broad.mit.edu;bcgsc.ca	37	17	42399919	42399919	+	Splice_Site	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:42399919C>T	ENST00000377095.5	-	5	311	c.192G>A	c.(190-192)ttG>ttA	p.L64L	SLC25A39_ENST00000225308.8_Intron|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Intron|SLC25A39_ENST00000537904.2_Intron	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	64					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGAGGAGGGCACTGGGGAAA	0.587																																					p.L64L													.	SLC25A39-91	0			c.G192A						.						64.0	54.0	58.0					17																	42399919		2203	4300	6503	SO:0001630	splice_region_variant	51629	exon5			GGAGGGCACTGGG	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.191-1G>A	17.37:g.42399919C>T		Somatic	92	2		WXS	Illumina HiSeq	Phase_I	116	64	NM_001143780	0	0	1	1	0	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	CCDS45700.1																																																																																			.		0.587	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016	Silent
NACA2	342538	ucsc.edu	37	17	59668318	59668318	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:59668318C>T	ENST00000521764.1	-	1	245	c.224G>A	c.(223-225)aGg>aAg	p.R75K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	75	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTTCCGTGCCCTCTTTTCACT	0.458																																					p.R75K													.	NACA2-91	0			c.G224A						.						246.0	229.0	234.0					17																	59668318		2203	4300	6503	SO:0001583	missense	342538	exon1			CGTGCCCTCTTTT	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.224G>A	17.37:g.59668318C>T	ENSP00000427802:p.Arg75Lys	Somatic	121	0		WXS	Illumina HiSeq		189	1	NM_199290	0	0	0	1015	1015	Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976583	0.34848	.	.	ENSG00000253506	ENST00000521764	T	0.17528	2.27	0.753	-0.748	0.11087	Nascent polypeptide-associated complex NAC (2);	0.072360	0.50627	N	0.000118	T	0.01489	0.0048	N	0.00010	-3.04	0.23577	N	0.997375	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	9	.	.	.	.	4.0866	0.09950	0.0:0.257:0.0:0.743	.	75	Q9H009	NACA2_HUMAN	K	75	ENSP00000427802:R75K	.	R	-	2	0	NACA2	57023100	1.000000	0.71417	0.973000	0.42090	0.773000	0.43773	3.300000	0.51834	-0.188000	0.10499	-0.624000	0.04008	AGG	.		0.458	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290	
AFG3L2	10939	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	12367020	12367020	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr18:12367020A>G	ENST00000269143.3	-	5	727	c.496T>C	c.(496-498)Tcc>Ccc	p.S166P		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	166					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCTCTCCCGGATCTCTTGAGC	0.448																																					p.S166P													.	AFG3L2-90	0			c.T496C						.						114.0	108.0	110.0					18																	12367020		2203	4300	6503	SO:0001583	missense	10939	exon5			TCCCGGATCTCTT	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.496T>C	18.37:g.12367020A>G	ENSP00000269143:p.Ser166Pro	Somatic	121	1		WXS	Illumina HiSeq	Phase_I	123	42	NM_006796	0	0	16	28	12	Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248845	0.39797	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.78364	-1.17	5.72	5.72	0.89469	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.163104	0.56097	D	0.000030	T	0.58337	0.2115	N	0.05441	-0.05	0.46167	D	0.998904	B	0.06786	0.001	B	0.12837	0.008	T	0.55522	-0.8128	10	0.29301	T	0.29	-0.123	10.65	0.45642	0.9197:0.0:0.0803:0.0	.	166	Q9Y4W6	AFG32_HUMAN	P	166;181	ENSP00000269143:S166P	ENSP00000269143:S166P	S	-	1	0	AFG3L2	12357020	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.808000	0.47963	2.182000	0.69389	0.533000	0.62120	TCC	.		0.448	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9088827	9088827	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:9088827T>C	ENST00000397910.4	-	1	3191	c.2988A>G	c.(2986-2988)gtA>gtG	p.V996V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	996	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						TAGAGACCATTACAGTAGCAG	0.468																																					p.V996V													.	MUC16-566	0			c.A2988G						.						257.0	242.0	247.0					19																	9088827		1979	4156	6135	SO:0001819	synonymous_variant	94025	exon1			GACCATTACAGTA	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.2988A>G	19.37:g.9088827T>C		Somatic	117	1		WXS	Illumina HiSeq	Phase_I	96	35	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NKPD1	284353	broad.mit.edu	37	19	45655438	45655438	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:45655438G>T	ENST00000438936.2	-	3	1802	c.1591C>A	c.(1591-1593)Cgc>Agc	p.R531S	NKPD1_ENST00000589776.1_Missense_Mutation_p.R531S|NKPD1_ENST00000317951.4_Missense_Mutation_p.R753S|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Intron			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	531						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGACCCATGCGCCGGCGGATG	0.716																																					p.R753S													.	NKPD1-68	0			c.C2257A						.						6.0	9.0	8.0					19																	45655438		1926	4080	6006	SO:0001583	missense	284353	exon4			CCATGCGCCGGCG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1591C>A	19.37:g.45655438G>T	ENSP00000401739:p.Arg531Ser	Somatic	57	2		WXS	Illumina HiSeq	Phase_I	40	4	NM_198478	0	0	0	0	0	B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37		.	.	.	.	.	.	.	.	.	.	G	16.14	3.037590	0.54896	.	.	ENSG00000179846	ENST00000317951;ENST00000438936	T;T	0.44083	0.93;0.95	5.43	4.39	0.52855	.	.	.	.	.	T	0.39784	0.1091	L	0.46157	1.445	0.80722	D	1	P	0.52842	0.956	P	0.51866	0.682	T	0.33007	-0.9885	9	0.07644	T	0.81	-10.5324	8.5125	0.33226	0.1757:0.0:0.8243:0.0	.	531	Q17RQ9	NKPD1_HUMAN	S	753;531	ENSP00000321976:R753S;ENSP00000401739:R531S	ENSP00000321976:R753S	R	-	1	0	NKPD1	50347278	0.989000	0.36119	1.000000	0.80357	0.986000	0.74619	1.381000	0.34362	1.292000	0.44672	0.561000	0.74099	CGC	.		0.716	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478	
ZNF677	342926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	53740610	53740610	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:53740610T>C	ENST00000598513.1	-	5	1520	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R	ZNF677_ENST00000333952.4_Missense_Mutation_p.K457R	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTGTAAGGTTTTTCTCCAGT	0.378																																					p.K457R		.											.	ZNF677-91	0			c.A1370G						.						54.0	52.0	53.0					19																	53740610		2203	4300	6503	SO:0001583	missense	342926	exon5			TAAGGTTTTTCTC	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1370A>G	19.37:g.53740610T>C	ENSP00000469391:p.Lys457Arg	Somatic	65	0		WXS	Illumina HiSeq	Phase_I	80	23	NM_182609	0	0	0	0	0		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.227295	0.58668	.	.	ENSG00000197928	ENST00000333952	T	0.24908	1.83	2.21	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002104	T	0.26085	0.0636	N	0.13272	0.32	0.25071	N	0.990998	D	0.67145	0.996	D	0.69142	0.962	T	0.05194	-1.0900	10	0.72032	D	0.01	.	6.5871	0.22626	0.0:0.0:0.2456:0.7543	.	457	Q86XU0	ZN677_HUMAN	R	457	ENSP00000334394:K457R	ENSP00000334394:K457R	K	-	2	0	ZNF677	58432422	0.880000	0.30214	0.998000	0.56505	0.997000	0.91878	0.417000	0.21214	0.277000	0.22141	0.533000	0.62120	AAA	.		0.378	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
