#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
PALM	5064	genome.wustl.edu	37	19	746627	746627	+	Missense_Mutation	SNP	C	C	T	rs370222652		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:746627C>T	ENST00000338448.5	+	9	1023	c.977C>T	c.(976-978)gCg>gTg	p.A326V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.A282V	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	326					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACCATCACGGCGGAGCTGGTG	0.637																																																0			19						C	VAL/ALA,VAL/ALA	0,4402		0,0,2201	38.0	31.0	33.0		845,977	4.2	0.9	19		33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PALM	NM_001040134.1,NM_002579.2	64,64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	282/344,326/388	746627	1,13001	2201	4300	6501	697627	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.977C>T	19.37:g.746627C>T	ENSP00000341911:p.Ala326Val		697627	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	HMMPfam_Paralemmin	p.A326V	ENST00000338448.5	37	c.977	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661331	0.88154	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.32988	1.43;1.43	4.19	4.19	0.49359	.	0.109676	0.64402	D	0.000009	T	0.58892	0.2154	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67345	-0.5694	10	0.87932	D	0	-26.7302	15.6583	0.77162	0.0:1.0:0.0:0.0	.	282;326	O75781-2;O75781	.;PALM_HUMAN	V	326;282;191	ENSP00000341911:A326V;ENSP00000264560:A282V	ENSP00000264560:A282V	A	+	2	0	PALM	697627	1.000000	0.71417	0.908000	0.35775	0.607000	0.37147	7.209000	0.77916	2.154000	0.67381	0.462000	0.41574	GCG	-	HMMPfam_Paralemmin		0.637	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	protein_coding	OTTHUMT00000457592.1	C	NM_002579		697627	+1	no_errors	NM_002579	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
CORO7	79585	genome.wustl.edu	37	16	4463379	4463379	+	Silent	SNP	T	T	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr16:4463379T>A	ENST00000251166.4	-	2	232	c.87A>T	c.(85-87)ggA>ggT	p.G29G	CORO7-PAM16_ENST00000572467.1_Silent_p.G29G|CORO7_ENST00000537233.2_Silent_p.G29G|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Silent_p.G29G|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000577144.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	29					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AAGGGGCGGTTCCTGCTCGAA	0.507																																																0			16											94.0	81.0	85.0					16																	4463379		2195	4298	6493	4403380	SO:0001819	synonymous_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.87A>T	16.37:g.4463379T>A			4403380	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_DUF1900,PatternScan_WD_REPEATS_1	p.G29	ENST00000251166.4	37	c.87	CCDS10513.1	16																																																																																			-	NULL		0.507	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	protein_coding	OTTHUMT00000251628.2	T	NM_024535		4403380	-1	no_errors	NM_024535	genbank	human	validated	54_36p	silent	SNP	0.263	A
CHD4	1108	genome.wustl.edu	37	12	6701583	6701583	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:6701583C>T	ENST00000357008.2	-	19	3087	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	CHD4_ENST00000544040.1_Missense_Mutation_p.R968H|CHD4_ENST00000544484.1_Missense_Mutation_p.R972H|CHD4_ENST00000309577.6_Missense_Mutation_p.R975H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	975					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R975H(10)		central_nervous_system(2)	2						CAGCTCCACACGCACAATTAG	0.517																																					Colon(32;586 792 4568 16848 45314)											10	Substitution - Missense(10)	endometrium(8)|large_intestine(2)	12											88.0	82.0	84.0					12																	6701583		2203	4300	6503	6571844	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2924G>A	12.37:g.6701583C>T	ENSP00000349508:p.Arg975His		6571844	Q8IXZ5	Missense_Mutation	SNP	HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,PatternScan_CHROMO_1,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.R975H	ENST00000357008.2	37	c.2924	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.253892	0.95336	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.994	D	0.83812	0.0242	10	0.87932	D	0	.	19.1812	0.93623	0.0:1.0:0.0:0.0	.	975;975;968	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	972;968;975;975;949	ENSP00000440392:R972H;ENSP00000440542:R968H;ENSP00000312419:R975H;ENSP00000349508:R975H	ENSP00000312419:R975H	R	-	2	0	CHD4	6571844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.743000	0.85020	2.530000	0.85305	0.563000	0.77884	CGT	-	HMMPfam_SNF2_N		0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	protein_coding		C	NM_001273		6571844	-1	no_errors	NM_001273	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
COL28A1	340267	genome.wustl.edu	37	7	7480485	7480485	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:7480485T>G	ENST00000399429.3	-	21	1798	c.1658A>C	c.(1657-1659)gAa>gCa	p.E553A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	553	Collagen-like 5.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTCTTGCCTTCGTCACCCTA	0.448																																																0			7											142.0	134.0	137.0					7																	7480485		1844	4092	5936	7447010	SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1658A>C	7.37:g.7480485T>G	ENSP00000382356:p.Glu553Ala		7447010	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Collagen,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.E553A	ENST00000399429.3	37	c.1658	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240565	0.39598	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.92805	-3.11	4.09	1.6	0.23607	.	0.301944	0.27424	U	0.019429	D	0.85314	0.5668	N	0.03029	-0.43	0.28539	N	0.912207	B;D;B	0.57257	0.04;0.979;0.01	B;D;B	0.71414	0.011;0.973;0.013	T	0.78127	-0.2325	10	0.06625	T	0.88	-13.7964	8.3101	0.32066	0.0:0.0:0.3982:0.6018	.	553;553;553	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	A	553	ENSP00000382356:E553A	ENSP00000382347:E553A	E	-	2	0	COL28A1	7447010	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	0.875000	0.28079	0.343000	0.23821	0.455000	0.32223	GAA	-	HMMPfam_Collagen		0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	protein_coding	OTTHUMT00000315899.1	T	NM_001037763		7447010	-1	no_errors	NM_001037763	genbank	human	validated	54_36p	missense	SNP	0.980	G
TP53	7157	genome.wustl.edu	37	17	7577571	7577571	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr17:7577571A>T	ENST00000269305.4	-	7	899	c.710T>A	c.(709-711)aTg>aAg	p.M237K	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.M237K|TP53_ENST00000445888.2_Missense_Mutation_p.M237K|TP53_ENST00000413465.2_Missense_Mutation_p.M237K|TP53_ENST00000455263.2_Missense_Mutation_p.M237K|TP53_ENST00000359597.4_Missense_Mutation_p.M237K	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; 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.M237K(11)|p.0?(8)|p.?(5)|p.M237_N239delMCN(4)|p.M237R(3)|p.M237T(2)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144K(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233_C242del10(1)|p.M237fs*1(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)	ACTGTTACACATGTAGTTGTA	0.572		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"""	43	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	ovary(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|endometrium(4)|bone(4)|upper_aerodigestive_tract(3)|lung(3)|breast(3)|central_nervous_system(2)|pancreas(2)|stomach(1)|urinary_tract(1)|prostate(1)	17											130.0	102.0	111.0					17																	7577571		2203	4300	6503	7518296	SO:0001583	missense	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.710T>A	17.37:g.7577571A>T	ENSP00000269305:p.Met237Lys		7518296	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	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.M237K	ENST00000269305.4	37	c.710	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483121	0.84747	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.91300	3.195	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.927;1.0;1.0;0.998;1.0	D;P;D;D;D;D	0.97110	0.999;0.754;1.0;1.0;0.999;1.0	D	0.96819	0.9602	10	0.87932	D	0	-32.6033	11.6823	0.51466	1.0:0.0:0.0:0.