#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AADACL4	343066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12711197	12711197	+	Missense_Mutation	SNP	T	T	C	rs199989547		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:12711197T>C	ENST00000376221.1	+	2	224	c.224T>C	c.(223-225)tTa>tCa	p.L75S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	75						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.L75S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTCGTTTTTTACATGATAGC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											97.0	96.0	97.0					1																	12711197		2203	4300	6503	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.224T>C	1.37:g.12711197T>C	ENSP00000365395:p.Leu75Ser			Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647408	0.29246	.	.	ENSG00000204518	ENST00000376221	T	0.04917	3.53	5.03	3.9	0.45041	.	2.700480	0.02460	N	0.086455	T	0.11707	0.0285	L	0.59436	1.845	0.09310	N	1	B	0.23490	0.086	B	0.28553	0.091	T	0.40079	-0.9582	10	0.38643	T	0.18	0.2123	8.8017	0.34912	0.0:0.0913:0.0:0.9087	.	75	Q5VUY2	ADCL4_HUMAN	S	75	ENSP00000365395:L75S	ENSP00000365395:L75S	L	+	2	0	AADACL4	12633784	0.021000	0.18746	0.001000	0.08648	0.066000	0.16364	2.575000	0.46025	0.748000	0.32831	0.459000	0.35465	TTA		0.463	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		NM_001013630	
ABCD3	5825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94946103	94946103	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:94946103A>G	ENST00000370214.4	+	9	792	c.768A>G	c.(766-768)atA>atG	p.I256M	ABCD3_ENST00000394233.2_Missense_Mutation_p.I256M|ABCD3_ENST00000536817.1_Missense_Mutation_p.I183M|ABCD3_ENST00000454898.2_Missense_Mutation_p.I280M	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.I256M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGATGACAATAACTGAGCAAA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											119.0	115.0	116.0					1																	94946103		2203	4300	6503	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.768A>G	1.37:g.94946103A>G	ENSP00000359233:p.Ile256Met		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035705	0.35893	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.13	0.872	0.19113	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.166361	0.53938	D	0.000050	T	0.73799	0.3633	N	0.04959	-0.14	0.38906	D	0.957431	B;P;B	0.40050	0.001;0.7;0.04	B;B;B	0.38755	0.005;0.281;0.065	T	0.72727	-0.4206	10	0.56958	D	0.05	-16.0744	1.5923	0.02656	0.2074:0.1977:0.1033:0.4916	.	280;256;256	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	M	256;280;183;256	ENSP00000377780:I256M;ENSP00000403357:I280M;ENSP00000440692:I183M;ENSP00000359233:I256M	ENSP00000359233:I256M	I	+	3	3	ABCD3	94718691	0.970000	0.33590	1.000000	0.80357	0.982000	0.71751	0.068000	0.14531	0.310000	0.22990	0.528000	0.53228	ATA		0.388	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858	
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48538731	48538731	+	Splice_Site	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:48538731G>C	ENST00000300441.4	+	3	557	c.453G>C	c.(451-453)ctG>ctC	p.L151L	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Splice_Site_p.L176L	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	151					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L151L(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCATCATTCTGGTGAGGAGGG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	30.0	32.0					17																	48538731		2203	4300	6503	SO:0001630	splice_region_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.453+1G>C	17.37:g.48538731G>C			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	CCDS11567.1																																																																																				0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	Silent
AKR1C1	1645	broad.mit.edu;hgsc.bcm.edu	37	10	5011032	5011032	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:5011032G>T	ENST00000380872.4	+	5	658	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.D156Y|AKR1C1_ENST00000380859.1_Missense_Mutation_p.D158Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	156					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.D156Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GAAGTGTAAAGATGCAGGATT	0.478																																					Colon(130;2054 2316 13360 15380)												1	Substitution - Missense(1)	kidney(1)											136.0	119.0	125.0					10																	5011032		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.466G>T	10.37:g.5011032G>T	ENSP00000370254:p.Asp156Tyr		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.693219|1.693219	0.30052|0.30052	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859|ENST00000442997	T;T;T|T	0.54279|0.28069	0.58;0.58;0.58|1.63	2.1|2.1	2.1|2.1	0.27182|0.27182	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);|.	0.083426|.	0.48286|.	D|.	0.000188|.	T|T	0.48909|0.48909	0.1526|0.1526	M|M	0.82716|0.82716	2.605|2.605	0.47094|0.47094	D|D	0.999313|0.999313	D|.	0.61080|.	0.989|.	P|.	0.59221|.	0.854|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|7	0.87932|0.51188	D|T	0|0.08	.|.	10.2386|10.2386	0.43299|0.43299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	156|.	Q04828|.	AK1C1_HUMAN|.	Y|N	156;156;158|122	ENSP00000412248:D156Y;ENSP00000370254:D156Y;ENSP00000370240:D158Y|ENSP00000416415:K122N	ENSP00000370240:D158Y|ENSP00000416415:K122N	D|K	+|+	1|3	0|2	AKR1C1|AKR1C1	5001032|5001032	1.000000|1.000000	0.71417|0.71417	0.215000|0.215000	0.23724|0.23724	0.082000|0.082000	0.17680|0.17680	7.735000|7.735000	0.84939|0.84939	1.475000|1.475000	0.48197|0.48197	0.305000|0.305000	0.20034|0.20034	GAT|AAG		0.478	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2		NM_001353	
ATXN2L	11273	hgsc.bcm.edu;ucsc.edu	37	16	28847383	28847383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:28847383delG	ENST00000336783.4	+	22	3192	c.3025delG	c.(3025-3027)gggfs	p.G1009fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1015fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1009					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCCCAGAGTGGGGTGCCTGC	0.706																																																	0													37.0	45.0	42.0					16																	28847383		2195	4298	6493	SO:0001589	frameshift_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3025delG	16.37:g.28847383delG	ENSP00000338718:p.Gly1009fs		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	CCDS10641.1																																																																																				0.706	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1		NM_007245	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439913	52439913	+	Nonsense_Mutation	SNP	G	G	A	rs387906849		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr3:52439913G>A	ENST00000460680.1	-	10	1270	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q249*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGCTCTGGCTGTGTTACTCTT	0.517			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											61.0	62.0	62.0					3																	52439913		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.799C>T	3.37:g.52439913G>A	ENSP00000417132:p.Gln267*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260648	0.95368	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.110225	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.8573	19.4309	0.94765	0.0:0.0:1.0:0.0	.	.	.	.	X	267;249	.	ENSP00000296288:Q249X	Q	-	1	0	BAP1	52414953	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	6.676000	0.74498	2.663000	0.90544	0.561000	0.74099	CAG		0.517	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
BAP1	8314	broad.mit.edu;hgsc.bcm.edu	37	3	52440295	52440295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr3:52440295G>A	ENST00000460680.1	-	9	1228	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q235*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q253*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGTACTGTCTGACGGTTCACC	0.602			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											128.0	96.0	107.0					3																	52440295		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.757C>T	3.37:g.52440295G>A	ENSP00000417132:p.Gln253*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	40	8.384367	0.98786	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.1034	20.3731	0.98895	0.0:0.0:1.0:0.0	.	.	.	.	X	253;235	.	ENSP00000296288:Q235X	Q	-	1	0	BAP1	52415335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.829000	0.97493	0.650000	0.86243	CAG		0.602	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32640716	32640716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:32640716C>A	ENST00000421745.2	+	10	2491	c.2357C>A	c.(2356-2358)tCa>tAa	p.S786*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	786					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S786*(1)|p.S758*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGCTGGAATCAAATCTTGCT	0.368																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Nonsense(2)	kidney(2)											67.0	71.0	70.0					2																	32640716		2203	4300	6503	SO:0001587	stop_gained	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2357C>A	2.37:g.32640716C>A	ENSP00000393596:p.Ser786*		Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	39	7.697085	0.98438	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.76	5.76	0.90799	.	0.190297	0.37348	N	0.002140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	786	.	ENSP00000393596:S786X	S	+	2	0	BIRC6	32494220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.931000	0.56529	2.726000	0.93360	0.655000	0.94253	TCA		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
CAMK1D	57118	hgsc.bcm.edu;ucsc.edu	37	10	12833227	12833228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:12833227_12833228insA	ENST00000378847.3	+	6	973_974	c.636_637insA	c.(637-639)atcfs	p.I213fs	CAMK1D_ENST00000378845.1_Frame_Shift_Ins_p.I213fs	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGATTGCCTACATCTTGTAAGT	0.446																																																	0																																										SO:0001589	frameshift_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.637dupA	10.37:g.12833228_12833228dupA	ENSP00000368124:p.Ile213fs		B0YIY0|Q9HD31	Frame_Shift_Ins	INS	ENST00000378847.3	37	CCDS7091.1																																																																																				0.446	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1		NM_020397	
CBR1	873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37445149	37445149	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr21:37445149T>G	ENST00000290349.6	+	3	978	c.803T>G	c.(802-804)tTt>tGt	p.F268C	SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	268					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)	p.F268C(1)		endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CATGGACAATTTGTTTCAGAG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											51.0	55.0	54.0					21																	37445149		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.803T>G	21.37:g.37445149T>G	ENSP00000290349:p.Phe268Cys		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742828	0.49151	.	.	ENSG00000159228	ENST00000290349	T	0.10192	2.9	5.96	5.96	0.96718	NAD(P)-binding domain (1);	0.133571	0.64402	D	0.000001	T	0.33904	0.0879	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.09335	-1.0679	10	0.87932	D	0	-20.7392	12.1056	0.53810	0.1285:0.0:0.0:0.8715	.	268	P16152	CBR1_HUMAN	C	268	ENSP00000290349:F268C	ENSP00000290349:F268C	F	+	2	0	CBR1	36367019	1.000000	0.71417	0.968000	0.41197	0.142000	0.21351	2.770000	0.47662	2.285000	0.76669	0.533000	0.62120	TTT		0.547	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			