LILRA5	353514	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54822787	54822787	+	Silent	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:54822787A>C	ENST00000301219.3	-	5	728	c.609T>G	c.(607-609)ccT>ccG	p.P203P	LILRA5_ENST00000432233.3_Silent_p.P203P|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Silent_p.P191P|LILRA5_ENST00000446712.3_Silent_p.P191P	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	203	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGTCACAGGGCCCACAG	0.592																																					p.P203P													.	LILRA5-91	0			c.T609G						.						54.0	56.0	55.0					19																	54822787		2203	4300	6503	SO:0001819	synonymous_variant	353514	exon5			GGTCACAGGGCCC	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.609T>G	19.37:g.54822787A>C		Somatic	99	1		WXS	Illumina HiSeq	Phase_I	102	36	NM_181879	0	0	2	2	0	A6NHI3	Silent	SNP	ENST00000301219.3	37	CCDS12888.1																																																																																			.		0.592	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		.											.	.	0			c.C968A						.						15.0	12.0	13.0					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	87	0		WXS	Illumina HiSeq	Phase_I	115	8	NM_001144989	0	0	1	1	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		.											.	.	0			c.G965A						.						15.0	12.0	13.0					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	81	0		WXS	Illumina HiSeq	Phase_I	107	8	NM_001144989	0	0	1	1	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	bcgsc.ca	37	19	58385873	58385873	+	Silent	SNP	T	T	C	rs397978905	byFrequency	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385873T>C	ENST00000435989.2	-	3	1119	c.885A>G	c.(883-885)aaA>aaG	p.K295K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	295					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACATTCATGTTTTTTTTCAG	0.358																																					p.K295K													.	.	0			c.A885G						.						17.0	13.0	14.0					19																	58385873		687	1561	2248	SO:0001819	synonymous_variant	730051	exon3			TTCATGTTTTTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.885A>G	19.37:g.58385873T>C		Somatic	47	3		WXS	Illumina HiSeq	Phase_1	33	8	NM_001144989	0	0	0	0	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
SLC30A3	7781	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27480036	27480036	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:27480036G>C	ENST00000233535.4	-	5	1115	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L250V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	255					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGATGAGGATGGAGGCA	0.612																																					p.L255V													.	SLC30A3-90	0			c.C763G						.						79.0	76.0	77.0					2																	27480036		2203	4300	6503	SO:0001583	missense	7781	exon5			AGATGAGGATGGA	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.763C>G	2.37:g.27480036G>C	ENSP00000233535:p.Leu255Val	Somatic	147	2		WXS	Illumina HiSeq	Phase_I	171	43	NM_003459	0	0	0	0	0	Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353230	0.24512	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.66460	-0.21;-0.21;-0.21	4.88	4.88	0.63580	.	0.122293	0.53938	D	0.000044	T	0.40595	0.1123	N	0.01668	-0.77	0.37697	D	0.924059	B;B	0.15930	0.012;0.015	B;B	0.31101	0.076;0.124	T	0.44360	-0.9333	10	0.22706	T	0.39	-24.7171	11.753	0.51859	0.0:0.1782:0.8218:0.0	.	250;255	F5H3B7;Q99726	.;ZNT3_HUMAN	V	255;250;192;206	ENSP00000233535:L255V;ENSP00000415226:L250V;ENSP00000414320:L206V	ENSP00000233535:L255V	L	-	1	0	SLC30A3	27333540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.584000	0.46102	2.429000	0.82318	0.555000	0.69702	CTC	.		0.612	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		
FBXO11	80204	broad.mit.edu;bcgsc.ca	37	2	48132850	48132850	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:48132850C>G	ENST00000403359.3	-	1	82	c.10G>C	c.(10-12)Gtc>Ctc	p.V4L	AC079807.2_ENST00000439870.1_RNA|FBXO11_ENST00000378314.3_5'Flank|FBXO11_ENST00000316377.4_5'Flank|AC079807.2_ENST00000432064.1_RNA|AC079807.2_ENST00000417692.1_RNA	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	4					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCGGCTCGGACGGAGTTCATT	0.721			"""Mis, F, D"""		DLBCL																																p.V4L				Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	FBXO11-659	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	c.G10C						.						3.0	3.0	3.0					2																	48132850		748	1783	2531	SO:0001583	missense	80204	exon1			CTCGGACGGAGTT	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.10G>C	2.37:g.48132850C>G	ENSP00000384823:p.Val4Leu	Somatic	57	1		WXS	Illumina HiSeq	Phase_I	60	17	NM_001190274	0	0	0	0	0	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109165	0.56398	.	.	ENSG00000138081	ENST00000403359	T	0.55234	0.53	2.44	2.44	0.29823	.	.	.	.	.	T	0.37945	0.1022	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.43702	-0.9375	7	0.87932	D	0	-16.2404	10.0511	0.42216	0.0:1.0:0.0:0.0	.	.	.	.	L	4	ENSP00000384823:V4L	ENSP00000384823:V4L	V	-	1	0	FBXO11	47986354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.264000	0.58859	1.345000	0.45676	0.491000	0.48974	GTC	.		0.721	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133	
CSRNP3	80034	broad.mit.edu	37	2	166535409	166535409	+	Missense_Mutation	SNP	A	A	G	rs144629858		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:166535409A>G	ENST00000342316.4	+	5	1176	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	CSRNP3_ENST00000314499.7_Missense_Mutation_p.M302V|CSRNP3_ENST00000409420.1_Missense_Mutation_p.M334V	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	302					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAGTAGTTCTATGGGCCCTGT	0.493																																					p.M302V													.	CSRNP3-157	0			c.A904G						.	A	VAL/MET,VAL/MET	0,4406		0,0,2203	69.0	68.0	69.0		904,904	5.8	1.0	2	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CSRNP3	NM_001172173.1,NM_024969.3	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	302/586,302/586	166535409	1,13005	2203	4300	6503	SO:0001583	missense	80034	exon7			AGTTCTATGGGCC	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.904A>G	2.37:g.166535409A>G	ENSP00000344042:p.Met302Val	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	172	5	NM_001172173	0	0	0	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	A	9.199	1.028096	0.19512	0.0	1.16E-4	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.77	5.77	0.91146	.	0.255061	0.46758	D	0.000261	T	0.28234	0.0697	L	0.27053	0.805	0.39036	D	0.960042	B	0.17268	0.021	B	0.16722	0.016	T	0.16217	-1.0410	10	0.12103	T	0.63	-17.1574	11.3019	0.49311	0.8478:0.1521:0.0:0.0	.	302	Q8WYN3	CSRN3_HUMAN	V	302;309;302;302;334	ENSP00000412081:M302V;ENSP00000318258:M302V;ENSP00000344042:M302V;ENSP00000387195:M334V	ENSP00000318258:M302V	M	+	1	0	CSRNP3	166243655	0.974000	0.33945	1.000000	0.80357	0.997000	0.91878	1.752000	0.38349	2.195000	0.70347	0.528000	0.53228	ATG	A|1.000;G|0.000		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