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	K	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237K;ENSP00000352610:M237K;ENSP00000269305:M237K;ENSP00000398846:M237K;ENSP00000391127:M237K;ENSP00000391478:M237K;ENSP00000425104:M105K;ENSP00000423862:M144K	ENSP00000269305:M237K	M	-	2	0	TP53	7518296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	ATG	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518296	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CLCN6	1185	genome.wustl.edu	37	1	11897090	11897090	+	Missense_Mutation	SNP	G	G	A	rs143362803		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:11897090G>A	ENST00000346436.6	+	19	2067	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	CLCN6_ENST00000376496.3_Missense_Mutation_p.R672H|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.R650H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	672					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGAGCAGCGCAAACGGAGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18851	0.0		0.0	False		,,,				2504	0.0															0			1						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	65.0	62.0	63.0		2015	5.7	1.0	1	dbSNP_134	63	0,8600		0,0,4300	no	missense	CLCN6	NM_001286.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	672/870	11897090	2,13004	2203	4300	6503	11819677	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2015G>A	1.37:g.11897090G>A	ENSP00000234488:p.Arg672His		11819677	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116	p.R672H	ENST00000346436.6	37	c.2015	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.464041	0.96257	4.54E-4	0.0	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91792	-2.89;-2.88;-2.91	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.57960	0.83;0.68	D	0.92739	0.6206	10	0.44086	T	0.13	-27.7268	18.8259	0.92119	0.0:0.0:1.0:0.0	.	650;672	F8W9R3;P51797	.;CLCN6_HUMAN	H	672;650;672	ENSP00000234488:R672H;ENSP00000365670:R650H;ENSP00000365679:R672H	ENSP00000234488:R672H	R	+	2	0	CLCN6	11819677	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	8.902000	0.92568	2.711000	0.92665	0.561000	0.74099	CGC	-	HMMPfam_CBS		0.597	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11819677	+1	no_errors	NM_001286	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DSTN	11034	genome.wustl.edu	37	20	17581545	17581545	+	Silent	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr20:17581545T>C	ENST00000246069.7	+	2	512	c.166T>C	c.(166-168)Ttg>Ctg	p.L56L	DSTN_ENST00000474024.1_Silent_p.L39L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	56	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CAAAGAGATCTTGGTTGGAGA	0.393																																																0			20											138.0	129.0	132.0					20																	17581545		2203	4300	6503	17529545	SO:0001819	synonymous_variant	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.166T>C	20.37:g.17581545T>C			17529545	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	superfamily_Actin depolymerizing proteins,HMMSmart_SM00102,HMMPfam_Cofilin_ADF	p.L56	ENST00000246069.7	37	c.166	CCDS13127.1	20																																																																																			-	superfamily_Actin depolymerizing proteins,HMMSmart_SM00102,HMMPfam_Cofilin_ADF		0.393	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTN	protein_coding	OTTHUMT00000078131.6	T	NM_001011546		17529545	+1	no_errors	NM_006870	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
IGSF22	283284	genome.wustl.edu	37	11	18738373	18738373	+	Missense_Mutation	SNP	G	G	A	rs200509378		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:18738373G>A	ENST00000513874.1	-	10	1287	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	383								p.T383M(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AAGCGTGTGCGTCAGACCATC	0.527																																																2	Substitution - Missense(2)	kidney(2)	11						G	MET/THR	0,4134		0,0,2067	231.0	225.0	227.0		1148	4.2	0.8	11		227	6,8384		1,4,4190	yes	missense	IGSF22	NM_173588.3	81	1,4,6257	AA,AG,GG		0.0715,0.0,0.0479	probably-damaging	383/1327	18738373	6,12518	2067	4195	6262	18694949	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1148C>T	11.37:g.18738373G>A	ENSP00000421191:p.Thr383Met		18694949	A6NNA0|D6RGV7	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.T383M	ENST00000513874.1	37	c.1148	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533924	0.64972	0.0	7.15E-4	ENSG00000179057	ENST00000513874	T	0.68624	-0.34	5.09	4.18	0.49190	.	0.491987	0.14951	U	0.288897	T	0.78310	0.4263	M	0.72894	2.215	0.25701	N	0.985584	D	0.76494	0.999	D	0.65773	0.938	T	0.67983	-0.5529	10	0.48119	T	0.1	.	11.4966	0.50413	0.0834:0.0:0.9166:0.0	.	383	D6RGV7	.	M	383	ENSP00000421191:T383M	ENSP00000322422:T383M	T	-	2	0	IGSF22	18694949	1.000000	0.71417	0.765000	0.31456	0.847000	0.48162	2.672000	0.46850	1.129000	0.42072	0.655000	0.94253	ACG	-	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18694949	-1	no_errors	NM_173588	genbank	human	validated	54_36p	missense	SNP	0.993	A
AC012414.1	0	genome.wustl.edu	37	15	21004741	21004741	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr15:21004741C>T	ENST00000595502.1	+	1	55	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C																								CCTGCAACGCCGTGCGCTAGA	0.642																																																0			15																																								19264801	SO:0001583	missense	81787																														ENST00000595502.1:c.55C>T	15.37:g.21004741C>T	ENSP00000470218:p.Arg19Cys		19264801		RNA	SNP	-	NULL	ENST00000595502.1	37	NULL		15																																																																																			-	-		0.642	AC012414.1-201	NOVEL	basic|appris_principal	protein_coding	DKFZP547L112	protein_coding		C			19264801	+1	no_errors	XR_041953	genbank	human	model	54_36p	rna	SNP	0.000	T
KIF17	57576	genome.wustl.edu	37	1	21041991	21041991	+	Missense_Mutation	SNP	C	C	T	rs146714930	byFrequency	TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:21041991C>T	ENST00000247986.2	-	2	683	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	KIF17_ENST00000375044.1_Missense_Mutation_p.V25I|KIF17_ENST00000400463.3_Missense_Mutation_p.V125I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTACCTGGACGCTCTCGAAC	0.657													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18803	0.001		0.0	False		,,,				2504	0.0															0			1						C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	65.0	61.0	62.0		373,373	5.3	0.9	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	KIF17	NM_001122819.1,NM_020816.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	125/1029,125/1030	21041991	1,13005	2203	4300	6503	20914578	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.373G>A	1.37:g.21041991C>T	ENSP00000247986:p.Val125Ile		20914578	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.V125I	ENST00000247986.2	37	c.373	CCDS213.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.346	0.249075	0.10130	2.27E-4	0.0	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.72942	-0.7;-0.7;-0.7	5.27	5.27	0.74061	Kinesin, motor domain (4);	0.000000	0.29892	U	0.010927	T	0.30135	0.0755	N	0.00413	-1.525	0.35162	D	0.770759	P;P	0.37061	0.477;0.58	B;B	0.33750	0.056;0.169	T	0.57347	-0.7827	10	0.02654	T	1	.	11.0167	0.47693	0.0:0.9138:0.0:0.0862	.	125;125	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	I	25;125;125	ENSP00000364184:V25I;ENSP00000383311:V125I;ENSP00000247986:V125I	ENSP00000247986:V125I	V	-	1	0	KIF17	20914578	0.994000	0.37717	0.930000	0.37139	0.413000	0.31143	2.965000	0.49200	2.469000	0.83416	0.650000	0.86243	GTC	-	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin		0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	protein_coding	OTTHUMT00000276995.1	C	NM_020816		20914578	-1	no_errors	NM_020816	genbank	human	validated	54_36p	missense	SNP	0.999	T