CDADC1	81602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49852533	49852533	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr13:49852533C>T	ENST00000251108.6	+	7	1211	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CDADC1_ENST00000444959.1_Silent_p.Y168Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	366							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.Y366Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATGTGGTTACAATGCTTTTC	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											421.0	359.0	380.0					13																	49852533		2203	4300	6503	SO:0001819	synonymous_variant	81602			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1098C>T	13.37:g.49852533C>T			Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	CCDS9415.1																																																																																				0.408	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2		NM_030911	
CDKN2AIP	55602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184366710	184366710	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:184366710A>G	ENST00000504169.1	+	2	502	c.295A>G	c.(295-297)Aaa>Gaa	p.K99E	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.K99E|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.K99E	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	99					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.K99E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATGGATAAAATACTTAG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											73.0	74.0	74.0					4																	184366710		2203	4300	6503	SO:0001583	missense	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.295A>G	4.37:g.184366710A>G	ENSP00000427108:p.Lys99Glu		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	31	5.085764	0.94100	.	.	ENSG00000168564	ENST00000504169;ENST00000302350;ENST00000510928	.	.	.	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000001	T	0.74764	0.3759	L	0.49126	1.545	0.58432	D	0.999997	D	0.71674	0.998	D	0.69654	0.965	T	0.76713	-0.2858	9	0.87932	D	0	-17.3568	16.7021	0.85357	1.0:0.0:0.0:0.0	.	99	Q9NXV6	CARF_HUMAN	E	99	.	ENSP00000303788:K99E	K	+	1	0	CDKN2AIP	184603704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.343000	0.79666	0.533000	0.62120	AAA		0.383	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1		NM_017632	
CUZD1	50624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124594540	124594540	+	Missense_Mutation	SNP	C	C	T	rs188322992	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:124594540C>T	ENST00000368904.1	-	9	2013	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	CUZD1_ENST00000545804.1_Missense_Mutation_p.R355H|CUZD1_ENST00000392790.1_Missense_Mutation_p.R355H					CUB and zona pellucida-like domains 1									p.R355H(11)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGTTTCTGACGGGTGATCAC	0.343													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19043	0.0		0.001	False		,,,				2504	0.0																11	Substitution - Missense(11)	kidney(11)						C	HIS/ARG	0,4406		0,0,2203	120.0	114.0	116.0		1064	3.6	1.0	10		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUZD1	NM_022034.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	355/608	124594540	1,13005	2203	4300	6503	SO:0001583	missense	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1064G>A	10.37:g.124594540C>T	ENSP00000357900:p.Arg355His			Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	15.95	2.984056	0.53827	0.0	1.16E-4	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.85484	-1.99;-1.99;-1.99	4.51	3.59	0.41128	Zona pellucida sperm-binding protein (3);	0.178410	0.51477	N	0.000094	D	0.85894	0.5803	M	0.91872	3.25	0.42123	D	0.991438	P	0.43024	0.798	B	0.33690	0.168	D	0.87744	0.2587	10	0.87932	D	0	-8.859	12.7709	0.57421	0.0:0.9171:0.0:0.0829	.	355	Q86UP6	CUZD1_HUMAN	H	355;74;74;74;355;355	ENSP00000357900:R355H;ENSP00000441590:R355H;ENSP00000376540:R355H	ENSP00000357895:R74H	R	-	2	0	CUZD1	124584530	0.229000	0.23729	0.991000	0.47740	0.946000	0.59487	2.615000	0.46368	1.001000	0.39076	0.460000	0.39030	CGT		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2		NM_022034	
DDX6	1656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118656898	118656898	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:118656898C>T	ENST00000526070.2	-	2	423	c.63G>A	c.(61-63)ctG>ctA	p.L21L	DDX6_ENST00000534980.1_Silent_p.L21L|DDX6_ENST00000264018.4_Silent_p.L21L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	21					cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L10L(1)|p.L21L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CAGGGCCTCTCAGCTGACCAT	0.478			T	IGH@	B-NHL																																			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	2	Substitution - coding silent(2)	kidney(2)											95.0	93.0	94.0					11																	118656898		1897	4126	6023	SO:0001819	synonymous_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.63G>A	11.37:g.118656898C>T			Q5D048	Silent	SNP	ENST00000526070.2	37	CCDS44751.1																																																																																				0.478	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2		NM_004397	
DOCK8	81704	hgsc.bcm.edu	37	9	311956	311957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:311956_311957insG	ENST00000453981.1	+	6	643_644	c.531_532insG	c.(532-534)ggcfs	p.G178fs	DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.G110fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.G110fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	178					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTCACAGGCAGGCCCCCGCCA	0.545																																																	0																																										SO:0001589	frameshift_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.533dupG	9.37:g.311958_311958dupG	ENSP00000408464:p.Gly178fs		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	CCDS6440.2																																																																																				0.545	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307	
DPYD	1806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	97564120	97564120	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:97564120C>T	ENST00000370192.3	-	21	2791	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	897					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.L897L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTTGTTCTTTCAGTCTAATCT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											156.0	158.0	157.0					1																	97564120		2203	4300	6503	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2691G>A	1.37:g.97564120C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.353	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110	
EHHADH	1962	hgsc.bcm.edu	37	3	184971754	184971755	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr3:184971754_184971755insG	ENST00000231887.3	-	1	131_132	c.56_57insC	c.(55-57)ccgfs	p.P19fs	EHHADH_ENST00000440662.1_Frame_Shift_Ins_p.P19fs|hsa-mir-5588_ENST00000581890.1_RNA|EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	19	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CGTTGACCGGCGGGTTTCGGAG	0.668																																																	0																																										SO:0001589	frameshift_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.57dupC	3.37:g.184971757_184971757dupG	ENSP00000231887:p.Pro19fs		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Frame_Shift_Ins	INS	ENST00000231887.3	37	CCDS33901.1																																																																																				0.668	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			
EIF2AK4	440275	hgsc.bcm.edu;ucsc.edu	37	15	40299258	40299258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr15:40299258delT	ENST00000263791.5	+	24	3442	c.3399delT	c.(3397-3399)aatfs	p.N1133fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.N1105fs|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1133	Histidyl-tRNA synthetase-like.			N -> I (in Ref. 6; CAB58360). {ECO:0000305}.	cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATATATTGAATTTAAAACGGT	0.303																																																	0													61.0	56.0	58.0					15																	40299258		1798	4076	5874	SO:0001589	frameshift_variant	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3399delT	15.37:g.40299258delT	ENSP00000263791:p.Asn1133fs		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	ENST00000263791.5	37	CCDS42016.1																																																																																				0.303	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			
EXOC2	55770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	532529	532529	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:532529A>G	ENST00000230449.4	-	23	2455	c.2320T>C	c.(2320-2322)Tcc>Ccc	p.S774P	EXOC2_ENST00000448181.3_Missense_Mutation_p.S369P	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	774					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S774P(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGTTCTAAGGAGCCAACGATG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											125.0	119.0	121.0					6																	532529		2203	4300	6503	SO:0001583	missense	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2320T>C	6.37:g.532529A>G	ENSP00000230449:p.Ser774Pro		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828161	0.71143	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.28255	1.62;1.62	5.67	5.67	0.87782	.	0.052488	0.85682	D	0.000000	T	0.19604	0.0471	M	0.63428	1.95	0.80722	D	1	P	0.40875	0.731	B	0.32533	0.147	T	0.08106	-1.0738	10	0.59425	D	0.04	-0.0072	16.2014	0.82084	1.0:0.0:0.0:0.0	.	774	Q96KP1	EXOC2_HUMAN	P	774;369	ENSP00000230449:S774P;ENSP00000398113:S369P	ENSP00000230449:S774P	S	-	1	0	EXOC2	477529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.880000	0.92407	2.281000	0.76405	0.533000	0.62120	TCC		0.378	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1		NM_018303	
FAM110B	90362	broad.mit.edu	37	8	59059205	59059205	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:59059205A>G	ENST00000361488.3	+	5	1296	c.416A>G	c.(415-417)cAc>cGc	p.H139R	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	139						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H139R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGGCACAAGCACAGCTCCCGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											25.0	27.0	27.0					8																	59059205		2203	4300	6503	SO:0001583	missense	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.416A>G	8.37:g.59059205A>G	ENSP00000355204:p.His139Arg		Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	6.181	0.401653	0.11696	.	.	ENSG00000169122	ENST00000361488	T	0.28666	1.6	5.53	4.35	0.52113	.	0.387744	0.29631	N	0.011611	T	0.19208	0.0461	N	0.19112	0.55	0.38331	D	0.943796	B	0.16802	0.019	B	0.12156	0.007	T	0.07809	-1.0753	9	.	.	.	-17.1564	11.81	0.52177	0.8683:0.0:0.0:0.1317	.	139	Q8TC76	F110B_HUMAN	R	139	ENSP00000355204:H139R	.	H	+	2	0	FAM110B	59221759	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.391000	0.52530	0.898000	0.36418	0.459000	0.35465	CAC		0.642	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2		NM_147189	