AGPS	8540	broad.mit.edu	37	2	178257705	178257705	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:178257705C>T	ENST00000264167.4	+	1	334	c.188C>T	c.(187-189)gCc>gTc	p.A63V	NFE2L2_ENST00000464747.1_5'Flank|AGPS_ENST00000409888.1_Missense_Mutation_p.A63V|AC074286.1_ENST00000397057.2_RNA	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	63					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GCGCGGAGAGCCGCGTCGGCG	0.701																																					p.A63V													.	AGPS-92	0			c.C188T						.						2.0	3.0	3.0					2																	178257705		1427	2821	4248	SO:0001583	missense	8540	exon1			GGAGAGCCGCGTC	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.188C>T	2.37:g.178257705C>T	ENSP00000264167:p.Ala63Val	Somatic	106	0		WXS	Illumina HiSeq	Phase_I	136	4	NM_003659	0	0	0	0	0	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273488	0.80580	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D	0.97850	-4.57	4.57	4.57	0.56435	.	0.581401	0.16956	N	0.192694	D	0.97179	0.9078	L	0.29908	0.895	0.30660	N	0.75453	D	0.63880	0.993	D	0.65443	0.935	D	0.94907	0.8061	10	0.36615	T	0.2	.	14.3917	0.66983	0.0:1.0:0.0:0.0	.	63	O00116	ADAS_HUMAN	V	63	ENSP00000264167:A63V	ENSP00000264167:A63V	A	+	2	0	AGPS	177965951	0.832000	0.29368	0.997000	0.53966	0.997000	0.91878	2.006000	0.40874	2.358000	0.79984	0.655000	0.94253	GCC	.		0.701	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179424419	179424419	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:179424419T>A	ENST00000591111.1	-	276	81741	c.81517A>T	c.(81517-81519)Aat>Tat	p.N27173Y	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N19941Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N28814Y|TTN_ENST00000342992.6_Missense_Mutation_p.N26246Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N19874Y|TTN_ENST00000460472.2_Missense_Mutation_p.N19749Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27173	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTGGCATTTTCAATGGTC	0.423																																					p.N28814Y		.											.	TTN-636	0			c.A86440T						.						167.0	157.0	160.0					2																	179424419		2006	4191	6197	SO:0001583	missense	7273	exon326			TGGCATTTTCAAT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81517A>T	2.37:g.179424419T>A	ENSP00000465570:p.Asn27173Tyr	Somatic	104	0		WXS	Illumina HiSeq	Phase_I	163	44	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.56	1.673934	0.29693	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51941	0.1704	M	0.70595	2.14	0.39978	D	0.974889	P;P;P;P	0.49253	0.921;0.921;0.921;0.921	B;B;B;B	0.42163	0.378;0.378;0.378;0.378	T	0.62742	-0.6790	9	0.87932	D	0	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	19749;19874;19941;27173	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26246;19749;19941;19874;19746	ENSP00000343764:N26246Y;ENSP00000434586:N19749Y;ENSP00000340554:N19941Y;ENSP00000352154:N19874Y	ENSP00000340554:N19941Y	N	-	1	0	TTN	179132665	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.039000	0.57325	2.326000	0.78906	0.533000	0.62120	AAT	.		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FAM182A	284800	broad.mit.edu	37	20	26061818	26061818	+	RNA	SNP	G	G	C	rs112101451		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:26061818G>C	ENST00000376398.2	+	0	838					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						GATTTCTCCTGCTTAGAAATG	0.463																																					.													.	.	0			.						.						12.0	11.0	11.0					20																	26061818		692	1579	2271			284800	.			TCTCCTGCTTAGA	AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061818G>C		Somatic	116	1		WXS	Illumina HiSeq	Phase_I	149	4	.	0	0	0	0	0	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37		.	.	.	.	.	.	.	.	.	.	N	7.694	0.691703	0.15039	.	.	ENSG00000125804	ENST00000376398;ENST00000246000	.	.	.	0.368	0.368	0.16146	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.30118	N	0.805912	.	.	.	.	.	.	T	0.53092	-0.8487	4	0.87932	D	0	.	.	.	.	.	.	.	.	S	57	.	ENSP00000246000:C57S	C	+	2	0	FAM182A	26009818	1.000000	0.71417	0.427000	0.26684	0.468000	0.32798	0.774000	0.26675	0.451000	0.26802	0.123000	0.15791	TGC	G|0.994;C|0.006		0.463	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2		
AHCY	191	broad.mit.edu	37	20	32873357	32873357	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:32873357G>T	ENST00000217426.2	-	9	1133	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	AHCY_ENST00000538132.1_Silent_p.G324G|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	352					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTGGGGTGGCCCATGGCAC	0.607																																					p.G352G													.	AHCY-91	0			c.C1056A						.						81.0	69.0	73.0					20																	32873357		2203	4300	6503	SO:0001819	synonymous_variant	191	exon9			GGGGTGGCCCATG	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1056C>A	20.37:g.32873357G>T		Somatic	89	2		WXS	Illumina HiSeq	Phase_I	85	7	NM_000687	0	0	105	117	12	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	CCDS13233.1																																																																																			.		0.607	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687	
MROH8	140699	broad.mit.edu;bcgsc.ca	37	20	35772168	35772168	+	Silent	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr20:35772168G>A	ENST00000400441.3	-	11	1286	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	MROH8_ENST00000217333.8_Silent_p.H309H|MROH8_ENST00000441008.2_Silent_p.H415H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	314																	CGGCAGAGCTGTGGAGCTCCA	0.383																																					.													.	.	0			.						.						64.0	59.0	61.0					20																	35772168		1841	4088	5929	SO:0001819	synonymous_variant	140699	.			AGAGCTGTGGAGC	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1287C>T	20.37:g.35772168G>A		Somatic	151	0		WXS	Illumina HiSeq	Phase_I	173	8	.	0	0	2	2	0	Q5JYQ6	Silent	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.008|0.008	-1.910082|-1.910082	0.00508|0.00508	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000343811;ENST00000400440	.|.	.|.	.|.	5.19|5.19	-0.111|-0.111	0.13576|0.13576	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31575	.|0.0801	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.29305	.|-1.0016	.|4	.|.	.|.	.|.	-0.5771|-0.5771	7.5762|7.5762	0.27937|0.27937	0.4617:0.0:0.5383:0.0|0.4617:0.0:0.5383:0.0	.|.	.|.	.|.	.|.	X|I	108;431|456;460	.|.	.|.	Q|T	-|-	1|2	0|0	C20orf132|C20orf132	35205582|35205582	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.368000|0.368000	0.20399|0.20399	-0.051000|-0.051000	0.13334|0.13334	-0.768000|-0.768000	0.03414|0.03414	CAG|ACA	.		0.383	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
TRAPPC10	7109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	45502876	45502876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr21:45502876G>A	ENST00000291574.4	+	14	2106	c.1931G>A	c.(1930-1932)tGg>tAg	p.W644*		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	644					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACTGCGGAGTGGCTTACCAAG	0.512																																					p.W644X		.											.	TRAPPC10-92	0			c.G1931A						.						162.0	150.0	154.0					21																	45502876		2203	4300	6503	SO:0001587	stop_gained	7109	exon14			CGGAGTGGCTTAC	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1931G>A	21.37:g.45502876G>A	ENSP00000291574:p.Trp644*	Somatic	121	0		WXS	Illumina HiSeq	Phase_I	67	32	NM_003274	0	0	0	1	1	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Nonsense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	38	7.254018	0.98168	.	.	ENSG00000160218	ENST00000291574	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.1791	0.93615	0.0:0.0:1.0:0.0	.	.	.	.	X	644	.	ENSP00000291574:W644X	W	+	2	0	TRAPPC10	44327304	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.397000	0.66302	2.622000	0.88805	0.655000	0.94253	TGG	.		0.512	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