IGLV5-48	28780	genome.wustl.edu	37	22	22707543	22707543	+	RNA	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr22:22707543G>A	ENST00000390293.1	+	0	131									immunoglobulin lambda variable 5-48 (non-functional)																		TGCACCTTGCGCAGTGGCATC	0.547																																																0			22											111.0	114.0	113.0					22																	22707543		2045	4218	6263	21037543			0			Z73649		22q11.2	2012-02-08	2008-09-15		ENSG00000211647	ENSG00000211647		"""Immunoglobulins / IGL locus"""	5925	other	immunoglobulin gene			"""immunoglobulin lambda variable 5-48"""				Standard	NG_000002		Approved				OTTHUMG00000151041		22.37:g.22707543G>A			21037543		Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406	p.R44H	ENST00000390293.1	37	c.131		22																																																																																			-	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406		0.547	IGLV5-48-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000211647	IG_V_gene	OTTHUMT00000321100.2	G	NG_000002		21037543	+1	no_stop_codon	ENST00000390293	ensembl	human	known	54_36p	missense	SNP	0.845	A
POLA1	5422	genome.wustl.edu	37	X	24767067	24767067	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chrX:24767067C>T	ENST00000379059.3	+	26	2919	c.2904C>T	c.(2902-2904)taC>taT	p.Y968Y	POLA1_ENST00000379068.3_Silent_p.Y974Y	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	968					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.Y968Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GCAGATTTTACGCCAAACCAC	0.423																																																1	Substitution - coding silent(1)	endometrium(1)	X											139.0	110.0	120.0					X																	24767067		2203	4300	6503	24676988	SO:0001819	synonymous_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2904C>T	X.37:g.24767067C>T			24676988	Q86UQ7	Silent	SNP	superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B,HMMPfam_zf-DNA_Pol,superfamily_SSF90234	p.Y968	ENST00000379059.3	37	c.2904	CCDS14214.1	X																																																																																			-	HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B		0.423	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	protein_coding	OTTHUMT00000056111.1	C	NM_016937		24676988	+1	no_errors	NM_016937	genbank	human	validated	54_36p	silent	SNP	0.979	T
APOBR	55911	genome.wustl.edu	37	16	28507445	28507445	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr16:28507445G>C	ENST00000431282.1	+	3	1066	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	APOBR_ENST00000328423.5_Missense_Mutation_p.E352D|APOBR_ENST00000564831.1_Missense_Mutation_p.E361D|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	352	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGAGGGGAGGAGGCCGGGA	0.682																																																0			16											12.0	15.0	14.0					16																	28507445		1938	4080	6018	28414946	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1056G>C	16.37:g.28507445G>C	ENSP00000416094:p.Glu352Asp		28414946	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E352D	ENST00000431282.1	37	c.1056		16	.	.	.	.	.	.	.	.	.	.	G	7.381	0.628786	0.14257	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	3.42	-2.0	0.07433	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.18147	-1.0346	8	0.33940	T	0.23	.	4.5869	0.12287	0.5053:0.1711:0.3237:0.0	.	352	Q9NS13	.	D	352	ENSP00000327669:E352D;ENSP00000416094:E352D	ENSP00000327669:E352D	E	+	3	2	APOBR	28414946	0.040000	0.19996	0.000000	0.03702	0.006000	0.05464	0.236000	0.17967	-0.482000	0.06782	-1.291000	0.01355	GAG	-	NULL		0.682	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	uc002dqb.1	protein_coding		G	NM_182804		28414946	+1	no_errors	ENST00000328423	ensembl	human	known	54_36p	missense	SNP	0.927	C
XXbac-BPG308J9.3	0	genome.wustl.edu	37	6	29230612	29230612	+	lincRNA	SNP	A	A	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr6:29230612A>G	ENST00000441381.1	+	0	79																											TGGATACCACAATGAGATGGG	0.418																																																0			6											112.0	98.0	103.0					6																	29230612		1905	4130	6035	29338591			0																															6.37:g.29230612A>G			29338591		Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.I249	ENST00000441381.1	37	c.747		6																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.418	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	uc003nmb.1	lincRNA	OTTHUMT00000192829.1	A			29338591	-1	no_errors	ENST00000377164	ensembl	human	known	54_36p	silent	SNP	0.046	G
EPC1	80314	genome.wustl.edu	37	10	32580215	32580215	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr10:32580215G>C	ENST00000263062.8	-	6	1120	c.851C>G	c.(850-852)tCt>tGt	p.S284C	EPC1_ENST00000375110.2_Missense_Mutation_p.S234C|EPC1_ENST00000319778.6_Missense_Mutation_p.S284C	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	284					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CATAACCTCAGACATGATCTC	0.338																																																0			10											109.0	104.0	106.0					10																	32580215		2203	4300	6503	32620221	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.851C>G	10.37:g.32580215G>C	ENSP00000263062:p.Ser284Cys		32620221	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	HMMPfam_EPL1,HMMPfam_E_Pc_C	p.S284C	ENST00000263062.8	37	c.851	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202564	0.79127	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.71817	-0.6;-0.6;-0.6	5.31	5.31	0.75309	.	0.048098	0.85682	D	0.000000	T	0.79616	0.4476	L	0.52573	1.65	0.51012	D	0.999909	D;D;D;D	0.65815	0.98;0.995;0.964;0.98	P;P;P;P	0.60789	0.775;0.794;0.879;0.775	T	0.79470	-0.1790	10	0.51188	T	0.08	-11.6742	19.3313	0.94291	0.0:0.0:1.0:0.0	.	284;234;284;284	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	C	234;284;284	ENSP00000364251:S234C;ENSP00000318559:S284C;ENSP00000263062:S284C	ENSP00000263062:S284C	S	-	2	0	EPC1	32620221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.123000	0.71614	2.654000	0.90174	0.467000	0.42956	TCT	-	NULL		0.338	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	protein_coding	OTTHUMT00000047484.1	G			32620221	-1	no_errors	NM_025209	genbank	human	provisional	54_36p	missense	SNP	1.000	C