FAT4	79633	broad.mit.edu;hgsc.bcm.edu	37	4	126398472	126398472	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:126398472A>G	ENST00000394329.3	+	13	12469	c.12456A>G	c.(12454-12456)gcA>gcG	p.A4152A	FAT4_ENST00000335110.5_Silent_p.A2415A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4152	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4117A(1)|p.A4152A(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTGGCAGCACAAGGCATCC	0.393																																																	2	Substitution - coding silent(2)	kidney(2)											132.0	130.0	130.0					4																	126398472		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12456A>G	4.37:g.126398472A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45929741	45929741	+	Silent	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:45929741G>A	ENST00000327858.6	+	7	842	c.747G>A	c.(745-747)ggG>ggA	p.G249G	FBLN1_ENST00000442170.2_Silent_p.G249G|FBLN1_ENST00000340923.5_Silent_p.G249G|FBLN1_ENST00000348697.2_Silent_p.G249G|FBLN1_ENST00000402984.3_Silent_p.G287G|FBLN1_ENST00000262722.7_Silent_p.G249G	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	249	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.G249G(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCAGCTGCGGGACTGGCTATG	0.582																																																	3	Substitution - coding silent(3)	kidney(3)											121.0	124.0	123.0					22																	45929741		2203	4300	6503	SO:0001819	synonymous_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.747G>A	22.37:g.45929741G>A			B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.582	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1		NM_006486	
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu	37	8	38275767	38275767	+	Missense_Mutation	SNP	C	C	G	rs121909637		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:38275767C>G	ENST00000447712.2	-	10	2350	c.1409G>C	c.(1408-1410)cGc>cCc	p.R470P	FGFR1_ENST00000335922.5_Missense_Mutation_p.R460P|FGFR1_ENST00000397091.5_Missense_Mutation_p.R468P|FGFR1_ENST00000397113.2_Missense_Mutation_p.R468P|FGFR1_ENST00000397103.1_Missense_Mutation_p.R381P|FGFR1_ENST00000532791.1_Missense_Mutation_p.R468P|FGFR1_ENST00000397108.4_Missense_Mutation_p.R468P|FGFR1_ENST00000425967.3_Missense_Mutation_p.R501P|FGFR1_ENST00000341462.5_Missense_Mutation_p.R470P|FGFR1_ENST00000326324.6_Missense_Mutation_p.R379P|FGFR1_ENST00000356207.5_Missense_Mutation_p.R381P	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	470			R -> L (in HH2; some patients also carry GNRHR mutations). {ECO:0000269|PubMed:19820032, ECO:0000269|PubMed:23643382}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R470P(3)|p.R460P(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGCTCCCAGCGAGGGTCTTC	0.517		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM070122	FGFR1	M	rs121909637						96.0	99.0	98.0					8																	38275767		1965	4151	6116	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1409G>C	8.37:g.38275767C>G	ENSP00000400162:p.Arg470Pro		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212800	0.79352	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.39	5.39	0.77823	Protein kinase-like domain (1);	0.090101	0.85682	D	0.000000	D	0.92996	0.7771	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.62365	0.973;0.973;0.984;0.973;0.991	P;P;B;P;P	0.51193	0.522;0.522;0.323;0.522;0.662	D	0.93570	0.6903	10	0.72032	D	0.01	.	19.4989	0.95085	0.0:1.0:0.0:0.0	.	379;379;470;460;468	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	P	468;501;470;470;470;468;468;381;460;379;381;468	ENSP00000380280:R468P;ENSP00000393312:R501P;ENSP00000400162:R470P;ENSP00000340636:R470P;ENSP00000432972:R468P;ENSP00000380302:R468P;ENSP00000348537:R381P;ENSP00000337247:R460P;ENSP00000327229:R379P;ENSP00000380292:R381P;ENSP00000380297:R468P	ENSP00000311337:R470P	R	-	2	0	FGFR1	38394924	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.666000	0.25097	2.678000	0.91216	0.655000	0.94253	CGC		0.517	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
FOLR4	390243	broad.mit.edu;ucsc.edu	37	11	94040428	94040428	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:94040428G>A	ENST00000440961.2	+	3	469	c.425G>A	c.(424-426)tGc>tAc	p.C142Y		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	149					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C143Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCTTACACATGCAAATCCAAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											97.0	105.0	102.0					11																	94040428		2198	4296	6494	SO:0001583	missense	390243					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.425G>A	11.37:g.94040428G>A	ENSP00000416935:p.Cys142Tyr			Missense_Mutation	SNP	ENST00000440961.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.225163|3.225163	0.58668|0.58668	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|T	.|0.79845	.|-1.31	4.43|4.43	2.48|2.48	0.30137|0.30137	.|.	.|0.100509	.|0.64402	.|D	.|0.000001	D|D	0.89326|0.89326	0.6683|0.6683	M|M	0.89287|0.89287	3.02|3.02	0.47511|0.47511	D|D	0.999444|0.999444	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88606|0.88606	0.3153|0.3153	5|10	.|0.87932	.|D	.|0	-16.4424|-16.4424	9.0613|9.0613	0.36436|0.36436	0.0:0.1612:0.6717:0.1671|0.0:0.1612:0.6717:0.1671	.|.	.|142	.|A6ND01-2	.|.	T|Y	143|142	.|ENSP00000416935:C142Y	.|ENSP00000416935:C142Y	A|C	+|+	1|2	0|0	FOLR4|FOLR4	93680076|93680076	1.000000|1.000000	0.71417|0.71417	0.039000|0.039000	0.18376|0.18376	0.094000|0.094000	0.18550|0.18550	8.792000|8.792000	0.91856|0.91856	0.577000|0.577000	0.29470|0.29470	0.491000|0.491000	0.48974|0.48974	GCA|TGC		0.617	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1		NM_001080486	
FOXD4L4	349334	hgsc.bcm.edu	37	9	70427685	70427685	+	Frame_Shift_Del	DEL	G	G	-	rs59364037		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:70427685delG	ENST00000377413.1	-	1	2046	c.1215delC	c.(1213-1215)tgcfs	p.C405fs		NM_199244.2	NP_954714.2	Q8WXT5	FX4L4_HUMAN	forkhead box D4-like 4	405					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)								GBM - Glioblastoma multiforme(29;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TGCCCGCCCAGCACCGCGCCC	0.677																																																	0																																										SO:0001589	frameshift_variant	349334				CCDS75845.1	9q13	2007-03-19			ENSG00000184659	ENSG00000184659			23762	protein-coding gene	gene with protein product		611085					Standard	NM_199244		Approved	bA460E7.2, OTTHUMG00000013337		Q8WXT5	OTTHUMG00000013337	ENST00000377413.1:c.1215delC	9.37:g.70427685delG	ENSP00000366630:p.Cys405fs		Q5RIB4	Frame_Shift_Del	DEL	ENST00000377413.1	37	CCDS6621.1																																																																																				0.677	FOXD4L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037143.2			
FUBP3	8939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133485350	133485350	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:133485350A>T	ENST00000319725.9	+	3	275	c.200A>T	c.(199-201)cAg>cTg	p.Q67L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	67					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q67L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GTAGGTAACCAGTTAGGGGCC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											173.0	168.0	170.0					9																	133485350		1838	4089	5927	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.200A>T	9.37:g.133485350A>T	ENSP00000318177:p.Gln67Leu		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360524	0.61403	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.48522	0.81	5.72	5.72	0.89469	.	0.179585	0.49916	D	0.000121	T	0.46444	0.1393	M	0.68593	2.085	0.49915	D	0.999834	B;P	0.50156	0.356;0.932	B;B	0.39503	0.122;0.301	T	0.49360	-0.8948	10	0.33940	T	0.23	-12.0429	15.194	0.73071	1.0:0.0:0.0:0.0	.	7;67	Q96I24-2;Q96I24	.;FUBP3_HUMAN	L	54;67;7	ENSP00000318177:Q67L	ENSP00000318177:Q67L	Q	+	2	0	FUBP3	132475171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.707000	0.91367	2.184000	0.69523	0.482000	0.46254	CAG		0.378	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10529342	10529342	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:10529342A>T	ENST00000379597.3	+	1	754	c.198A>T	c.(196-198)aaA>aaT	p.K66N	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.K66N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	66					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K66N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGCATTGAAAACTACCCTTG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											114.0	119.0	117.0					6																	10529342		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.198A>T	6.37:g.10529342A>T	ENSP00000368917:p.Lys66Asn			Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742371	0.49151	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.09817	2.94;2.94	5.43	0.335	0.15953	.	1.063150	0.07246	N	0.865141	T	0.03178	0.0093	L	0.44542	1.39	0.80722	D	1	B;B	0.30763	0.294;0.016	B;B	0.28916	0.096;0.028	T	0.47971	-0.9075	10	0.15066	T	0.55	-19.1112	9.0359	0.36287	0.7013:0.0:0.2987:0.0	.	66;65	Q8N0V5;Q08M29	GNT2A_HUMAN;.	N	66	ENSP00000419411:K66N;ENSP00000368917:K66N	ENSP00000368917:K66N	K	+	3	2	GCNT2	10637328	0.055000	0.20627	0.568000	0.28447	0.865000	0.49528	0.606000	0.24194	0.080000	0.16959	0.454000	0.30748	AAA		0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649	
GPATCH1	55094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33608751	33608751	+	Silent	SNP	C	C	T	rs370382787		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr19:33608751C>T	ENST00000170564.2	+	16	2531	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	739					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D739D(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AAGATGTGGACGCACAGGCTG	0.498																																					Pancreas(67;88 1713 4567 18227)												1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	93.0	89.0	90.0		2217	-3.4	0.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPATCH1	NM_018025.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		739/932	33608751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2217C>T	19.37:g.33608751C>T			Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																				0.498	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1		NM_018025	
GPR63	81491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97247000	97247000	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:97247000C>A	ENST00000229955.3	-	2	953	c.608G>T	c.(607-609)tGg>tTg	p.W203L	GPR63_ENST00000417980.1_Missense_Mutation_p.W203L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.W203L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGAAGTTGCCCAAGAAACTGC	0.463																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											79.0	76.0	77.0					6																	97247000		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.608G>T	6.37:g.97247000C>A	ENSP00000229955:p.Trp203Leu		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640952	0.67244	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	D;D;D	0.88741	-2.42;-2.42;-2.42	5.3	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	-1.9613	14.211	0.65764	0.0:0.9276:0.0:0.0724	.	203	Q9BZJ6	GPR63_HUMAN	L	227;203;203;203	ENSP00000393170:W203L;ENSP00000229955:W203L;ENSP00000358273:W203L	ENSP00000229955:W203L	W	-	2	0	GPR63	97353721	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.445000	0.80570	1.388000	0.46506	-0.142000	0.14014	TGG		0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			