CELSR1	9620	broad.mit.edu	37	22	46763676	46763676	+	Missense_Mutation	SNP	G	G	T	rs367719288		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr22:46763676G>T	ENST00000262738.3	-	28	8028	c.8029C>A	c.(8029-8031)Cgc>Agc	p.R2677S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2677					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTGCATCGCGGTTCACAGCC	0.657											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R2677S													.	CELSR1-525	0			c.C8029A						.						41.0	36.0	38.0					22																	46763676		2198	4298	6496	SO:0001583	missense	9620	exon28			CATCGCGGTTCAC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8029C>A	22.37:g.46763676G>T	ENSP00000262738:p.Arg2677Ser	Somatic	126	1	941	WXS	Illumina HiSeq	Phase_I	116	6	NM_014246	0	0	6	6	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	g	0.561	-0.845056	0.02671	.	.	ENSG00000075275	ENST00000262738	T	0.36520	1.25	4.94	-4.58	0.03410	GPCR, family 2-like (1);	0.067050	0.64402	N	0.000020	T	0.06371	0.0164	N	0.00332	-1.63	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.33828	-0.9853	10	0.09084	T	0.74	.	6.9268	0.24419	0.0:0.3515:0.2591:0.3894	.	2677	Q9NYQ6	CELR1_HUMAN	S	2677	ENSP00000262738:R2677S	ENSP00000262738:R2677S	R	-	1	0	CELSR1	45142340	0.862000	0.29867	0.221000	0.23827	0.298000	0.27526	0.959000	0.29240	-1.070000	0.03149	-0.546000	0.04227	CGC	.		0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
EDEM1	9695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	5229984	5229984	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:5229984C>G	ENST00000256497.4	+	1	627	c.494C>G	c.(493-495)cCc>cGc	p.P165R	EDEM1_ENST00000445686.1_5'Flank|AC026202.1_ENST00000600805.1_5'Flank|AC026202.3_ENST00000439325.1_RNA	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	165					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGCCGTGGGCCCGACCGCGGG	0.736																																					p.P165R		.											.	EDEM1-137	0			c.C494G						.						8.0	10.0	10.0					3																	5229984		2079	4182	6261	SO:0001583	missense	9695	exon1			GTGGGCCCGACCG	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.494C>G	3.37:g.5229984C>G	ENSP00000256497:p.Pro165Arg	Somatic	44	0		WXS	Illumina HiSeq	Phase_I	54	32	NM_014674	0	0	0	0	0	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679794	0.47886	.	.	ENSG00000134109	ENST00000256497	T	0.81415	-1.49	4.81	4.81	0.61882	.	0.109188	0.64402	D	0.000005	T	0.69097	0.3073	N	0.25957	0.775	0.80722	D	1	B	0.32653	0.379	B	0.34180	0.177	T	0.66685	-0.5861	10	0.05959	T	0.93	-8.2011	17.4653	0.87631	0.0:1.0:0.0:0.0	.	165	Q92611	EDEM1_HUMAN	R	165	ENSP00000256497:P165R	ENSP00000256497:P165R	P	+	2	0	EDEM1	5204984	1.000000	0.71417	0.691000	0.30163	0.932000	0.56968	5.419000	0.66435	2.199000	0.70637	0.491000	0.48974	CCC	.		0.736	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
ACY1	95	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52022828	52022828	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:52022828C>A	ENST00000404366.2	+	14	1194	c.1048C>A	c.(1048-1050)Cgc>Agc	p.R350S	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R451S|ACY1_ENST00000476854.1_Missense_Mutation_p.R285S|ACY1_ENST00000494103.1_Missense_Mutation_p.R278S|ACY1_ENST00000458031.2_Missense_Mutation_p.R440S|ACY1_ENST00000476351.1_Missense_Mutation_p.R315S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	350					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CACTGACAACCGCTATATCCG	0.567																																					p.R350S		.											.	ACY1-154	0			c.C1048A						.						160.0	172.0	168.0					3																	52022828		2203	4300	6503	SO:0001583	missense	95	exon14			GACAACCGCTATA	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1048C>A	3.37:g.52022828C>A	ENSP00000384296:p.Arg350Ser	Somatic	85	0		WXS	Illumina HiSeq	Phase_I	138	65	NM_001198895	0	0	284	876	592	C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709106	0.68615	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.68039	0.955;0.951	T	0.80522	-0.1345	10	0.62326	D	0.03	-13.0341	19.4166	0.94703	0.0:1.0:0.0:0.0	.	440;350	B4DNW0;Q03154	.;ACY1_HUMAN	S	440;451;350;285;315;278;350	ENSP00000390557:R440S;ENSP00000420487:R451S;ENSP00000419262:R285S;ENSP00000417056:R315S;ENSP00000417618:R278S;ENSP00000384296:R350S	ENSP00000384296:R350S	R	+	1	0	ACY1;RP11-155D18.11	51997868	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	6.896000	0.75665	2.679000	0.91253	0.655000	0.94253	CGC	.		0.567	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
NT5DC2	64943	broad.mit.edu	37	3	52558884	52558884	+	Missense_Mutation	SNP	G	G	A	rs201813711	byFrequency	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:52558884G>A	ENST00000307076.4	-	13	1650	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	NT5DC2_ENST00000307092.4_Missense_Mutation_p.A358V|NT5DC2_ENST00000422318.2_Missense_Mutation_p.A454V|NT5DC2_ENST00000459839.1_Missense_Mutation_p.A429V	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	417							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCTCGACTCCGCGTCCTGATA	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		14820	0.003		0.0	False		,,,				2504	0.0				p.A454V													.	NT5DC2-514	0			c.C1361T						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	50.0	51.0	51.0		1361,1250	3.0	0.2	3		51	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	NT5DC2	NM_001134231.1,NM_022908.2	64,64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	454/558,417/521	52558884	1,13003	2203	4299	6502	SO:0001583	missense	64943	exon13			GACTCCGCGTCCT	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1250C>T	3.37:g.52558884G>A	ENSP00000302468:p.Ala417Val	Somatic	91	0		WXS	Illumina HiSeq	Phase_I	82	4	NM_001134231	0	0	43	43	0	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	CCDS2858.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.24	1.579578	0.28180	0.0	1.16E-4	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.04	3.05	0.35203	HAD-like domain (1);	0.304028	0.35936	N	0.002898	T	0.20007	0.0481	L	0.52364	1.645	0.21064	N	0.999799	B;B;P	0.36048	0.334;0.212;0.534	B;B;B	0.31547	0.085;0.041;0.132	T	0.12268	-1.0554	10	0.42905	T	0.14	-19.2435	8.8026	0.34918	0.1554:0.0:0.6959:0.1487	.	429;417;454	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	V	358;131;417;454;429	ENSP00000306017:A358V;ENSP00000418780:A131V;ENSP00000302468:A417V;ENSP00000406933:A454V;ENSP00000419547:A429V	ENSP00000302468:A417V	A	-	2	0	NT5DC2	52533924	0.988000	0.35896	0.246000	0.24233	0.417000	0.31264	5.316000	0.65815	1.131000	0.42111	0.491000	0.48974	GCG	G|0.999;A|0.001		0.667	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908	
MCM2	4171	broad.mit.edu	37	3	127323557	127323557	+	Missense_Mutation	SNP	C	C	T	rs201721106		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:127323557C>T	ENST00000265056.7	+	3	587	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	115	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGCAGCAGAGCGGGCCATGCG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		16493	0.0		0.001	False		,,,				2504	0.0				p.R115W													.	MCM2-230	0			c.C343T						.	C	TRP/ARG	0,4406		0,0,2203	21.0	25.0	24.0		343	3.4	1.0	3	dbSNP_134	24	1,8597	1.2+/-3.3	0,1,4298	no	missense	MCM2	NM_004526.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	115/905	127323557	1,13003	2203	4299	6502	SO:0001583	missense	4171	exon3			GCAGAGCGGGCCA	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.343C>T	3.37:g.127323557C>T	ENSP00000265056:p.Arg115Trp	Somatic	70	0		WXS	Illumina HiSeq	Phase_I	103	4	NM_004526	0	0	0	0	0	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.51	3.639211	0.67244	0.0	1.16E-4	ENSG00000073111	ENST00000265056;ENST00000480910	T;T	0.25749	1.78;1.78	5.29	3.38	0.38709	.	0.176748	0.50627	D	0.000109	T	0.44603	0.1301	M	0.76170	2.325	0.44352	D	0.997248	D	0.76494	0.999	P	0.56788	0.806	T	0.53027	-0.8496	10	0.72032	D	0.01	-32.7362	14.2509	0.66019	0.3832:0.6168:0.0:0.0	.	115	P49736	MCM2_HUMAN	W	115;106	ENSP00000265056:R115W;ENSP00000419802:R106W	ENSP00000265056:R115W	R	+	1	2	MCM2	128806247	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.910000	0.48766	1.182000	0.42928	0.591000	0.81541	CGG	C|0.999;T|0.000		0.692	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