DAXX	1616	genome.wustl.edu	37	6	33288657	33288657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr6:33288657G>A	ENST00000374542.5	-	3	1099	c.895C>T	c.(895-897)Cga>Tga	p.R299*	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Nonsense_Mutation_p.R299*|DAXX_ENST00000414083.2_Nonsense_Mutation_p.R224*	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	299	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGCTGTGTCGGGCAGCTGCC	0.592			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0			6											85.0	74.0	78.0					6																	33288657		2203	4300	6503	33396635	SO:0001587	stop_gained	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.895C>T	6.37:g.33288657G>A	ENSP00000363668:p.Arg299*		33396635	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Nonsense_Mutation	SNP	HMMPfam_Daxx	p.R299*	ENST00000374542.5	37	c.895	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.437385	0.96168	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	2.69	0.31865	.	0.118801	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4354	9.9436	0.41596	0.0:0.0:0.4992:0.5008	.	.	.	.	X	299;299;224	.	ENSP00000266000:R299X	R	-	1	2	DAXX	33396635	0.968000	0.33430	0.770000	0.31555	0.980000	0.70556	2.067000	0.41461	1.182000	0.42928	0.643000	0.83706	CGA	-	HMMPfam_Daxx		0.592	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	protein_coding	OTTHUMT00000076403.1	G			33396635	-1	no_errors	NM_001350	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	A
NPC1L1	29881	genome.wustl.edu	37	7	44578933	44578933	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:44578933T>C	ENST00000289547.4	-	2	1118	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.I355V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I355V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.I355V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	355					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCACCAAGATGGTCAGAGGC	0.632																																																0			7											100.0	99.0	100.0					7																	44578933		2203	4300	6503	44545458	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1063A>G	7.37:g.44578933T>C	ENSP00000289547:p.Ile355Val		44545458	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	HMMPfam_Patched,superfamily_SSF82866	p.I355V	ENST00000289547.4	37	c.1063	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.578733	0.00879	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.05	-5.52	0.02560	.	0.355425	0.26935	N	0.021749	T	0.56499	0.1989	N	0.02775	-0.495	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	T	0.47661	-0.9100	10	0.02654	T	1	-23.2178	19.1431	0.93452	0.0:0.8644:0.0:0.1356	.	355;355;355;355	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	V	355	ENSP00000289547:I355V;ENSP00000370552:I355V;ENSP00000438033:I355V;ENSP00000404670:I355V	ENSP00000289547:I355V	I	-	1	0	NPC1L1	44545458	0.000000	0.05858	0.035000	0.18076	0.488000	0.33401	-2.064000	0.01387	-1.013000	0.03383	0.379000	0.24179	ATC	-	NULL		0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	protein_coding	OTTHUMT00000251256.1	T	NM_013389		44545458	-1	no_errors	NM_013389	genbank	human	validated	54_36p	missense	SNP	0.009	C
ZNF574	64763	genome.wustl.edu	37	19	42584419	42584419	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:42584419G>C	ENST00000600245.1	+	2	2316	c.1661G>C	c.(1660-1662)gGg>gCg	p.G554A	ZNF574_ENST00000359044.4_Missense_Mutation_p.G554A|ZNF574_ENST00000222339.7_Missense_Mutation_p.G644A|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TACCGGTGTGGGGACTGTGGC	0.652																																																0			19											87.0	91.0	90.0					19																	42584419		2203	4300	6503	47276259	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1661G>C	19.37:g.42584419G>C	ENSP00000469029:p.Gly554Ala		47276259	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.G554A	ENST00000600245.1	37	c.1661	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369674	0.24771	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.17854	2.25;2.25	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.307523	0.30658	N	0.009152	T	0.10252	0.0251	N	0.04275	-0.24	0.37314	D	0.909243	P;P	0.46859	0.649;0.885	B;P	0.48189	0.353;0.57	T	0.23940	-1.0174	10	0.27082	T	0.32	-24.9683	8.0305	0.30461	0.1742:0.0:0.8258:0.0	.	554;643	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	A	644;554;161	ENSP00000222339:G644A;ENSP00000351939:G554A	ENSP00000222339:G644A	G	+	2	0	ZNF574	47276259	0.000000	0.05858	1.000000	0.80357	0.313000	0.28021	0.674000	0.25218	2.418000	0.82041	0.650000	0.86243	GGG	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.652	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	protein_coding	OTTHUMT00000463458.1	G	NM_022752		47276259	+1	no_errors	NM_022752	genbank	human	validated	54_36p	missense	SNP	1.000	C
FSHR	2492	genome.wustl.edu	37	2	49244660	49244660	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:49244660C>G	ENST00000406846.2	-	4	461	c.342G>C	c.(340-342)gaG>gaC	p.E114D	FSHR_ENST00000346173.3_Missense_Mutation_p.E114D|FSHR_ENST00000304421.4_Missense_Mutation_p.E114D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	114					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTGGAAGGCCTCAGGGTTGA	0.393									Gonadal Dysgenesis, 46 XX																																							0			2											149.0	139.0	143.0					2																	49244660		2203	4300	6503	49098164	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.342G>C	2.37:g.49244660C>G	ENSP00000384708:p.Glu114Asp		49098164	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E114D	ENST00000406846.2	37	c.342	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	C	3.697	-0.062328	0.07273	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.17	1.19	0.21007	.	0.315473	0.32802	N	0.005640	T	0.16896	0.0406	N	0.01242	-0.935	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.03493	-1.1031	9	.	.	.	.	3.8098	0.08792	0.2004:0.504:0.0:0.2956	.	114;114;114	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	D	114	ENSP00000384708:E114D;ENSP00000333908:E114D;ENSP00000306780:E114D;ENSP00000415504:E114D	.	E	-	3	2	FSHR	49098164	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	0.101000	0.15251	0.017000	0.15025	0.655000	0.94253	GAG	-	superfamily_L domain-like		0.393	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	C			49098164	-1	no_errors	NM_000145	genbank	human	reviewed	54_36p	missense	SNP	0.979	G
GLS2	27165	genome.wustl.edu	37	12	56868425	56868425	+	Missense_Mutation	SNP	G	G	A	rs150956694		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:56868425G>A	ENST00000311966.4	-	12	1405	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	376					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	ACTCTCGCCTGTGATGGGGCA	0.547																																																0			12						G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	137.0	123.0	128.0		1127	5.7	1.0	12	dbSNP_134	128	0,8600		0,0,4300	no	missense	GLS2	NM_013267.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	376/603	56868425	1,13005	2203	4300	6503	55154692	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1127C>T	12.37:g.56868425G>A	ENSP00000310447:p.Thr376Ile		55154692	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.T376I	ENST00000311966.4	37	c.1127	CCDS8921.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.313728	0.95655	2.27E-4	0.0	ENSG00000135423	ENST00000311966	T	0.49720	0.77	5.69	5.69	0.88448	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	M	0.93638	3.44	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82554	-0.0399	10	0.66056	D	0.02	-14.044	18.9754	0.92733	0.0:0.0:1.0:0.0	.	376	Q9UI32	GLSL_HUMAN	I	376	ENSP00000310447:T376I	ENSP00000310447:T376I	T	-	2	0	GLS2	55154692	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.804000	0.99143	2.857000	0.98124	0.650000	0.86243	ACA	-	superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase		0.547	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	protein_coding	OTTHUMT00000277113.1	G	NM_013267		55154692	-1	no_errors	NM_013267	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR5M1	390168	genome.wustl.edu	37	11	56380730	56380730	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:56380730G>C	ENST00000526538.1	-	1	248	c.249C>G	c.(247-249)caC>caG	p.H83Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGAGGAAATTGTGCAGCATAT	0.453																																																0			11											148.0	141.0	143.0					11																	56380730		1912	4122	6034	56137306	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.249C>G	11.37:g.56380730G>C	ENSP00000435416:p.His83Gln		56137306	Q6IF60|Q96RB6	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.H83Q	ENST00000526538.1	37	c.249	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	4.156	0.027352	0.08054	.	.	ENSG00000255012	ENST00000526538	T	0.01947	4.54	3.71	-5.31	0.02730	GPCR, rhodopsin-like superfamily (1);	1.696830	0.03812	N	0.266084	T	0.01156	0.0038	N	0.02275	-0.615	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.48906	-0.8993	10	0.35671	T	0.21	-9.2812	7.6514	0.28350	0.5708:0.1199:0.3093:0.0	.	83	Q8NGP8	OR5M1_HUMAN	Q	83	ENSP00000435416:H83Q	ENSP00000435416:H83Q	H	-	3	2	OR5M1	56137306	0.000000	0.05858	0.000000	0.03702	0.808000	0.45660	-4.712000	0.00195	-1.119000	0.02958	0.280000	0.19369	CAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.453	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56137306	-1	no_errors	NM_001004740	genbank	human	provisional	54_36p	missense	SNP	0.000	C