GPRIN1	114787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176026768	176026768	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:176026768C>T	ENST00000303991.4	-	2	245	c.68G>A	c.(67-69)cGa>cAa	p.R23Q		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	23					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.R23Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGTGGGTCGGGGTCCTGG	0.642																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.68G>A	5.37:g.176026768C>T	ENSP00000305839:p.Arg23Gln		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.278984	0.00254	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10573	2.86	3.18	-2.39	0.06602	.	.	.	.	.	T	0.02533	0.0077	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42816	-0.9429	9	0.02654	T	1	.	7.4839	0.27421	0.0:0.3033:0.0:0.6967	.	23	Q7Z2K8	GRIN1_HUMAN	Q	23	ENSP00000305839:R23Q	ENSP00000305839:R23Q	R	-	2	0	GPRIN1	175959374	0.467000	0.25831	0.016000	0.15963	0.027000	0.11550	0.076000	0.14712	-0.792000	0.04480	-0.965000	0.02619	CGA		0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
HIPK3	10114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33363111	33363111	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:33363111A>G	ENST00000303296.4	+	8	2081	c.1776A>G	c.(1774-1776)gcA>gcG	p.A592A	HIPK3_ENST00000456517.1_Silent_p.A592A|HIPK3_ENST00000379016.3_Silent_p.A592A|HIPK3_ENST00000525975.1_Silent_p.A592A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	592					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A592A(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGTTTCAGGCATTGACCACAT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											236.0	210.0	219.0					11																	33363111		2202	4298	6500	SO:0001819	synonymous_variant	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1776A>G	11.37:g.33363111A>G			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.383	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734	
HIST1H3J	8356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27858524	27858524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:27858524G>A	ENST00000359303.2	-	1	46	c.47C>T	c.(46-48)gCa>gTa	p.A16V	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	16					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.A16V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTTCCGCGGTGCCTTGCCGCC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											27.0	31.0	30.0					6																	27858524		2202	4298	6500	SO:0001583	missense	8356			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.47C>T	6.37:g.27858524G>A	ENSP00000352252:p.Ala16Val		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529085	0.44969	.	.	ENSG00000197153	ENST00000359303	T	0.49432	0.78	4.06	4.06	0.47325	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	T	0.60520	-0.7247	6	0.62326	D	0.03	.	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	V	16	ENSP00000352252:A16V	ENSP00000352252:A16V	A	-	2	0	HIST1H3J	27966503	1.000000	0.71417	0.974000	0.42286	0.561000	0.35649	9.184000	0.94893	2.560000	0.86352	0.655000	0.94253	GCA		0.617	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2		NM_003535	
IRX1	79192	broad.mit.edu;hgsc.bcm.edu	37	5	3599934	3599934	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:3599934C>A	ENST00000302006.3	+	2	924	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	291					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P291Q(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCCCAGAGCCGGGCAGCACG	0.726																																																	1	Substitution - Missense(1)	kidney(1)											3.0	4.0	4.0					5																	3599934		1868	3723	5591	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.872C>A	5.37:g.3599934C>A	ENSP00000305244:p.Pro291Gln		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142558	0.06669	.	.	ENSG00000170549	ENST00000302006	T	0.59502	0.26	3.12	3.12	0.35913	.	0.725036	0.13959	N	0.350983	T	0.33818	0.0876	N	0.22421	0.69	0.29764	N	0.835331	P	0.43578	0.811	B	0.30716	0.119	T	0.14309	-1.0477	10	0.09590	T	0.72	.	12.4978	0.55937	0.0:1.0:0.0:0.0	.	291	P78414	IRX1_HUMAN	Q	291	ENSP00000305244:P291Q	ENSP00000305244:P291Q	P	+	2	0	IRX1	3652934	0.892000	0.30473	0.597000	0.28824	0.783000	0.44284	2.956000	0.49129	2.012000	0.59069	0.655000	0.94253	CCG		0.726	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1		NM_024337	
KCNC4	3749	broad.mit.edu;hgsc.bcm.edu	37	1	110766481	110766481	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:110766481C>T	ENST00000369787.3	+	2	1601	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.P525L|KCNC4_ENST00000413138.3_Missense_Mutation_p.P525L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	525					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P525L(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATACCAGCCCCCCTGCCCGG	0.607																																																	2	Substitution - Missense(2)	kidney(2)											50.0	57.0	55.0					1																	110766481		2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1574C>T	1.37:g.110766481C>T	ENSP00000358802:p.Pro525Leu		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726885	0.48833	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97209	-4.27;-4.29;-4.29	5.04	4.13	0.48395	.	4.638030	0.00397	N	0.000053	D	0.91085	0.7194	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27450	0.179;0.147;0.044	B;B;B	0.24848	0.039;0.056;0.03	T	0.65717	-0.6100	10	0.15066	T	0.55	.	14.9385	0.70975	0.1447:0.8553:0.0:0.0	.	525;525;525	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	L	525	ENSP00000358802:P525L;ENSP00000388029:P525L;ENSP00000393655:P525L	ENSP00000358802:P525L	P	+	2	0	KCNC4	110568004	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.096000	0.71446	1.268000	0.44264	-0.360000	0.07572	CCC		0.607	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574	
KCNJ12	3768	hgsc.bcm.edu	37	17	21318741	21318741	+	Silent	SNP	C	C	T	rs75113504	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:21318741C>T	ENST00000583088.1	+	3	982	c.87C>T	c.(85-87)aaC>aaT	p.N29N	KCNJ12_ENST00000331718.5_Silent_p.N29N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	29					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGGGCGCCAACGGCTTCGGCA	0.652										Prostate(3;0.18)																																							0								C		846,3560		0,846,1357	81.0	69.0	73.0		87	-6.0	0.9	17	dbSNP_131	73	1238,7362		0,1238,3062	no	coding-synonymous	KCNJ12	NM_021012.4		0,2084,4419	TT,TC,CC		14.3953,19.2011,16.0234		29/434	21318741	2084,10922	2203	4300	6503	SO:0001819	synonymous_variant	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.87C>T	17.37:g.21318741C>T			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.652	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
KIAA0895	23366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	36396886	36396886	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:36396886C>A	ENST00000297063.6	-	3	542	c.492G>T	c.(490-492)tgG>tgT	p.W164C	KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000317020.6_Missense_Mutation_p.W113C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.W151C|KIAA0895_ENST00000415803.2_Missense_Mutation_p.W151C|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.W113C|KIAA0895_ENST00000436884.1_Missense_Mutation_p.W13C	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	164								p.W151C(1)|p.W164C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGGCAGTACCAAGTACCAC	0.468																																																	2	Substitution - Missense(2)	kidney(2)											91.0	87.0	88.0					7																	36396886		1961	4147	6108	SO:0001583	missense	23366			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.492G>T	7.37:g.36396886C>A	ENSP00000297063:p.Trp164Cys		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616457	0.28801	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803	.	.	.	5.89	4.06	0.47325	.	0.733878	0.14446	N	0.319064	T	0.69611	0.3130	L	0.50333	1.59	0.54753	D	0.999984	D;D;B;D;D;B;D	0.89917	1.0;1.0;0.016;1.0;0.999;0.01;0.999	D;D;B;D;D;B;D	0.91635	0.999;0.931;0.01;0.987;0.921;0.015;0.912	T	0.66492	-0.5910	9	0.59425	D	0.04	-32.2909	11.2832	0.49208	0.1423:0.721:0.1367:0.0	.	113;113;13;151;164;151;113	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	C	164;151;113;113;13;151	.	ENSP00000297063:W164C	W	-	3	0	KIAA0895	36363411	0.971000	0.33674	0.990000	0.47175	0.734000	0.41952	1.460000	0.35244	0.794000	0.33899	0.563000	0.77884	TGG		0.468	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1		NM_015314	
KLRC3	3823	broad.mit.edu;hgsc.bcm.edu	37	12	10588502	10588502	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:10588502T>A	ENST00000539033.1	-	1	98	c.84A>T	c.(82-84)aaA>aaT	p.K28N	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.K28N|KLRC2_ENST00000381901.1_Missense_Mutation_p.K28N														p.K28N(1)									AAATGGAGCTTTTATTGCCTT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											226.0	235.0	232.0					12																	10588502		2203	4300	6503	SO:0001583	missense	3822																														ENST00000539033.1:c.84A>T	12.37:g.10588502T>A	ENSP00000437563:p.Lys28Asn			Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	T	13.33	2.205540	0.39003	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05319	3.46;3.46;3.46	2.57	-1.83	0.07833	.	1.157730	0.06304	N	0.701436	T	0.16981	0.0408	M	0.84219	2.685	0.09310	N	1	D;P;D	0.56287	0.957;0.731;0.975	P;B;P	0.58331	0.613;0.285;0.837	T	0.24657	-1.0154	10	0.72032	D	0.01	.	0.1853	0.00128	0.2305:0.1677:0.2602:0.3415	.	14;28;28	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	N	28	ENSP00000437563:K28N;ENSP00000371327:K28N;ENSP00000371326:K28N	ENSP00000371326:K28N	K	-	3	2	KLRC2;RP11-277P12.6	10479769	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.408000	0.07169	-0.206000	0.10203	0.155000	0.16302	AAA		0.413	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	TA	GG	rs1054158|rs1054157|rs71318762	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:22663086_22663087TA>GG	ENST00000426066.1	+	0	525_526					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCTT	0.302																																																	0																																												96610					22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046	Exception_encountered	22.37:g.22663086_22663087delinsGG				RNA	SNP	ENST00000426066.1	37																																																																																					0.302	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113616152	113616152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:113616152C>T	ENST00000361127.5	+	1	322	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	42	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L42F(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGAGCAGGTCTCTGCCCCGC	0.662											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											95.0	109.0	104.0					1																	113616152		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.124C>T	1.37:g.113616152C>T	ENSP00000355396:p.Leu42Phe	1451	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	6.363	0.435013	0.12045	.	.	ENSG00000198799	ENST00000361127	T	0.61859	0.07	4.93	4.01	0.46588	.	