PLXND1	23129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	129281631	129281631	+	Splice_Site	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:129281631A>G	ENST00000324093.4	-	27	5002	c.4824T>C	c.(4822-4824)ctT>ctC	p.L1608L	PLXND1_ENST00000393239.1_Splice_Site_p.L1608L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1608					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCACCCACCAAGGTCGACGT	0.627																																					p.L1608L	Ovarian(97;366 1484 3738 22084 39045)	.											.	PLXND1-90	0			c.T4824C						.						64.0	56.0	58.0					3																	129281631		2203	4300	6503	SO:0001630	splice_region_variant	23129	exon27			CCCACCAAGGTCG	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4825+1T>C	3.37:g.129281631A>G		Somatic	25	0		WXS	Illumina HiSeq	Phase_I	50	25	NM_015103	0	0	0	0	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																			.		0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Silent
TNIK	23043	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	170846580	170846580	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:170846580G>A	ENST00000436636.2	-	16	2040	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S	TNIK_ENST00000284483.8_Missense_Mutation_p.P566S|TNIK_ENST00000470834.1_Missense_Mutation_p.P537S|TNIK_ENST00000357327.5_Missense_Mutation_p.P537S|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000369326.5_Missense_Mutation_p.P537S|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000341852.6_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	566	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCGACCTTGGGGGCAGGTTG	0.557																																					p.P566S													.	TNIK-550	0			c.C1696T						.						53.0	57.0	56.0					3																	170846580		1961	4156	6117	SO:0001583	missense	23043	exon16			ACCTTGGGGGCAG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1696C>T	3.37:g.170846580G>A	ENSP00000399511:p.Pro566Ser	Somatic	57	2		WXS	Illumina HiSeq	Phase_I	108	45	NM_015028	0	0	0	2	2	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993752	0.54041	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000284483;ENST00000357327;ENST00000470834	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.11	5.11	0.69529	.	0.055369	0.64402	D	0.000001	T	0.35624	0.0938	N	0.17723	0.515	0.80722	D	1	B;B;B;B	0.32128	0.178;0.357;0.033;0.243	B;B;B;B	0.36959	0.237;0.237;0.084;0.119	T	0.10800	-1.0614	10	0.06625	T	0.88	.	18.7271	0.91718	0.0:0.0:1.0:0.0	.	537;566;537;566	Q9UKE5-6;Q9UKE5-4;Q9UKE5-2;Q9UKE5	.;.;.;TNIK_HUMAN	S	566;537;566;537;537	ENSP00000399511:P566S;ENSP00000358332:P537S;ENSP00000284483:P566S;ENSP00000349880:P537S;ENSP00000419990:P537S	ENSP00000284483:P566S	P	-	1	0	TNIK	172329274	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.298000	0.78815	2.652000	0.90054	0.561000	0.74099	CCA	.		0.557	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
SEL1L3	23231	broad.mit.edu	37	4	25760681	25760681	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr4:25760681T>A	ENST00000399878.3	-	21	3087	c.2965A>T	c.(2965-2967)Aac>Tac	p.N989Y	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N836Y|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N954Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	989						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGGCCAGGTTAAAAAATCCC	0.373																																					p.N989Y													.	.	0			c.A2965T						.						112.0	109.0	110.0					4																	25760681		1847	4089	5936	SO:0001583	missense	23231	exon21			CCAGGTTAAAAAA	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2965A>T	4.37:g.25760681T>A	ENSP00000382767:p.Asn989Tyr	Somatic	101	5		WXS	Illumina HiSeq	Phase_I	108	13	NM_015187	0	0	2	2	0	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.238808|4.238808	0.79800|0.79800	.|.	.|.	ENSG00000091490|ENSG00000091490	ENST00000510448|ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	.|T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Tetratricopeptide-like helical (1);	.|0.099166	.|0.64402	.|D	.|0.000001	T|T	0.71392|0.71392	0.3334|0.3334	M|M	0.68952|0.68952	2.095|2.095	0.45216|0.45216	D|D	0.998226|0.998226	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.83275	.|0.995;0.996	T|T	0.74636|0.74636	-0.3599|-0.3599	5|10	.|0.87932	.|D	.|0	-28.0464|-28.0464	15.9869|15.9869	0.80160|0.80160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|396;989	.|B4DTH5;Q68CR1	.|.;SE1L3_HUMAN	F|Y	15|989;954;836;80	.|ENSP00000382767:N989Y;ENSP00000264868:N954Y;ENSP00000425438:N836Y;ENSP00000426050:N80Y	.|ENSP00000264868:N954Y	L|N	-|-	3|1	2|0	SEL1L3|SEL1L3	25369779|25369779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.480000|5.480000	0.66820|0.66820	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	TTA|AAC	.		0.373	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
SLC30A5	64924	bcgsc.ca	37	5	68413165	68413165	+	Missense_Mutation	SNP	A	A	G	rs377546157		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr5:68413165A>G	ENST00000396591.3	+	11	1991	c.1381A>G	c.(1381-1383)Atg>Gtg	p.M461V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	461					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGCTTTAGTCATGGGACTTTT	0.453																																					p.M461V													.	SLC30A5-226	0			c.A1381G						.						198.0	185.0	189.0					5																	68413165		2203	4300	6503	SO:0001583	missense	64924	exon11			TTAGTCATGGGAC	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1381A>G	5.37:g.68413165A>G	ENSP00000379836:p.Met461Val	Somatic	112	4		WXS	Illumina HiSeq	Phase_1	134	62	NM_022902	0	0	3	5	2	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.224205	0.39300	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.59224	0.28	5.44	5.44	0.79542	.	0.136502	0.64402	D	0.000002	T	0.41696	0.1170	N	0.13299	0.325	0.80722	D	1	B;B;B	0.14012	0.001;0.005;0.009	B;B;B	0.20384	0.029;0.012;0.029	T	0.25676	-1.0125	10	0.23302	T	0.38	.	15.3146	0.74065	1.0:0.0:0.0:0.0	.	290;290;461	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	V	461;74	ENSP00000379836:M461V	ENSP00000379836:M461V	M	+	1	0	SLC30A5	68448921	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.332000	0.65911	2.287000	0.76781	0.482000	0.46254	ATG	.		0.453	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
GPR150	285601	broad.mit.edu	37	5	94957233	94957233	+	Silent	SNP	A	A	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr5:94957233A>C	ENST00000380007.2	+	1	1452	c.1254A>C	c.(1252-1254)ccA>ccC	p.P418P		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	418	Poly-Pro.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GCTTGCGCCCACCCCCTCCGC	0.682																																					p.P418P													.	GPR150-90	0			c.A1254C						.						9.0	10.0	10.0					5																	94957233		2123	4114	6237	SO:0001819	synonymous_variant	285601	exon1			GCGCCCACCCCCT	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.1254A>C	5.37:g.94957233A>C		Somatic	56	2		WXS	Illumina HiSeq	Phase_I	64	6	NM_199243	0	0	1	1	0		Silent	SNP	ENST00000380007.2	37	CCDS4074.1																																																																																			.		0.682	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2		