SLC16A7	9194	genome.wustl.edu	37	12	60165106	60165106	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:60165106C>T	ENST00000261187.4	+	3	488	c.324C>T	c.(322-324)agC>agT	p.S108S	SLC16A7_ENST00000552024.1_Silent_p.S108S|SLC16A7_ENST00000543448.1_Silent_p.S9S|SLC16A7_ENST00000547379.1_Silent_p.S108S|SLC16A7_ENST00000552432.1_Silent_p.S108S	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	108					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTAGTAGCAGCGTGGTACAGC	0.433																																																0			12											249.0	217.0	227.0					12																	60165106		2203	4300	6503	58451373	SO:0001819	synonymous_variant	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.324C>T	12.37:g.60165106C>T			58451373	Q8NEM3|Q9UPB3	Silent	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.S108	ENST00000261187.4	37	c.324	CCDS8961.1	12																																																																																			-	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1		0.433	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	protein_coding	OTTHUMT00000406587.1	C	NM_004731		58451373	+1	no_errors	NM_004731	genbank	human	provisional	54_36p	silent	SNP	0.724	T
LILRA4	23547	genome.wustl.edu	37	19	54849434	54849434	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:54849434C>A	ENST00000291759.4	-	4	484	c.428G>T	c.(427-429)tGt>tTt	p.C143F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	143	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGTGAGGCACACCGGAGGGT	0.572																																																0			19											60.0	60.0	60.0					19																	54849434		2203	4300	6503	59541246	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.428G>T	19.37:g.54849434C>A	ENSP00000291759:p.Cys143Phe		59541246	Q32MC4	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.C143F	ENST00000291759.4	37	c.428	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	7.303	0.613400	0.14066	.	.	ENSG00000239961	ENST00000291759	T	0.33438	1.41	2.65	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	T	0.64692	0.2621	H	0.98507	4.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56523	-0.7965	10	0.87932	D	0	.	5.4466	0.16539	0.0:0.8381:0.0:0.1619	.	143	P59901	LIRA4_HUMAN	F	143	ENSP00000291759:C143F	ENSP00000291759:C143F	C	-	2	0	LILRA4	59541246	0.489000	0.26004	0.021000	0.16686	0.013000	0.08279	0.806000	0.27126	0.680000	0.31366	0.563000	0.77884	TGT	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	protein_coding	OTTHUMT00000140229.2	C	NM_012276		59541246	-1	no_errors	NM_012276	genbank	human	reviewed	54_36p	missense	SNP	0.458	A
PGA3	643834	genome.wustl.edu	37	11	60975042	60975042	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:60975042C>T	ENST00000325558.6	+	4	596	c.411C>T	c.(409-411)taC>taT	p.Y137Y	PGA3_ENST00000543125.1_5'Flank	NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	137					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATCACCTACGGCACCGGCA	0.587																																																0			11											1.0	1.0	1.0					11																	60975042		952	1315	2267	60731618	SO:0001819	synonymous_variant	643834			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.411C>T	11.37:g.60975042C>T			60731618	A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	superfamily_Acid proteases,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE	p.Y137	ENST00000325558.6	37	c.411	CCDS31574.1	11																																																																																			-	superfamily_Acid proteases,HMMPfam_Asp		0.587	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA3	protein_coding	OTTHUMT00000397955.2	C	NM_001079807		60731618	+1	no_errors	NM_001079807	genbank	human	validated	54_36p	silent	SNP	0.990	T
KBTBD8	84541	genome.wustl.edu	37	3	67054571	67054571	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr3:67054571G>A	ENST00000417314.2	+	3	1229	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.A368T			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	394						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAAAATGTATGCAATCGGAGG	0.438																																																0			3											177.0	169.0	172.0					3																	67054571		2203	4300	6503	67137261	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1180G>A	3.37:g.67054571G>A	ENSP00000401878:p.Ala394Thr		67137261	B4DTW6|Q96JI5	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612	p.A368T	ENST00000417314.2	37	c.1102	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882844	0.91740	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79554	-1.28;-1.28	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.81239	2.535	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.90109	0.4190	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	394	Q8NFY9	KBTB8_HUMAN	T	368;394	ENSP00000295568:A368T;ENSP00000401878:A394T	.	A	+	1	0	KBTBD8	67137261	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.813000	0.99286	2.676000	0.91093	0.557000	0.71058	GCA	-	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612		0.438	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	protein_coding	OTTHUMT00000352189.1	G	NM_032505		67137261	+1	no_errors	NM_032505	genbank	human	provisional	54_36p	missense	SNP	1.000	A
UCP3	7352	genome.wustl.edu	37	11	73717372	73717372	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:73717372C>T	ENST00000314032.4	-	3	731	c.179G>A	c.(178-180)gGc>gAc	p.G60D	UCP3_ENST00000426995.2_Missense_Mutation_p.G60D|UCP3_ENST00000348534.4_Missense_Mutation_p.G60D	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	60					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCCCAGCACGCCACGGTACTG	0.657																																																0			11											21.0	22.0	22.0					11																	73717372		2200	4290	6490	73395020	SO:0001583	missense	7352			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.179G>A	11.37:g.73717372C>T	ENSP00000323740:p.Gly60Asp		73395020	O60475|Q96HL3	Missense_Mutation	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.G60D	ENST00000314032.4	37	c.179	CCDS8229.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740431	0.89573	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.31	5.31	0.75309	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96140	0.9099	10	0.87932	D	0	-10.381	18.5737	0.91147	0.0:1.0:0.0:0.0	.	