0.391386	0.23491	N	0.047602	T	0.29126	0.0724	L	0.36672	1.1	0.23762	N	0.996919	B	0.26512	0.151	B	0.31812	0.136	T	0.15122	-1.0448	10	0.30854	T	0.27	.	11.1526	0.48469	0.0:0.8141:0.1859:0.0	.	42	O94898	LRIG2_HUMAN	F	42	ENSP00000355396:L42F	ENSP00000355396:L42F	L	+	1	0	LRIG2	113417675	0.552000	0.26505	0.170000	0.22879	0.040000	0.13550	1.802000	0.38853	1.287000	0.44583	0.563000	0.77884	CTC		0.662	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141777522	141777522	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:141777522G>A	ENST00000389484.3	-	12	2910	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	647					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P647S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCCTCTGGGATGAGACATT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)											89.0	91.0	90.0					2																	141777522		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1939C>T	2.37:g.141777522G>A	ENSP00000374135:p.Pro647Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018364	0.93404	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99563	-6.17	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.99775	0.9907	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97214	0.9873	10	0.87932	D	0	.	19.3667	0.94466	0.0:0.0:1.0:0.0	.	647	Q9NZR2	LRP1B_HUMAN	S	647;585	ENSP00000374135:P647S	ENSP00000374135:P647S	P	-	1	0	LRP1B	141493992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.748000	0.98867	2.636000	0.89361	0.557000	0.71058	CCC		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9065878	9065878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr19:9065878T>C	ENST00000397910.4	-	3	21771	c.21568A>G	c.(21568-21570)Agc>Ggc	p.S7190G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7192	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7190G(2)|p.S2823G(1)		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						TGTCCAGAGCTGGGAATCTCC	0.498																																																	3	Substitution - Missense(3)	kidney(3)											208.0	196.0	200.0					19																	9065878		2107	4238	6345	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21568A>G	19.37:g.9065878T>C	ENSP00000381008:p.Ser7190Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.674	-0.066894	0.07273	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.45	0.261	0.15592	.	.	.	.	.	T	0.21347	0.0514	L	0.53249	1.67	.	.	.	B	0.02656	0.0	B	0.08055	0.003	T	0.21449	-1.0245	8	0.87932	D	0	.	4.6024	0.12359	0.0:0.3188:0.0:0.6812	.	7190	B5ME49	.	G	7190	ENSP00000381008:S7190G	ENSP00000381008:S7190G	S	-	1	0	MUC16	8926878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	-0.010000	0.14271	-1.382000	0.01172	AGC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NCKAP1L	3071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54893217	54893217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:54893217A>T	ENST00000293373.6	+	2	260	c.181A>T	c.(181-183)Aaa>Taa	p.K61*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.K11*|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	61					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.K61*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATCAACAAGAAATTTCCCAA	0.408																																																	1	Substitution - Nonsense(1)	kidney(1)											125.0	119.0	121.0					12																	54893217		2203	4300	6503	SO:0001587	stop_gained	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.181A>T	12.37:g.54893217A>T	ENSP00000293373:p.Lys61*		B4DUT5|Q52LW0	Nonsense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	36	5.870832	0.97049	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0521	13.2656	0.60131	1.0:0.0:0.0:0.0	.	.	.	.	X	61;11	.	ENSP00000293373:K61X	K	+	1	0	NCKAP1L	53179484	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.029000	0.88807	2.023000	0.59567	0.383000	0.25322	AAA		0.408	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337	
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu	37	12	104182685	104182685	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:104182685C>G	ENST00000392876.3	-	10	1072	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	344						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.K344N(1)|p.K269N(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTCATTCATCTTTCGGAAAG	0.403																																																	2	Substitution - Missense(2)	kidney(2)											221.0	211.0	214.0					12																	104182685		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1032G>C	12.37:g.104182685C>G	ENSP00000376615:p.Lys344Asn		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471642	0.26423	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.81	3.99	0.46301	HAD-like domain (1);	0.096661	0.64402	D	0.000002	T	0.26159	0.0638	L	0.55103	1.725	0.39531	D	0.968661	B	0.30851	0.297	B	0.35770	0.21	T	0.03922	-1.0992	10	0.15952	T	0.53	-42.1793	12.6673	0.56849	0.0:0.8659:0.0:0.1341	.	344	Q86UY8	NT5D3_HUMAN	N	344	ENSP00000376615:K344N	ENSP00000376615:K344N	K	-	3	2	NT5DC3	102706815	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.952000	0.29149	0.793000	0.33875	0.655000	0.94253	AAG		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575	
OR4N2	390429	hgsc.bcm.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																																	0																																										SO:0001589	frameshift_variant	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs		Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			
PHLDA1	22822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76424988	76424988	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:76424988C>T	ENST00000266671.5	-	1	2724	c.534G>A	c.(532-534)ggG>ggA	p.G178G	RP11-290L1.3_ENST00000552367.1_RNA|RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.G37G			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	178	PH.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G178G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TAAGCAGCAGCCCTTCCTCGG	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											24.0	21.0	22.0					12																	76424988		2202	4299	6501	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.534G>A	12.37:g.76424988C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	37	CCDS31861.1																																																																																				0.632	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2		NM_007350	
PLOD3	8985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100856398	100856398	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:100856398C>T	ENST00000223127.3	-	7	1165	c.767G>A	c.(766-768)gGt>gAt	p.G256D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	256					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.G256D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGTGGGACCGTTTCCATG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											78.0	66.0	70.0					7																	100856398		2203	4300	6503	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.767G>A	7.37:g.100856398C>T	ENSP00000223127:p.Gly256Asp		B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.374748|4.374748	0.82573|0.82573	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127;ENST00000541462|ENST00000421736	T|.	0.75477|.	-0.94|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.056341|.	0.64402|.	D|.	0.000001|.	T|T	0.79058|0.79058	0.4382|0.4382	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|T	0.82149|0.82149	-0.0600|-0.0600	10|5	0.87932|.	D|.	0|.	-3.5486|-3.5486	14.046|14.046	0.64706|0.64706	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256|.	O60568|.	PLOD3_HUMAN|.	D|I	256;160|89	ENSP00000223127:G256D|.	ENSP00000223127:G256D|.	G|V	-|-	2|1	0|0	PLOD3|PLOD3	100643118|100643118	1.000000|1.000000	0.71417|0.71417	0.838000|0.838000	0.33150|0.33150	0.643000|0.643000	0.38383|0.38383	7.390000|7.390000	0.79816|0.79816	2.461000|2.461000	0.83175|0.83175	0.462000|0.462000	0.41574|0.41574	GGT|GTC		0.602	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			
POC5	134359	broad.mit.edu	37	5	74981058	74981058	+	Missense_Mutation	SNP	C	C	A	rs372819160	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:74981058C>A	ENST00000428202.2	-	10	1570	c.1381G>T	c.(1381-1383)Gca>Tca	p.A461S	POC5_ENST00000446329.2_Missense_Mutation_p.A436S|POC5_ENST00000380475.2_Missense_Mutation_p.A344S|POC5_ENST00000514838.2_Missense_Mutation_p.A433S|POC5_ENST00000510798.1_Missense_Mutation_p.A344S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	461					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A461S(1)|p.A435S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAGTAGCTGCAGATCCTGCA	0.537																																																	2	Substitution - Missense(2)	kidney(2)											33.0	36.0	35.0					5																	74981058		2034	4175	6209	SO:0001583	missense	134359			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1381G>T	5.37:g.74981058C>A	ENSP00000410216:p.Ala461Ser		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	0.630	-0.817412	0.02776	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.42900	1.95;1.53;0.96;0.96;1.95	4.17	-1.09	0.09904	.	0.804842	0.11750	N	0.533133	T	0.25531	0.0621	L	0.39633	1.23	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.20273	-1.0280	10	0.27082	T	0.32	-0.3583	1.5627	0.02598	0.144:0.5603:0.1419:0.1538	.	344;461;436	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	S	461;433;344;344;436	ENSP00000410216:A461S;ENSP00000420971:A433S;ENSP00000369842:A344S;ENSP00000426796:A344S;ENSP00000399481:A436S	ENSP00000369842:A344S	A	-	1	0	POC5	75016814	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.859000	0.01657	-0.234000	0.09782	-0.264000	0.10439	GCA		0.537	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408	
PPAPDC1B	84513	broad.mit.edu	37	8	38125965	38125965	+	Silent	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:38125965G>C	ENST00000424479.2	-	3	218	c.198C>G	c.(196-198)ctC>ctG	p.L66L	PPAPDC1B_ENST00000529359.1_Silent_p.L25L|PPAPDC1B_ENST00000531823.1_5'UTR|PPAPDC1B_ENST00000422581.2_Silent_p.L66L|PPAPDC1B_ENST00000419686.2_Silent_p.L66L|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	66					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.L66L(1)		kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			ACAGTGGAGAGAGAAATGCAA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	40.0	39.0					8																	38125965		1928	4145	6073	SO:0001819	synonymous_variant	84513			AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.198C>G	8.37:g.38125965G>C			C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	37	CCDS47841.1	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044921	0.19748	.	.	ENSG00000147535	ENST00000534339	.	.	.	5.27	0.964	0.19655	.	.	.	.	.	T	0.61009	0.2313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57112	-0.7867	4	.	.	.	-16.7499	12.1426	0.54007	0.0:0.6438:0.2413:0.1149	.	.	.	.	C	60	.	.	S	-	2	0	PPAPDC1B	38245122	0.615000	0.27026	0.751000	0.31187	0.983000	0.72400	-0.305000	0.08188	0.165000	0.19558	0.467000	0.42956	TCT		0.493	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2		NM_032483	