KCNN2	3781	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	113740442	113740442	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr5:113740442A>G	ENST00000512097.3	+	4	1908	c.890A>G	c.(889-891)aAt>aGt	p.N297S	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.N297S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	297					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ATAAACTTCAATACACGTTTT	0.373																																					p.N297S													.	KCNN2-92	0			c.A890G						.						128.0	126.0	127.0					5																	113740442		2202	4300	6502	SO:0001583	missense	3781	exon3			ACTTCAATACACG	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.890A>G	5.37:g.113740442A>G	ENSP00000427120:p.Asn297Ser	Somatic	80	1		WXS	Illumina HiSeq	Phase_I	65	18	NM_021614	0	0	0	0	0	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974549	0.74246	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98701	-5.08;-5.08	5.33	5.33	0.75918	.	0.089556	0.85682	D	0.000000	D	0.98679	0.9557	M	0.86805	2.84	0.80722	D	1	P	0.44877	0.845	P	0.48770	0.589	D	0.99525	1.0959	10	0.87932	D	0	-4.5111	14.9498	0.71064	1.0:0.0:0.0:0.0	.	297	Q9H2S1	KCNN2_HUMAN	S	297	ENSP00000427120:N297S;ENSP00000264773:N297S	ENSP00000264773:N297S	N	+	2	0	KCNN2	113768341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.224000	0.95209	2.016000	0.59253	0.402000	0.26972	AAT	.		0.373	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
HIST1H1E	3008	broad.mit.edu	37	6	26157244	26157244	+	Missense_Mutation	SNP	C	C	T	rs537217446		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:26157244C>T	ENST00000304218.3	+	1	686	c.626C>T	c.(625-627)gCc>gTc	p.A209V	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	209					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCCAAGGCAGCCAAGCCAAAG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15493	0.0		0.0	False		,,,				2504	0.0				p.A209V													.	HIST1H1E-154	0			c.C626T						.						31.0	33.0	32.0					6																	26157244		2202	4291	6493	SO:0001583	missense	3008	exon1			AGGCAGCCAAGCC	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.626C>T	6.37:g.26157244C>T	ENSP00000307705:p.Ala209Val	Somatic	161	0		WXS	Illumina HiSeq	Phase_I	156	6	NM_005321	0	0	0	0	0	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.073411	0.36566	.	.	ENSG00000168298	ENST00000304218	T	0.25579	1.79	5.51	4.64	0.57946	.	0.141424	0.45867	D	0.000340	T	0.33760	0.0874	L	0.58810	1.83	0.49798	D	0.999827	D	0.57571	0.98	D	0.70227	0.968	T	0.06075	-1.0847	10	0.36615	T	0.2	-4.4289	13.8813	0.63684	0.0:0.9262:0.0:0.0738	.	209	P10412	H14_HUMAN	V	209	ENSP00000307705:A209V	ENSP00000307705:A209V	A	+	2	0	HIST1H1E	26265223	0.958000	0.32768	1.000000	0.80357	0.999000	0.98932	3.856000	0.55964	1.452000	0.47756	0.655000	0.94253	GCC	.		0.542	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
MDGA1	266727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	37622225	37622225	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:37622225G>T	ENST00000434837.3	-	6	1985	c.807C>A	c.(805-807)ccC>ccA	p.P269P	MDGA1_ENST00000505425.1_Silent_p.P269P|MDGA1_ENST00000297153.7_Silent_p.P269P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	269	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCTGGGGGAGGGGATCACCGC	0.642																																					p.P269P		.											.	MDGA1-91	0			c.C807A						.						45.0	48.0	47.0					6																	37622225		2076	4205	6281	SO:0001819	synonymous_variant	266727	exon6			GGGGAGGGGATCA	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.807C>A	6.37:g.37622225G>T		Somatic	115	0		WXS	Illumina HiSeq	Phase_I	79	34	NM_153487	0	0	0	0	0	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																			.		0.642	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
FILIP1	27145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	76023889	76023889	+	Missense_Mutation	SNP	T	T	A	rs540413529		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:76023889T>A	ENST00000237172.7	-	5	1989	c.1659A>T	c.(1657-1659)aaA>aaT	p.K553N	FILIP1_ENST00000393004.2_Missense_Mutation_p.K553N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.K454N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	553										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTTTAAAAGTTTCTTACTTT	0.299																																					p.K553N													.	FILIP1-94	0			c.A1659T						.						53.0	55.0	55.0					6																	76023889		2202	4296	6498	SO:0001583	missense	27145	exon5			TAAAAGTTTCTTA	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1659A>T	6.37:g.76023889T>A	ENSP00000237172:p.Lys553Asn	Somatic	133	2		WXS	Illumina HiSeq	Phase_I	121	41	NM_015687	0	0	0	0	0	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365070	0.41902	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20881	2.04;2.04;2.07	5.95	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.79258	2.445	0.50039	D	0.99984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.986;0.994	T	0.07731	-1.0757	10	0.52906	T	0.07	-33.9484	9.0168	0.36175	0.0:0.6368:0.0:0.3632	.	553;553;553	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	553;553;454	ENSP00000376728:K553N;ENSP00000237172:K553N;ENSP00000359037:K454N	ENSP00000237172:K553N	K	-	3	2	FILIP1	76080609	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.593000	0.23999	0.437000	0.26423	-0.132000	0.14878	AAA	.		0.299	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
USP45	85015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	99894085	99894085	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:99894085T>C	ENST00000327681.6	-	14	2095	c.1563A>G	c.(1561-1563)agA>agG	p.R521R	USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Silent_p.R473R|USP45_ENST00000392738.2_Silent_p.R201R|USP45_ENST00000500704.2_Silent_p.R521R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	521	USP.		R -> T (in dbSNP:rs41288947). {ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACTACTGGATCTGAACAGCC	0.483																																					p.R521R		.											.	USP45-637	0			c.A1563G						.						83.0	69.0	74.0					6																	99894085		2203	4300	6503	SO:0001819	synonymous_variant	85015	exon14			ACTGGATCTGAAC	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1563A>G	6.37:g.99894085T>C		Somatic	69	0		WXS	Illumina HiSeq	Phase_I	60	23	NM_001080481	0	0	0	0	0	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																			.		0.483	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
ENPP1	5167	bcgsc.ca	37	6	132211512	132211512	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:132211512A>T	ENST00000360971.2	+	25	2659	c.2639A>T	c.(2638-2640)gAa>gTa	p.E880V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	880	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGGTTGAAGAATTGTTAATG	0.393																																					p.E880V	Colon(104;336 1535 5856 11019 33782)												.	ENPP1-95	0			c.A2639T						.						132.0	123.0	126.0					6																	132211512		2203	4300	6503	SO:0001583	missense	5167	exon25			TTGAAGAATTGTT	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2639A>T	6.37:g.132211512A>T	ENSP00000354238:p.Glu880Val	Somatic	168	1		WXS	Illumina HiSeq	Phase_1	168	46	NM_006208	0	0	4	4	0	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005981	0.74932	.	.	ENSG00000197594	ENST00000360971	T	0.69926	-0.44	5.73	5.73	0.89815	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.231734	0.43260	D	0.000599	T	0.80788	0.4690	M	0.87381	2.88	0.50632	D	0.999888	D	0.63880	0.993	D	0.72075	0.976	D	0.83861	0.0268	10	0.56958	D	0.05	-9.8218	15.671	0.77274	1.0:0.0:0.0:0.0	.	880	P22413	ENPP1_HUMAN	V	880	ENSP00000354238:E880V	ENSP00000354238:E880V	E	+	2	0	ENPP1	132253205	1.000000	0.71417	0.927000	0.36925	0.638000	0.38207	7.323000	0.79105	2.184000	0.69523	0.477000	0.44152	GAA	.		0.393	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