60	P55916	UCP3_HUMAN	D	60	ENSP00000323740:G60D;ENSP00000343615:G60D;ENSP00000392143:G60D;ENSP00000445279:G60D	ENSP00000323740:G60D	G	-	2	0	UCP3	73395020	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	7.769000	0.85360	2.498000	0.84270	0.561000	0.74099	GGC	-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.657	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	protein_coding	OTTHUMT00000398200.1	C	NM_003356		73395020	-1	no_errors	NM_003356	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LRRTM1	347730	genome.wustl.edu	37	2	80530448	80530448	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:80530448A>G	ENST00000295057.3	-	2	1153	c.497T>C	c.(496-498)cTg>cCg	p.L166P	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.L166P|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	166					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCGCATATGCAGCGTGGTGAG	0.617										HNSCC(69;0.2)																																						0			2											68.0	74.0	72.0					2																	80530448		2203	4300	6503	80383959	SO:0001583	missense	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.497T>C	2.37:g.80530448A>G	ENSP00000295057:p.Leu166Pro		80383959	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP	p.L166P	ENST00000295057.3	37	c.497	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307446	0.60305	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000005	D	0.93835	0.8028	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95603	0.8665	9	.	.	.	.	13.9153	0.63893	1.0:0.0:0.0:0.0	.	166	Q86UE6	LRRT1_HUMAN	P	166	ENSP00000295057:L166P;ENSP00000386646:L166P;ENSP00000415368:L166P;ENSP00000389473:L166P	.	L	-	2	0	LRRTM1	80383959	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	1.671000	0.50874	0.482000	0.46254	CTG	-	superfamily_SSF52058,HMMSmart_LRR_TYP		0.617	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	protein_coding	OTTHUMT00000313614.1	A	NM_178839		80383959	-1	no_errors	NM_178839	genbank	human	validated	54_36p	missense	SNP	1.000	G
MDN1	23195	genome.wustl.edu	37	6	90384194	90384194	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr6:90384194G>T	ENST00000369393.3	-	79	12991	c.12876C>A	c.(12874-12876)caC>caA	p.H4292Q	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.H4292Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4292					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCATGGCCAGGTGCTGCAGGC	0.647																																																0			6											23.0	24.0	24.0					6																	90384194		2203	4299	6502	90440915	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12876C>A	6.37:g.90384194G>T	ENSP00000358400:p.His4292Gln		90440915	O15019|Q5T794	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327	p.H4292Q	ENST00000369393.3	37	c.12876	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431778	0.25813	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02863	4.13;4.13	5.87	0.901	0.19284	.	0.337180	0.33092	N	0.005296	T	0.00637	0.0021	L	0.40543	1.245	0.24904	N	0.992088	B	0.12013	0.005	B	0.11329	0.006	T	0.48927	-0.8991	10	0.13853	T	0.58	.	2.3421	0.04263	0.3267:0.1055:0.4484:0.1194	.	4292	Q9NU22	MDN1_HUMAN	Q	4292	ENSP00000358400:H4292Q;ENSP00000413970:H4292Q	ENSP00000358400:H4292Q	H	-	3	2	MDN1	90440915	0.898000	0.30612	0.974000	0.42286	0.980000	0.70556	0.014000	0.13333	0.094000	0.17404	-0.140000	0.14226	CAC	-	NULL		0.647	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	G			90440915	-1	no_errors	NM_014611	genbank	human	provisional	54_36p	missense	SNP	0.920	T
KIF20B	9585	genome.wustl.edu	37	10	91497478	91497478	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr10:91497478G>T	ENST00000371728.3	+	20	2945	c.2880G>T	c.(2878-2880)aaG>aaT	p.K960N	KIF20B_ENST00000394289.2_Missense_Mutation_p.K960N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.K990N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K920N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	960					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAGGAAAAGATCATGAAAT	0.299																																																0			10											59.0	63.0	62.0					10																	91497478		2192	4293	6485	91487458	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2880G>T	10.37:g.91497478G>T	ENSP00000360793:p.Lys960Asn		91487458	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.K920N	ENST00000371728.3	37	c.2760		10	.	.	.	.	.	.	.	.	.	.	G	7.788	0.710972	0.15239	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.72505	-0.58;-0.6;-0.66;-0.59	5.8	3.95	0.45737	.	0.339214	0.25445	N	0.030630	T	0.65719	0.2718	L	0.50333	1.59	0.22240	N	0.999267	P;P	0.49783	0.883;0.928	B;P	0.45829	0.299;0.494	T	0.61501	-0.7050	10	0.72032	D	0.01	-3.3157	7.8601	0.29506	0.3344:0.0:0.6656:0.0	.	960;920	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	920;990;960;960	ENSP00000260753:K920N;ENSP00000411545:K990N;ENSP00000377830:K960N;ENSP00000360793:K960N	ENSP00000260753:K920N	K	+	3	2	KIF20B	91487458	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	0.523000	0.22925	1.454000	0.47793	0.591000	0.81541	AAG	-	NULL		0.299	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91487458	+1	no_errors	NM_016195	genbank	human	validated	54_36p	missense	SNP	0.499	T
CYP51A1	1595	genome.wustl.edu	37	7	91746450	91746450	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:91746450G>A	ENST00000003100.8	-	9	1424	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.S315L	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	414					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TTCTACCCATGAGTCTTTAAG	0.453																																					GBM(70;1100 1190 11592 25836 51397)											0			7											102.0	93.0	96.0					7																	91746450		2203	4300	6503	91584386	SO:0001583	missense	1595			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1259C>T	7.37:g.91746450G>A	ENSP00000003100:p.Ser420Leu		91584386	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_TRYPSIN_HIS,PatternScan_CYTOCHROME_P450	p.S420L	ENST00000003100.8	37	c.1259	CCDS5623.1	7	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462632	0.43736	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	T;T	0.65732	-0.17;-0.17	4.41	3.53	0.40419	.	0.426180	0.26007	N	0.026913	T	0.30792	0.0776	N	0.04724	-0.175	0.80722	D	1	B;P	0.37500	0.246;0.597	B;B	0.29353	0.064;0.101	T	0.14476	-1.0471	10	0.10636	T	0.68	.	9.2261	0.37407	0.0814:0.1463:0.7723:0.0	.	360;414	B3KRC6;Q16850	.;CP51A_HUMAN	L	420;360;315	ENSP00000003100:S420L;ENSP00000406757:S315L	ENSP00000003100:S420L	S	-	2	0	CYP51A1	91584386	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.327000	0.59247	1.200000	0.43188	0.460000	0.39030	TCA	-	HMMPfam_p450,superfamily_Cytochrome P450		0.453	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	protein_coding	OTTHUMT00000253812.4	G			91584386	-1	no_errors	NM_000786	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DUSP2	1844	genome.wustl.edu	37	2	96810590	96810590	+	Silent	SNP	G	G	T	rs187607778		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:96810590G>T	ENST00000288943.4	-	2	505	c.420C>A	c.(418-420)ccC>ccA	p.P140P	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	140	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				AGCACAGATCGGGACAGCAGC	0.672																																																0			2						G		1,4257		0,1,2128	15.0	20.0	18.0		420	-8.6	0.4	2		18	5,8441		0,5,4218	no	coding-synonymous	DUSP2	NM_004418.3		0,6,6346	TT,TG,GG		0.0592,0.0235,0.0472		140/315	96810590	6,12698	2129	4223	6352	96174317	SO:0001819	synonymous_variant	1844			L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.420C>A	2.37:g.96810590G>T			96174317	Q53T45	Silent	SNP	superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450,HMMPfam_Rhodanese,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.P140	ENST00000288943.4	37	c.420	CCDS2016.1	2																																																																																			-	superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450		0.672	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP2	protein_coding	OTTHUMT00000252847.1	G	NM_004418		96174317	-1	no_errors	NM_004418	genbank	human	reviewed	54_36p	silent	SNP	0.879	T