PTAR1	375743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72338284	72338284	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:72338284A>T	ENST00000340434.4	-	6	908	c.905T>A	c.(904-906)cTt>cAt	p.L302H	PTAR1_ENST00000377200.5_Missense_Mutation_p.L223H	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	302					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.L302R(1)|p.L302H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GGAATCAATAAGATCAGTGCT	0.398																																																	2	Substitution - Missense(2)	breast(1)|kidney(1)											184.0	180.0	181.0					9																	72338284		1864	4107	5971	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.905T>A	9.37:g.72338284A>T	ENSP00000344299:p.Leu302His		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586661	0.86851	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.48201	0.82;0.82	5.99	5.99	0.97316	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69921	-0.5014	10	0.52906	T	0.07	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	302	Q7Z6K3	PTAR1_HUMAN	H	223;302	ENSP00000366405:L223H;ENSP00000344299:L302H	ENSP00000344299:L302H	L	-	2	0	PTAR1	71528104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.291000	0.77112	0.533000	0.62120	CTT		0.398	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4		NM_001099666	
RAPGEF5	9771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	22165225	22165225	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:22165225A>T	ENST00000401957.2	-	15	1871	c.1624T>A	c.(1624-1626)Ttt>Att	p.F542I	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.F692I			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	542	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.F406I(1)|p.F694I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACTCACCAAACTGGTTAGTC	0.438																																																	2	Substitution - Missense(2)	kidney(2)											147.0	140.0	142.0					7																	22165225		1965	4141	6106	SO:0001583	missense	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1624T>A	7.37:g.22165225A>T	ENSP00000384044:p.Phe542Ile		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37		.	.	.	.	.	.	.	.	.	.	A	19.10	3.760919	0.69763	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957	T;T	0.53640	1.12;0.61	6.07	6.07	0.98685	.	0.192469	0.56097	D	0.000026	T	0.40145	0.1105	L	0.42744	1.35	0.48901	D	0.999725	P	0.41546	0.754	B	0.32805	0.153	T	0.40194	-0.9576	10	0.56958	D	0.05	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	692	A8MQ07	.	I	692;544;406;542	ENSP00000343656:F692I;ENSP00000384044:F542I	ENSP00000258735:F406I	F	-	1	0	RAPGEF5	22131750	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.024000	0.49674	2.330000	0.79161	0.528000	0.53228	TTT		0.438	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2		NM_012294	
RASAL1	8437	broad.mit.edu	37	12	113565939	113565939	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:113565939T>A	ENST00000261729.5	-	4	482	c.167A>T	c.(166-168)gAg>gTg	p.E56V	RASAL1_ENST00000548055.1_Missense_Mutation_p.E56V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.E56V|RASAL1_ENST00000546530.1_Missense_Mutation_p.E56V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.E56V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CACCGTGTACTCCTCCCCCCA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											188.0	187.0	187.0					12																	113565939		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.167A>T	12.37:g.113565939T>A	ENSP00000261729:p.Glu56Val		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692780	0.88735	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	L	0.51914	1.62	0.47949	D	0.999551	D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.839;1.0;1.0	D;D;D;D;P;D;D	0.97110	1.0;1.0;0.999;1.0;0.761;0.999;0.999	T	0.81284	-0.1002	10	0.59425	D	0.04	.	13.8909	0.63738	0.0:0.0:0.0:1.0	.	56;56;56;68;56;56;56	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	V	56	ENSP00000450244:E56V;ENSP00000261729:E56V;ENSP00000395920:E56V;ENSP00000448510:E56V	ENSP00000261729:E56V	E	-	2	0	RASAL1	112050322	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.259000	0.78381	1.939000	0.56221	0.402000	0.26972	GAG		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2		NM_004658	
RBFOX1	54715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	7568250	7568250	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:7568250C>T	ENST00000550418.1	+	5	1117	c.129C>T	c.(127-129)gcC>gcT	p.A43A	RBFOX1_ENST00000535565.2_Silent_p.A79A|RBFOX1_ENST00000553186.1_Silent_p.A43A|RBFOX1_ENST00000547338.1_Silent_p.A43A|RBFOX1_ENST00000311745.5_Silent_p.A63A|RBFOX1_ENST00000547372.1_Silent_p.A86A|RBFOX1_ENST00000552089.1_Silent_p.A79A|RBFOX1_ENST00000340209.4_Silent_p.A48A|RBFOX1_ENST00000436368.2_Silent_p.A63A|RBFOX1_ENST00000355637.4_Silent_p.A63A|RBFOX1_ENST00000422070.4_Silent_p.A86A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	43					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A63A(2)|p.A43A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AATACACGGCCCCTCATCCCC	0.637																																					Ovarian(157;934 2567 15163 39509)												3	Substitution - coding silent(3)	kidney(3)											120.0	118.0	119.0					16																	7568250		2197	4300	6497	SO:0001819	synonymous_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.129C>T	16.37:g.7568250C>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2		NM_145891	
RELN	5649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103293158	103293158	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:103293158C>G	ENST00000428762.1	-	14	1762	c.1603G>C	c.(1603-1605)Gct>Cct	p.A535P	RELN_ENST00000343529.5_Missense_Mutation_p.A535P|RELN_ENST00000424685.2_Missense_Mutation_p.A535P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	535					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A535P(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTTGGTAGCAGGAGTCTGA	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	kidney(1)											123.0	125.0	124.0					7																	103293158		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1603G>C	7.37:g.103293158C>G	ENSP00000392423:p.Ala535Pro		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724582	0.89298	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.110769	0.64402	D	0.000007	T	0.37073	0.0990	N	0.24115	0.695	0.45806	D	0.998688	D;P	0.71674	0.998;0.94	P;P	0.62089	0.898;0.462	T	0.04593	-1.0940	10	0.41790	T	0.15	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	535;535	P78509-2;P78509	.;RELN_HUMAN	P	535	ENSP00000392423:A535P;ENSP00000345694:A535P;ENSP00000388446:A535P	ENSP00000345694:A535P	A	-	1	0	RELN	103080394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.686000	0.54685	2.836000	0.97738	0.655000	0.94253	GCT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045	
RGS3	5998	broad.mit.edu;hgsc.bcm.edu	37	9	116346645	116346645	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:116346645G>C	ENST00000374140.2	+	21	3162	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	RGS3_ENST00000343817.5_Missense_Mutation_p.E704Q|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.E985Q|RGS3_ENST00000462143.1_Missense_Mutation_p.E306Q|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.E306Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	985					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E881Q(1)|p.E985Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCAAGAAAGAGCTGGGCCG	0.612																																																	2	Substitution - Missense(2)	kidney(2)											28.0	31.0	30.0					9																	116346645		2185	4274	6459	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2953G>C	9.37:g.116346645G>C	ENSP00000363255:p.Glu985Gln		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916808	0.52546	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T	0.78595	0.79;0.79;0.3;0.22;0.22;-1.19	5.67	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.83261	0.5216	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.997;0.992;0.994;0.995;0.997	D;D;P;P;P;D	0.65140	0.91;0.932;0.856;0.901;0.856;0.917	D	0.84430	0.0576	10	0.72032	D	0.01	.	11.6451	0.51257	0.0825:0.0:0.9175:0.0	.	324;881;306;704;875;985	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	Q	985;985;704;153;306;306;151	ENSP00000363255:E985Q;ENSP00000259406:E985Q;ENSP00000340284:E704Q;ENSP00000420356:E306Q;ENSP00000363249:E306Q;ENSP00000417994:E151Q	ENSP00000340284:E704Q	E	+	1	0	RGS3	115386466	1.000000	0.71417	0.990000	0.47175	0.388000	0.30384	7.249000	0.78278	1.383000	0.46405	0.655000	0.94253	GAG		0.612	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3		NM_017790	
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu	37	8	10468848	10468848	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:10468848C>T	ENST00000382483.3	-	4	2983	c.2760G>A	c.(2758-2760)cgG>cgA	p.R920R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	920					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.R920R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGACAGCCCCCGAGACCCCG	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											18.0	23.0	22.0					8																	10468848		1951	4125	6076	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2760G>A	8.37:g.10468848C>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
SELP	6403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169565278	169565278	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:169565278A>G	ENST00000263686.6	-	12	2023	c.1986T>C	c.(1984-1986)ttT>ttC	p.F662F	SELP_ENST00000367788.2_Silent_p.F600F|SELP_ENST00000367786.2_Silent_p.F600F|SELP_ENST00000367791.2_Silent_p.F476F|SELP_ENST00000367792.2_Silent_p.F478F|SELP_ENST00000367793.2_Silent_p.F600F|SELP_ENST00000367794.2_Silent_p.F600F|SELP_ENST00000458599.2_Silent_p.F478F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	662	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.F662F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TATTAAAACCAAAGGTTCCCG	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											288.0	284.0	286.0					1																	169565278		2203	4300	6503	SO:0001819	synonymous_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1986T>C	1.37:g.169565278A>G			Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	3.318	-0.139335	0.06669	.	.	ENSG00000174175	ENST00000446728	.	.	.	4.22	0.283	0.15696	.	.	.	.	.	T	0.27349	0.0671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	-19.376	3.2034	0.06657	0.5343:0.2159:0.2498:0.0	.	.	.	.	R	478	.	.	W	-	1	0	SELP	167831902	0.905000	0.30787	0.992000	0.48379	0.406000	0.30931	0.380000	0.20602	0.264000	0.21851	-0.371000	0.07208	TGG		0.512	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4		NM_003005	
SF3B2	10992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65827424	65827424	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:65827424C>T	ENST00000322535.6	+	13	1622	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	SF3B2_ENST00000528302.1_Missense_Mutation_p.P508S	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	525					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P525S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTTCGAGCTGCCAGACTTCAT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											62.0	59.0	60.0					11																	65827424		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1573C>T	11.37:g.65827424C>T	ENSP00000318861:p.Pro525Ser		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782343	0.90282	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.06	0.68205	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89477	0.3747	9	0.87932	D	0	-7.6953	13.0805	0.59112	0.0:0.9226:0.0:0.0774	.	525	Q13435	SF3B2_HUMAN	S	508;525;429	.	ENSP00000318861:P525S	P	+	1	0	SF3B2	65584000	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.378000	0.79679	1.536000	0.49237	0.650000	0.86243	CCA		0.617	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			