COPS6	10980	ucsc.edu;bcgsc.ca	37	7	99686962	99686962	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:99686962T>C	ENST00000303904.3	+	2	163	c.126T>C	c.(124-126)gcT>gcC	p.A42A	COPS6_ENST00000418625.1_Silent_p.A41A	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	42	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTTCCGTCGCTCTCCATCCCC	0.607																																					p.A42A													.	COPS6-658	0			c.T126C						.						152.0	139.0	143.0					7																	99686962		2203	4300	6503	SO:0001819	synonymous_variant	10980	exon2			CGTCGCTCTCCAT	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.126T>C	7.37:g.99686962T>C		Somatic	70	2		WXS	Illumina HiSeq		76	33	NM_006833	0	0	111	203	92	A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	CCDS5682.1																																																																																			.		0.607	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	
ZNF425	155054	broad.mit.edu	37	7	148800800	148800800	+	Silent	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:148800800A>G	ENST00000378061.2	-	4	2295	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	721					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CACAAGAAAAAGGCCTCTCCC	0.567																																					p.P721P													.	ZNF425-136	0			c.T2163C						.						77.0	68.0	71.0					7																	148800800		2203	4300	6503	SO:0001819	synonymous_variant	155054	exon4			AGAAAAAGGCCTC	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2163T>C	7.37:g.148800800A>G		Somatic	46	0		WXS	Illumina HiSeq	Phase_I	101	3	NM_001001661	0	0	1	1	0	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																			.		0.567	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
TGS1	96764	broad.mit.edu;bcgsc.ca	37	8	56686242	56686242	+	Missense_Mutation	SNP	G	G	A	rs140849025		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr8:56686242G>A	ENST00000260129.5	+	1	542	c.65G>A	c.(64-66)tGt>tAt	p.C22Y	TMEM68_ENST00000523073.1_5'Flank|TMEM68_ENST00000521229.1_5'Flank|TMEM68_ENST00000519784.1_5'Flank|TMEM68_ENST00000334667.2_5'Flank|TMEM68_ENST00000522576.1_5'Flank|TMEM68_ENST00000434581.2_5'Flank	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	22					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGGGAGGATTGTAAGATACTG	0.488																																					p.C22Y	Esophageal Squamous(34;275 823 4842 34837 48447)												.	TGS1-227	0			c.G65A						.						138.0	138.0	138.0					8																	56686242		2203	4300	6503	SO:0001583	missense	96764	exon1			AGGATTGTAAGAT	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.65G>A	8.37:g.56686242G>A	ENSP00000260129:p.Cys22Tyr	Somatic	67	2		WXS	Illumina HiSeq	Phase_I	47	38	NM_024831	0	0	0	0	0	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.651060	0.00000	.	.	ENSG00000137574	ENST00000260129	T	0.16743	2.32	4.83	-9.65	0.00537	.	2.328040	0.01178	N	0.007037	T	0.04003	0.0112	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	10	0.02654	T	1	11.8686	4.4565	0.11645	0.0822:0.3072:0.4524:0.1581	.	22	Q96RS0	TGS1_HUMAN	Y	22	ENSP00000260129:C22Y	ENSP00000260129:C22Y	C	+	2	0	TGS1	56848796	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.180000	0.00279	-7.058000	0.00002	-3.382000	0.00040	TGT	G|1.000;T|0.000		0.488	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
PRDM14	63978	broad.mit.edu	37	8	70981965	70981965	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr8:70981965G>T	ENST00000276594.2	-	2	332	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	44					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCCACGGTGGCCAGGCTGTT	0.657																																					p.A44D	NSCLC(129;99 1813 5906 40656 46114)												.	PRDM14-93	0			c.C131A						.						15.0	16.0	16.0					8																	70981965		2196	4295	6491	SO:0001583	missense	63978	exon2			ACGGTGGCCAGGC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.131C>A	8.37:g.70981965G>T	ENSP00000276594:p.Ala44Asp	Somatic	84	1		WXS	Illumina HiSeq	Phase_I	63	5	NM_024504	0	0	0	0	0	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524450	0.44969	.	.	ENSG00000147596	ENST00000276594;ENST00000426346	T	0.12255	2.7	5.48	2.68	0.31781	.	0.713478	0.12923	N	0.428054	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	B	0.30482	0.281	B	0.24701	0.055	T	0.23048	-1.0199	10	0.66056	D	0.02	0.2737	9.427	0.38586	0.076:0.2701:0.6538:0.0	.	44	Q9GZV8	PRD14_HUMAN	D	44	ENSP00000276594:A44D	ENSP00000276594:A44D	A	-	2	0	PRDM14	71144519	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.601000	0.24119	0.261000	0.21753	0.655000	0.94253	GCC	.		0.657	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
STOML2	30968	broad.mit.edu	37	9	35101777	35101777	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:35101777G>A	ENST00000356493.5	-	5	436	c.374C>T	c.(373-375)gCc>gTc	p.A125V	STOML2_ENST00000452248.2_Missense_Mutation_p.A125V|STOML2_ENST00000487490.1_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	125					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGGGTGACGGCATACTCAGG	0.507																																					p.A125V													.	STOML2-90	0			c.C374T						.						148.0	147.0	147.0					9																	35101777		2203	4300	6503	SO:0001583	missense	30968	exon5			GTGACGGCATACT	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.374C>T	9.37:g.35101777G>A	ENSP00000348886:p.Ala125Val	Somatic	97	0		WXS	Illumina HiSeq	Phase_I	107	4	NM_013442	0	0	79	79	0	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226127	0.95173	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.94046	-3.34;-3.34	5.17	5.17	0.71159	.	0.098302	0.64402	D	0.000002	D	0.98381	0.9462	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.995;0.998	D	0.99593	1.0976	10	0.87932	D	0	-1.6791	18.4617	0.90741	0.0:0.0:1.0:0.0	.	125;125	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	125	ENSP00000348886:A125V;ENSP00000395743:A125V	ENSP00000348886:A125V	A	-	2	0	STOML2	35091777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.691000	0.91804	0.655000	0.94253	GCC	.		0.507	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442	
GBA2	57704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35736272	35736272	+	IGR	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:35736272T>C	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Missense_Mutation_p.S249P	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATGTACTCCTCTGACACAAG	0.552											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S249P		.											.	CREB3-90	0			c.T745C						.						220.0	207.0	211.0					9																	35736272		2203	4300	6503	SO:0001628	intergenic_variant	10488	exon8			TACTCCTCTGACA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736272T>C		Somatic	75	0	857	WXS	Illumina HiSeq	Phase_I	55	23	NM_006368	0	0	21	48	27	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018246	0.75275	.	.	ENSG00000107175	ENST00000353704	T	0.67865	-0.29	5.68	4.56	0.56223	.	0.238919	0.43260	D	0.000597	T	0.74068	0.3668	L	0.56769	1.78	0.42787	D	0.993883	D;D	0.76494	0.999;0.996	D;D	0.66196	0.942;0.919	T	0.71394	-0.4606	10	0.26408	T	0.33	.	10.8203	0.46601	0.0:0.0743:0.0:0.9257	.	273;249	O43889;O43889-2	CREB3_HUMAN;.	P	249	ENSP00000342136:S249P	ENSP00000342136:S249P	S	+	1	0	CREB3	35726272	0.999000	0.42202	0.698000	0.30274	0.980000	0.70556	3.862000	0.56009	2.182000	0.69389	0.533000	0.62120	TCT	.		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aaafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383																																					p.K170fs													.	IL17RB-229	0			c.508delA						.						42.0	43.0	42.0					3																	53889347		2203	4300	6503	SO:0001589	frameshift_variant	55540	exon6			AAATATAAAAAAA	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.508delA	3.37:g.53889347delA	ENSP00000288167:p.Lys172fs	Somatic	212	0		WXS	Illumina HiSeq	Phase_I	288	9	NM_018725	0	0	0	0	0	Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Del	DEL	ENST00000288167.3	37	CCDS2874.1																																																																																			.		0.383	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234	