FANCC	2176	genome.wustl.edu	37	9	98055817	98055817	+	Intron	SNP	C	C	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr9:98055817C>G	ENST00000289081.3	-	1	177				FANCC_ENST00000375305.1_Intron	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C						DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TTTACAAGAACTAGGGAACAC	0.413			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0			9																																								97095638	SO:0001627	intron_variant	643342	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.77+23990G>C	9.37:g.98055817C>G			97095638	B1ALR8	RNA	SNP	-	NULL	ENST00000289081.3	37	NULL	CCDS35071.1	9																																																																																			-	-		0.413	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC643342	protein_coding	OTTHUMT00000053219.1	C	NM_000136		97095638	+1	pseudogene	XR_016301	genbank	human	model	54_36p	rna	SNP	0.002	G
PCDH19	57526	genome.wustl.edu	37	X	99551361	99551361	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chrX:99551361C>A	ENST00000373034.4	-	6	5036	c.3361G>T	c.(3361-3363)Gtc>Ttc	p.V1121F	PCDH19_ENST00000420881.2_Missense_Mutation_p.V1073F|PCDH19_ENST00000255531.7_Missense_Mutation_p.V1074F|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1121					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCATGCATGACTTTCTCGCTA	0.542																																																0			X											127.0	118.0	121.0					X																	99551361		2031	4185	6216	99438017	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3361G>T	X.37:g.99551361C>A	ENSP00000362125:p.Val1121Phe		99438017	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.V1074F	ENST00000373034.4	37	c.3220	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433127	0.25813	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55413	0.52;0.57;0.52	5.52	3.73	0.42828	.	0.194003	0.44902	D	0.000412	T	0.32133	0.0819	N	0.24115	0.695	0.39588	D	0.969533	P;B;B	0.40476	0.718;0.372;0.255	B;B;B	0.30782	0.12;0.088;0.041	T	0.29549	-1.0008	10	0.72032	D	0.01	.	9.169	0.37069	0.0:0.7082:0.0:0.2918	.	1121;1074;1073	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	F	1073;1121;1074	ENSP00000400327:V1073F;ENSP00000362125:V1121F;ENSP00000255531:V1074F	ENSP00000255531:V1074F	V	-	1	0	PCDH19	99438017	0.999000	0.42202	0.982000	0.44146	0.965000	0.64279	0.981000	0.29526	1.095000	0.41419	0.600000	0.82982	GTC	-	NULL		0.542	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	protein_coding	OTTHUMT00000057479.2	C	NM_020766		99438017	-1	no_errors	NM_001105243	genbank	human	validated	54_36p	missense	SNP	0.986	A
DIO3	1735	genome.wustl.edu	37	14	102028377	102028377	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr14:102028377C>T	ENST00000510508.4	+	1	690	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	DIO3_ENST00000359323.3_Missense_Mutation_p.R156C|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	182					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGCCTTCCAGCGCCTGGTCAC	0.617																																																0			14											39.0	45.0	43.0					14																	102028377		2073	4188	6261	101098130	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.544C>T	14.37:g.102028377C>T	ENSP00000427336:p.Arg182Cys		101098130	G3XAM0|Q8WVN5	Missense_Mutation	SNP	HMMPfam_T4_deiodinase	p.R156C	ENST00000510508.4	37	c.466	CCDS41992.2	14	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582417	0.86748	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.38560	1.13;1.13	3.51	3.51	0.40186	Thioredoxin-like fold (1);	.	.	.	.	T	0.66157	0.2761	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.74306	-0.3708	9	0.87932	D	0	.	14.2065	0.65737	0.0:1.0:0.0:0.0	.	156	P55073	IOD3_HUMAN	C	156;182	ENSP00000352273:R156C;ENSP00000427336:R182C	ENSP00000352273:R182C	R	+	1	0	DIO3;AL049836.1	101098130	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.725000	0.68507	1.799000	0.52666	0.462000	0.41574	CGC	-	HMMPfam_T4_deiodinase		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3	protein_coding	OTTHUMT00000361712.4	C	NM_001362		101098130	+1	pseudogene	NM_001362	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DPH5	51611	genome.wustl.edu	37	1	101456177	101456177	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:101456177C>T	ENST00000370109.3	-	8	757	c.645G>A	c.(643-645)gaG>gaA	p.E215E	AC093157.1_ENST00000593496.1_Silent_p.S57S|DPH5_ENST00000488176.1_Silent_p.E215E|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E214E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	215					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAAGTGTCTCCTCGGTAACTG	0.423																																																0			1											68.0	65.0	66.0					1																	101456177		1913	4115	6028	101228765	SO:0001819	synonymous_variant	51611			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.645G>A	1.37:g.101456177C>T			101228765	A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	HMMPfam_TP_methylase,superfamily_Tetrapyrrole methylase	p.E215	ENST00000370109.3	37	c.645	CCDS41358.1	1																																																																																			-	superfamily_Tetrapyrrole methylase		0.423	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	protein_coding	OTTHUMT00000029881.1	C	NM_015958		101228765	-1	no_errors	NM_001077394	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ABCA1	19	genome.wustl.edu	37	9	107550766	107550766	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr9:107550766T>C	ENST00000374736.3	-	45	6404	c.6010A>G	c.(6010-6012)Aga>Gga	p.R2004G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2004	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACGTGTTCTCTCCCAGTCAAC	0.478																																																0			9											152.0	149.0	150.0					9																	107550766		2203	4300	6503	106590587	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6010A>G	9.37:g.107550766T>C	ENSP00000363868:p.Arg2004Gly		106590587	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.R2004G	ENST00000374736.3	37	c.6010	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288378	0.80803	.	.	ENSG00000165029	ENST00000374736	D	0.94184	-3.37	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.83312	2.635	0.80722	D	1	D	0.60160	0.987	D	0.67103	0.949	D	0.96812	0.9597	10	0.87932	D	0	.	13.2424	0.60004	0.0:0.0:0.1407:0.8593	.	2004	O95477	ABCA1_HUMAN	G	2004	ENSP00000363868:R2004G	ENSP00000363868:R2004G	R	-	1	2	ABCA1	106590587	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	4.281000	0.58965	2.311000	0.77944	0.529000	0.55759	AGA	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran		0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	T	NM_005502		106590587	-1	no_errors	NM_005502	genbank	human	reviewed	54_36p	missense	SNP	0.997	C
COL4A2	1284	genome.wustl.edu	37	13	111138036	111138036	+	Silent	SNP	A	A	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr13:111138036A>G	ENST00000360467.5	+	34	3366	c.3060A>G	c.(3058-3060)tcA>tcG	p.S1020S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1020	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGCTGTCAGGAATCCCTG	0.612																																																0			13											40.0	48.0	46.0					13																	111138036		1878	4107	5985	109936037	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3060A>G	13.37:g.111138036A>G			109936037	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold	p.S1020	ENST00000360467.5	37	c.3060	CCDS41907.1	13																																																																																			-	HMMPfam_Collagen		0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	A	NM_001846		109936037	+1	no_errors	NM_001846	genbank	human	reviewed	54_36p	silent	SNP	0.045	G