SCAF4	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33074643	33074643	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr21:33074643T>C	ENST00000286835.7	-	5	753	c.371A>G	c.(370-372)aAa>aGa	p.K124R	SCAF4_ENST00000434667.3_Missense_Mutation_p.K109R|SCAF4_ENST00000399804.1_Missense_Mutation_p.K124R	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	124	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K124R(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTTCAATTTTGAACACTCC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											112.0	101.0	105.0					21																	33074643		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.371A>G	21.37:g.33074643T>C	ENSP00000286835:p.Lys124Arg		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889013	0.72524	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42131	0.98;0.98;0.98	5.69	5.69	0.88448	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.050052	0.85682	D	0.000000	T	0.58807	0.2148	L	0.59436	1.845	0.58432	D	0.999991	D;D;D;D	0.57899	0.981;0.981;0.976;0.981	D;P;P;D	0.64237	0.923;0.846;0.875;0.923	T	0.56312	-0.8000	10	0.37606	T	0.19	-22.033	15.9434	0.79776	0.0:0.0:0.0:1.0	.	109;124;124;124	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	R	109;124;124	ENSP00000402377:K109R;ENSP00000286835:K124R;ENSP00000382703:K124R	ENSP00000286835:K124R	K	-	2	0	SCAF4	31996514	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.180000	0.71981	2.168000	0.68352	0.397000	0.26171	AAA		0.363	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889	
SLC5A1	6523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32482294	32482294	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:32482294T>C	ENST00000266088.4	+	10	1359	c.1109T>C	c.(1108-1110)gTg>gCg	p.V370A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.V243A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	370					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.V370A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CCAACCTTAGTGGTGGAGCTC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											169.0	143.0	152.0					22																	32482294		2203	4300	6503	SO:0001583	missense	6523				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1109T>C	22.37:g.32482294T>C	ENSP00000266088:p.Val370Ala		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	32	5.157402	0.94686	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88124	-2.34;-2.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.89968	3.075	0.80722	D	1	P	0.35894	0.526	P	0.54544	0.755	D	0.94746	0.7923	10	0.87932	D	0	.	14.7648	0.69632	0.0:0.0:0.0:1.0	.	370	P13866	SC5A1_HUMAN	A	370;243	ENSP00000266088:V370A;ENSP00000444898:V243A	ENSP00000266088:V370A	V	+	2	0	SLC5A1	30812294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.851000	0.86920	2.145000	0.66743	0.477000	0.44152	GTG		0.478	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3		NM_000343	
SLX4	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3640657	3640657	+	Silent	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:3640657G>T	ENST00000294008.3	-	12	3622	c.2982C>A	c.(2980-2982)atC>atA	p.I994I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	994	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.I994I(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACGGCTCTGAGATCTCTCCCT	0.562								Direct reversal of damage																																									1	Substitution - coding silent(1)	kidney(1)											78.0	78.0	78.0					16																	3640657		2197	4300	6497	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2982C>A	16.37:g.3640657G>T			Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444	
SORCS2	57537	broad.mit.edu;hgsc.bcm.edu|broad.mit.edu	37	4	7533341	7533342	+	Missense_Mutation	DNP	GA	GA	TT	rs372434484		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:7533341_7533342GA>TT	ENST00000507866.2	+	3	742_743	c.633_634GA>TT	c.(631-636)ccGAcc>ccTTcc	p.T212S	SORCS2_ENST00000329016.9_Missense_Mutation_p.T40S|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	212					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T62S(1)|p.P61P(1)|p.P61>?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACATCTGCCCGACCAACAAGAG	0.609																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	Exception_encountered	4.37:g.7533341_7533342delinsTT	ENSP00000422185:p.Thr212Ser		Q9P2L7	Silent|Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.609	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4		NM_020777	
SPEF1	25876	broad.mit.edu;hgsc.bcm.edu	37	20	3759097	3759097	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr20:3759097C>T	ENST00000379756.3	-	6	734	c.574G>A	c.(574-576)Gag>Aag	p.E192K	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	192						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.E192K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GCCAACAGCTCCTGCTCCTTT	0.701																																																	1	Substitution - Missense(1)	kidney(1)											32.0	34.0	34.0					20																	3759097		1940	4137	6077	SO:0001583	missense	25876			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.574G>A	20.37:g.3759097C>T	ENSP00000369080:p.Glu192Lys		A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239642	0.79800	.	.	ENSG00000101222	ENST00000379756	.	.	.	4.96	4.96	0.65561	.	0.095438	0.41097	D	0.000959	T	0.47710	0.1460	L	0.38175	1.15	0.39804	D	0.972615	D	0.55172	0.97	P	0.49332	0.607	T	0.40701	-0.9549	9	0.06494	T	0.89	-34.6275	16.0861	0.81049	0.0:1.0:0.0:0.0	.	192	Q9Y4P9	SPEF1_HUMAN	K	192	.	ENSP00000369080:E192K	E	-	1	0	SPEF1	3707097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.473000	0.53122	2.476000	0.83614	0.551000	0.68910	GAG		0.701	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2			
ST7	7982	broad.mit.edu	37	7	116870009	116870009	+	3'UTR	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:116870009G>A	ENST00000393446.2	+	0	1973				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393451.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTGAAAAAGGGAAGCCATTCC	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*98G>A	7.37:g.116870009G>A			A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37																																																																																					0.433	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908	
SUZ12	23512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30302576	30302576	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:30302576A>T	ENST00000322652.5	+	7	896	c.667A>T	c.(667-669)Aaa>Taa	p.K223*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.K200*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	223					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K223*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAATCAAACAAAACCCGGAAA	0.403			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Nonsense(1)	kidney(1)											51.0	53.0	52.0					17																	30302576		2203	4300	6503	SO:0001587	stop_gained	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.667A>T	17.37:g.30302576A>T	ENSP00000316578:p.Lys223*		Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	A	38	6.895112	0.97916	.	.	ENSG00000178691	ENST00000322652	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8879	15.1104	0.72351	1.0:0.0:0.0:0.0	.	.	.	.	X	223	.	ENSP00000316578:K223X	K	+	1	0	SUZ12	27326689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.561000	0.82288	1.953000	0.56701	0.421000	0.28195	AAA		0.403	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355	
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	22	42605745	42605746	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:42605745_42605746TC>AA	ENST00000359486.3	-	1	5702_5703	c.5566_5567GA>TT	c.(5566-5568)GAg>TTg	p.E1856L	TCF20_ENST00000335626.4_Missense_Mutation_p.E1856L|TCF20_ENST00000404876.1_Missense_Mutation_p.E157L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1856V(1)|p.E1856*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATACAACCCTCATGGACCCAA	0.525																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)																																								SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5566_5567delinsAA	22.37:g.42605745_42605746delinsAA	ENSP00000352463:p.Glu1856Leu		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.525	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492	
TNRC6A	27327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24788568	24788568	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:24788568G>A	ENST00000395799.3	+	5	607	c.478G>A	c.(478-480)Gca>Aca	p.A160T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A160T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	160	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A160T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTTATAGCAGCAAACCTTGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											148.0	160.0	156.0					16																	24788568		2149	4279	6428	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.478G>A	16.37:g.24788568G>A	ENSP00000379144:p.Ala160Thr		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750390	0.69533	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12255	2.7;2.7	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.15565	0.0375	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.02009	-1.1230	10	0.25751	T	0.34	-9.4981	20.3495	0.98807	0.0:0.0:1.0:0.0	.	160	Q8NDV7	TNR6A_HUMAN	T	160	ENSP00000326900:A160T;ENSP00000379144:A160T	ENSP00000326900:A160T	A	+	1	0	TNRC6A	24696069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.814000	0.96858	0.591000	0.81541	GCA		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7579396	7579396	+	Silent	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:7579396G>A	ENST00000269305.4	-	4	480	c.291C>T	c.(289-291)gtC>gtT	p.V97V	TP53_ENST00000455263.2_Silent_p.V97V|TP53_ENST00000359597.4_Silent_p.V97V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Silent_p.V97V|TP53_ENST00000420246.2_Silent_p.V97V|TP53_ENST00000413465.2_Silent_p.V97V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	97	Interaction with WWOX.		V -> A (in a sporadic cancer; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> I (in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S99fs*48(3)|p.V97V(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.P98fs*26(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGGGAAGGGACAGAAGATG	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	25	Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(3)|Insertion - Frameshift(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|kidney(3)|ovary(3)|lung(2)|pancreas(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|liver(1)											49.0	52.0	51.0					17																	7579396		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.291C>T	17.37:g.7579396G>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546	