ENPP1	5167	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	132211511	132211511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:132211511delG	ENST00000360971.2	+	25	2658	c.2638delG	c.(2638-2640)gaafs	p.E880fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	880	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGGGTTGAAGAATTGTTAAT	0.388																																					p.E880fs	Colon(104;336 1535 5856 11019 33782)	.											.	ENPP1-95	0			c.2638delG						.						132.0	123.0	126.0					6																	132211511		2203	4300	6503	SO:0001589	frameshift_variant	5167	exon25			.	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2638delG	6.37:g.132211511delG	ENSP00000354238:p.Glu880fs	Somatic	165	0		WXS	Illumina HiSeq	Phase_I	167	46	NM_006208	0	0	0	0	0	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Frame_Shift_Del	DEL	ENST00000360971.2	37	CCDS5150.2																																																																																			.		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
ENPP1	5167	hgsc.bcm.edu	37	6	132211511	132211512	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:132211511_132211512delGA	ENST00000360971.2	+	25	2658_2659	c.2638_2639delGA	c.(2638-2640)gaafs	p.E880fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	880	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGGGTTGAAGAATTGTTAATG	0.391																																					p.880_880del	Colon(104;336 1535 5856 11019 33782)	.											.	ENPP1-95	0			c.2638_2639del						.																																			SO:0001589	frameshift_variant	5167	exon25			.	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2638_2639delGA	6.37:g.132211511_132211512delGA	ENSP00000354238:p.Glu880fs	Somatic	167	0		WXS	Illumina HiSeq	Phase_I	167	33	NM_006208	0	0	0	0	0	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Frame_Shift_Del	DEL	ENST00000360971.2	37	CCDS5150.2																																																																																			.		0.391	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
DSCAML1	57453	broad.mit.edu	37	11	117389379	117389380	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:117389379_117389380insG	ENST00000321322.6	-	7	1492_1493	c.1491_1492insC	c.(1489-1494)cccacgfs	p.T498fs	DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.T228fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	438	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGGTGACCGTGGGGGGCGGGG	0.658																																					p.T498fs													.	DSCAML1-159	0			c.1492_1493insC						.																																			SO:0001589	frameshift_variant	57453	exon7			TGACCGTGGGGGG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1492dupC	11.37:g.117389385_117389385dupG	ENSP00000315465:p.Thr498fs	Somatic	35	0		WXS	Illumina HiSeq	Phase_I	32	8	NM_020693	0	0	0	0	0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Frame_Shift_Ins	INS	ENST00000321322.6	37	CCDS8384.1																																																																																			.		0.658	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
F13A1	2162	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	6222265	6222266	+	Splice_Site	INS	-	-	CACA			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:6222265_6222266insCACA	ENST00000264870.3	-	8	1377_1378		c.e8+1			NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATCAAACTCACCACACTGAATC	0.376																																					.		.											.	F13A1-519	0			c.1112+1->TGTG						.																																			SO:0001630	splice_region_variant	2162	exon9			.	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1112+1->TGTG	6.37:g.6222266_6222269dupCACA		Somatic	55	0		WXS	Illumina HiSeq	Phase_I	56	22	NM_000129	0	0	0	0	0	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Splice_Site	INS	ENST00000264870.3	37	CCDS4496.1																																																																																			.		0.376	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	Intron
NOL7	51406	broad.mit.edu	37	6	13620991	13620992	+	Frame_Shift_Ins	INS	-	-	A	rs544905440	byFrequency	TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:13620991_13620992insA	ENST00000451315.2	+	8	738_739	c.706_707insA	c.(706-708)caafs	p.Q236fs	AL441883.1_ENST00000600057.1_Frame_Shift_Ins_p.W44fs|NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			TCTAGGAATCCAAAAAAAACAA	0.267													AGAAAAAA|AAAAAAAA|AAAAAAAAA|complex_insertion	3	0.000599042	0.0015	0.0	5008	,	,		15409	0.0		0.0	False		,,,				2504	0.001				p.Q236fs													.	NOL7-90	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.706_707insA						.			26,4238		0,26,2106						4.2	0.8			31	31,8199		0,31,4084	no	frameshift	NOL7	NM_016167.3		0,57,6190	A1A1,A1R,RR		0.3767,0.6098,0.4562				57,12437				SO:0001589	frameshift_variant	51406	exon8			GGAATCCAAAAAA	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.714dupA	6.37:g.13620999_13620999dupA	ENSP00000405674:p.Gln236fs	Somatic	301	0		WXS	Illumina HiSeq	Phase_I	307	0	NM_016167	0	0	0	0	0	Q5T297|Q9Y3U7	Frame_Shift_Ins	INS	ENST00000451315.2	37	CCDS4528.1																																																																																			.		0.267	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167	
FLNC	2318	broad.mit.edu	37	7	128483884	128483885	+	Frame_Shift_Ins	INS	-	-	G	rs200474685		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:128483884_128483885insG	ENST00000325888.8	+	19	3107_3108	c.2846_2847insG	c.(2845-2850)gaccctfs	p.D949fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D949fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	949					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TATGGCGGGGACCCTGTCCCCA	0.535																																					p.D949fs													.	FLNC-141	0			c.2846_2847insG						.																																			SO:0001589	frameshift_variant	2318	exon19			GCGGGGACCCTGT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128483884_128483885insG	ENSP00000327145:p.Asp949fs	Somatic	121	0		WXS	Illumina HiSeq	Phase_I	206	6	NM_001127487	0	0	0	0	0	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	CCDS43644.1																																																																																			.		0.535	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
ZNF814	730051	hgsc.bcm.edu	37	19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																					p.G320E		.											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)	c.G959A						.																																			SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu	Somatic	74.0	0.0		WXS	Illumina HiSeq	Phase_I	99.0	7.0	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