VPS37B	79720	genome.wustl.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:123351949T>G	ENST00000267202.2	-	4	953	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	191	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.Y191S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706																																																2	Substitution - Missense(2)	central_nervous_system(1)|skin(1)	12																																								121917902	SO:0001583	missense	79720			AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.572A>C	12.37:g.123351949T>G	ENSP00000267202:p.Tyr191Ser		121917902		Missense_Mutation	SNP	HMMPfam_Mod_r	p.Y191S	ENST00000267202.2	37	c.572	CCDS9239.1	12	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853426	0.32791	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.58210	0.36;0.35	5.03	3.89	0.44902	.	0.628472	0.17365	N	0.176868	T	0.50377	0.1612	M	0.73598	2.24	0.43512	D	0.995779	B	0.18461	0.028	B	0.16289	0.015	T	0.41016	-0.9532	10	0.29301	T	0.29	-5.0922	9.6845	0.40089	0.0:0.0824:0.0:0.9176	.	191	Q9H9H4	VP37B_HUMAN	S	191;189	ENSP00000267202:Y191S;ENSP00000446075:Y189S	ENSP00000267202:Y191S	Y	-	2	0	VPS37B	121917902	1.000000	0.71417	0.990000	0.47175	0.125000	0.20455	2.647000	0.46639	0.758000	0.33059	0.533000	0.62120	TAC	-	NULL		0.706	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37B	protein_coding	OTTHUMT00000400946.1	T	NM_024667		121917902	-1	no_errors	NM_024667	genbank	human	validated	54_36p	missense	SNP	0.998	G
PCDH1	5097	genome.wustl.edu	37	5	141243932	141243932	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr5:141243932T>C	ENST00000394536.3	-	3	2103	c.1964A>G	c.(1963-1965)aAc>aGc	p.N655S	PCDH1_ENST00000456271.1_Missense_Mutation_p.N643S|PCDH1_ENST00000287008.3_Missense_Mutation_p.N655S|PCDH1_ENST00000536585.1_Missense_Mutation_p.N633S|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AAAGTCACCGTTGTCCTGCTC	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)											0			5											121.0	120.0	120.0					5																	141243932		2203	4300	6503	141224116	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1964A>G	5.37:g.141243932T>C	ENSP00000378043:p.Asn655Ser		141224116	Q8IUP2	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_GREAB_2,HMMPfam_Protocadherin	p.N655S	ENST00000394536.3	37	c.1964	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	t	4.057	0.008338	0.07912	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60171	0.21;5.29;5.29;5.29;5.29	5.85	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000038	T	0.37046	0.0989	N	0.16790	0.44	0.38936	D	0.958052	B;B	0.24092	0.016;0.097	B;B	0.25506	0.015;0.061	T	0.30238	-0.9985	10	0.30854	T	0.27	.	6.5656	0.22511	0.0:0.1681:0.0:0.8319	.	655;655	Q08174;Q08174-2	PCDH1_HUMAN;.	S	655;655;643;666;633	ENSP00000287008:N655S;ENSP00000378043:N655S;ENSP00000403497:N643S;ENSP00000350122:N666S;ENSP00000438825:N633S	ENSP00000287008:N655S	N	-	2	0	PCDH1	141224116	0.358000	0.24947	0.984000	0.44739	0.978000	0.69477	0.726000	0.25984	2.243000	0.73865	0.454000	0.30748	AAC	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	protein_coding	OTTHUMT00000251862.1	T	NM_032420		141224116	-1	no_errors	NM_032420	genbank	human	reviewed	54_36p	missense	SNP	0.993	C
OR2F1	26211	genome.wustl.edu	37	7	143657360	143657360	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:143657360C>T	ENST00000392899.1	+	1	334	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	99					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTGTGCAGCCCAGTTATTTT	0.522																																																0			7											163.0	150.0	155.0					7																	143657360		2203	4297	6500	143288293	SO:0001819	synonymous_variant	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.297C>T	7.37:g.143657360C>T			143288293	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A99	ENST00000392899.1	37	c.297	CCDS5887.1	7																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.522	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	protein_coding	OTTHUMT00000349581.1	C			143288293	+1	no_errors	NM_012369	genbank	human	provisional	54_36p	silent	SNP	0.096	T
NPY5R	4889	genome.wustl.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr4:164272687A>T	ENST00000515560.1	+	4	2784	c.1262A>T	c.(1261-1263)aAt>aTt	p.N421I	NPY5R_ENST00000338566.3_Missense_Mutation_p.N421I|NPY5R_ENST00000506953.1_Missense_Mutation_p.N421I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328																																					Melanoma(139;1287 1774 9781 19750 25599)											0			4											110.0	110.0	110.0					4																	164272687		2202	4300	6502	164492137	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1262A>T	4.37:g.164272687A>T	ENSP00000423917:p.Asn421Ile		164492137	Q6GTR7|Q92916	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.N421I	ENST00000515560.1	37	c.1262	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760220	0.69763	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	D;D;D	0.85702	-2.02;-2.02;-2.02	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.94108	0.8111	M	0.93420	3.415	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95569	0.8636	10	0.87932	D	0	.	14.9133	0.70776	1.0:0.0:0.0:0.0	.	421	Q15761	NPY5R_HUMAN	I	421	ENSP00000339377:N421I;ENSP00000423917:N421I;ENSP00000423474:N421I	ENSP00000339377:N421I	N	+	2	0	NPY5R	164492137	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.876000	0.87215	1.981000	0.57761	0.377000	0.23210	AAT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.328	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	protein_coding	OTTHUMT00000364633.1	A	NM_006174		164492137	+1	no_errors	NM_006174	genbank	human	provisional	54_36p	missense	SNP	0.999	T
ASTN1	460	genome.wustl.edu	37	1	176838036	176838036	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:176838036C>T	ENST00000367654.3	-	22	3826	c.3615G>A	c.(3613-3615)caG>caA	p.Q1205Q	ASTN1_ENST00000361833.2_Silent_p.Q1197Q|ASTN1_ENST00000424564.2_Silent_p.Q1197Q|ASTN1_ENST00000367657.3_Silent_p.Q1197Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1205					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCATAGTGCTGGTTATAGT	0.483																																																0			1											143.0	138.0	139.0					1																	176838036		2203	4300	6503	175104659	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3615G>A	1.37:g.176838036C>T			175104659	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3	p.Q1197	ENST00000367654.3	37	c.3591		1																																																																																			-	NULL		0.483	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319		175104659	-1	no_errors	NM_004319	genbank	human	validated	54_36p	silent	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	2	192568271	192568271	+	IGR	SNP	C	C	A	rs116743625	byFrequency	TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:192568271C>A								NABP1 (6886 upstream) : AC098872.3 (89879 downstream)																							GCAGAGTGCACGGCAGGGACC	0.597													C|||	37	0.00738818	0.0015	0.0159	5008	,	,		20896	0.0		0.0159	False		,,,				2504	0.0082															0			2																																								192276516	SO:0001628	intergenic_variant	0																															2.37:g.192568271C>A			192276516		Missense_Mutation	SNP	NULL	p.R60L		37	c.179		2																																																																																			-	NULL	0	0.597					LOC100132133			C			192276516	-1	no_errors	XM_001717052	genbank	human	model	54_36p	missense	SNP	0.000	A