TRIM23	373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64892965	64892965	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:64892965C>T	ENST00000231524.9	-	8	1593	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	TRIM23_ENST00000274327.7_Missense_Mutation_p.V408I|TRIM23_ENST00000381018.3_Missense_Mutation_p.V408I	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	408	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V408I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCTAACGTAACGACCCGAATT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											119.0	113.0	115.0					5																	64892965		2203	4300	6503	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1222G>A	5.37:g.64892965C>T	ENSP00000231524:p.Val408Ile		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483114	0.84747	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.63744	-0.06;-0.06;-0.06	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	L	0.28608	0.87	0.80722	D	1	D;D;D	0.61697	0.975;0.99;0.989	P;P;P	0.54100	0.742;0.525;0.674	T	0.67469	-0.5663	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	408;408;408	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	I	408	ENSP00000231524:V408I;ENSP00000370406:V408I;ENSP00000274327:V408I	ENSP00000231524:V408I	V	-	1	0	TRIM23	64928721	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.920000	0.70017	2.833000	0.97629	0.585000	0.79938	GTT		0.323	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2		NM_001656	
TSPAN6	7105	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu	37	X	99890219	99890220	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chrX:99890219_99890220CC>AA	ENST00000373020.4	-	3	417_418	c.306_307GG>TT	c.(304-309)ttGGtc>ttTTtc	p.102_103LV>FF	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	102					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.L102>?(1)|p.L102F(1)|p.V103F(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ACCAGTTCGACCAAAAAAACGA	0.391																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	7105			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.306_307delinsAA	X.37:g.99890219_99890220delinsAA	ENSP00000362111:p.L102_V103delinsFF		Q54A42|Q6IAN9	Missense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.391	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179474417	179474417	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:179474417G>T	ENST00000591111.1	-	222	47034	c.46810C>A	c.(46810-46812)Ccc>Acc	p.P15604T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8180T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P17245T|TTN_ENST00000342992.6_Missense_Mutation_p.P14677T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8372T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8305T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15604	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.P14677T(2)|p.P8305T(1)|p.P8180T(1)|p.P8372T(1)		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)			TTACCAATGGGATCTACAGCT	0.403																																																	5	Substitution - Missense(5)	kidney(5)											138.0	131.0	133.0					2																	179474417		1843	4092	5935	SO:0001583	missense	7273			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.46810C>A	2.37:g.179474417G>T	ENSP00000465570:p.Pro15604Thr		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		.	.	.	.	.	.	.	.	.	.	G	12.24	1.878716	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;0.15;0.04;0.02	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62036	0.2395	L	0.53617	1.68	0.58432	D	0.999995	B;B;B;B	0.25719	0.132;0.132;0.132;0.132	B;B;B;B	0.20767	0.017;0.017;0.031;0.031	T	0.60271	-0.7296	9	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	8180;8305;8372;15604	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14677;8180;8372;8305;8180	ENSP00000343764:P14677T;ENSP00000434586:P8180T;ENSP00000340554:P8372T;ENSP00000352154:P8305T	ENSP00000340554:P8372T	P	-	1	0	TTN	179182662	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.263000	0.58853	2.753000	0.94483	0.655000	0.94253	CCC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUB	7275	hgsc.bcm.edu	37	11	8111676	8111676	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:8111676A>T	ENST00000299506.2	+	3	300	c.151A>T	c.(151-153)Aat>Tat	p.N51Y	TUB_ENST00000305253.4_Missense_Mutation_p.N106Y|TUB_ENST00000534099.1_Missense_Mutation_p.N57Y	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	51					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGTGCAGGCCAATGCAGATgg	0.667																																																	0													25.0	30.0	28.0					11																	8111676		2199	4296	6495	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.151A>T	11.37:g.8111676A>T	ENSP00000299506:p.Asn51Tyr		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853450	0.91355	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.90261	-2.46;-2.64;-2.45	5.41	5.41	0.78517	Tubby, N-terminal (1);	0.279309	0.40818	N	0.001010	D	0.93051	0.7788	L	0.50333	1.59	0.58432	D	0.999993	D;D;D	0.69078	0.984;0.984;0.997	P;P;D	0.65010	0.77;0.77;0.931	D	0.93777	0.7080	10	0.87932	D	0	-13.4311	14.4163	0.67153	1.0:0.0:0.0:0.0	.	57;51;106	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	Y	57;106;51	ENSP00000434400:N57Y;ENSP00000305426:N106Y;ENSP00000299506:N51Y	ENSP00000299506:N51Y	N	+	1	0	TUB	8068252	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	8.659000	0.91116	2.042000	0.60477	0.533000	0.62120	AAT		0.667	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1		NM_003320	
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128927880	128927880	+	Silent	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:128927880G>T	ENST00000259253.6	+	27	2987	c.2940G>T	c.(2938-2940)ccG>ccT	p.P980P	UGGT1_ENST00000375990.3_Silent_p.P956P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	980					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.P980P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACTGAGGCCGAAGGAAGGGG	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	114.0	123.0					2																	128927880		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2940G>T	2.37:g.128927880G>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																				0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120	
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu	37	4	69795773	69795773	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:69795773G>C	ENST00000251566.4	-	6	1372	c.1342C>G	c.(1342-1344)Cat>Gat	p.H448D	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H159D	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	448					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H448D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTGATCATGGTGAATTCTT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											90.0	94.0	93.0					4																	69795773		2203	4300	6503	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1342C>G	4.37:g.69795773G>C	ENSP00000251566:p.His448Asp		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256234	0.39896	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61274	0.12;0.12	2.22	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.93678	3.445	0.29490	N	0.855682	D	0.89917	1.0	D	0.75484	0.986	T	0.74711	-0.3573	10	0.87932	D	0	.	10.0537	0.42233	0.0:0.0:1.0:0.0	.	448	Q6UWM9	UD2A3_HUMAN	D	448;159	ENSP00000251566:H448D;ENSP00000440115:H159D	ENSP00000251566:H448D	H	-	1	0	UGT2A3	69830362	0.986000	0.35501	0.772000	0.31596	0.714000	0.41099	3.328000	0.52052	1.248000	0.43934	0.491000	0.48974	CAT		0.423	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743	
WNK3	65267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54321069	54321069	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chrX:54321069T>C	ENST00000375159.2	-	7	1609	c.1610A>G	c.(1609-1611)gAa>gGa	p.E537G	WNK3_ENST00000375169.3_Missense_Mutation_p.E537G|WNK3_ENST00000354646.2_Missense_Mutation_p.E537G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	537					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E537G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACATTCAGCCCCAGT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											77.0	61.0	67.0					X																	54321069		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1610A>G	X.37:g.54321069T>C	ENSP00000364301:p.Glu537Gly		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543442	0.65198	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.76186	-0.96;-1.0;-1.0	5.04	5.04	0.67666	.	0.000000	0.52532	D	0.000063	T	0.77805	0.4185	L	0.34521	1.04	0.35045	D	0.760122	D;P	0.63046	0.992;0.671	D;P	0.64144	0.922;0.542	D	0.84611	0.0678	10	0.72032	D	0.01	-15.3997	12.8096	0.57631	0.0:0.0:0.0:1.0	.	537;537	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	G	537	ENSP00000364312:E537G;ENSP00000346667:E537G;ENSP00000364301:E537G	ENSP00000346667:E537G	E	-	2	0	WNK3	54337794	1.000000	0.71417	0.977000	0.42913	0.800000	0.45204	3.764000	0.55264	1.662000	0.50781	0.481000	0.45027	GAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922	
ZC3H6	376940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113074843	113074843	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:113074843A>C	ENST00000409871.1	+	7	1311	c.910A>C	c.(910-912)Aaa>Caa	p.K304Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K304Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	304							metal ion binding (GO:0046872)	p.K304Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAGAAAAGAAAAGAGATCTG	0.259																																																	1	Substitution - Missense(1)	kidney(1)											37.0	37.0	37.0					2																	113074843		1788	4058	5846	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.910A>C	2.37:g.113074843A>C	ENSP00000386764:p.Lys304Gln		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616694	0.87359	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.35973	1.28;1.28	5.44	5.44	0.79542	Zinc finger, CCCH-type (2);	0.095158	0.64402	D	0.000001	T	0.50888	0.1642	L	0.38692	1.165	0.53005	D	0.999963	D	0.89917	1.0	D	0.79784	0.993	T	0.52638	-0.8549	10	0.66056	D	0.02	-24.9442	15.7828	0.78275	1.0:0.0:0.0:0.0	.	304	P61129	ZC3H6_HUMAN	Q	304;304;281	ENSP00000386764:K304Q;ENSP00000340298:K304Q	ENSP00000340298:K304Q	K	+	1	0	ZC3H6	112791314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.202000	0.70862	0.477000	0.44152	AAA		0.259	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1		NM_198581	
ZNF165	7718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28053590	28053590	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:28053590A>T	ENST00000377325.1	+	2	888	c.332A>T	c.(331-333)gAa>gTa	p.E111V		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	111	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)	p.E111V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGTACATGAACATTACCCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											65.0	66.0	66.0					6																	28053590		2203	4300	6503	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.332A>T	6.37:g.28053590A>T	ENSP00000366542:p.Glu111Val			Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503224	0.26949	.	.	ENSG00000197279	ENST00000377325	T	0.05139	3.49	3.06	1.88	0.25563	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.08626	0.0214	H	0.95151	3.63	0.09310	N	1	P	0.38711	0.643	B	0.42386	0.386	T	0.10543	-1.0625	9	0.72032	D	0.01	.	6.452	0.21908	0.8774:0.0:0.1226:0.0	.	111	P49910	ZN165_HUMAN	V	111	ENSP00000366542:E111V	ENSP00000366542:E111V	E	+	2	0	ZNF165	28161569	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	0.166000	0.16583	0.567000	0.29293	0.533000	0.62120	GAA		0.522	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1		NM_003447	
