#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
OR12D3	81797	genome.wustl.edu	37	6	29342686	29342686	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr6:29342686G>A	ENST00000396806.3	-	1	382	c.379C>T	c.(379-381)Cct>Tct	p.P127S	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	127						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(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAGCGAAGAGGATTGCAGATG	0.493																																																0			6											58.0	59.0	58.0					6																	29342686		1509	2709	4218	29450665	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.379C>T	6.37:g.29342686G>A	ENSP00000380023:p.Pro127Ser		29450665	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P127S	ENST00000396806.3	37	c.379	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579098	0.46006	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01838	4.61	4.18	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12178	0.0296	H	0.96015	3.755	0.39707	D	0.971276	D	0.89917	1.0	D	0.97110	1.0	T	0.07347	-1.0777	9	0.87932	D	0	-6.5976	12.911	0.58181	0.0:0.0:0.8357:0.1643	.	127	Q9UGF7	O12D3_HUMAN	S	127	ENSP00000380023:P127S	ENSP00000366348:P127S	P	-	1	0	OR12D3	29450665	1.000000	0.71417	0.904000	0.35570	0.051000	0.14879	7.026000	0.76455	0.940000	0.37473	0.195000	0.17529	CCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	protein_coding	OTTHUMT00000076056.3	G			29450665	-1	no_errors	NM_030959	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ACTC1	70	genome.wustl.edu	37	15	35085654	35085654	+	Silent	SNP	G	G	A	rs373261583		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:35085654G>A	ENST00000290378.4	-	3	901	c.246C>T	c.(244-246)gaC>gaT	p.D82D	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	82					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTCCATGTCGTCCCAGTTGG	0.577																																																0			15						G		1,4401	2.1+/-5.4	0,1,2200	96.0	82.0	87.0		246	-11.0	0.2	15		87	0,8596		0,0,4298	no	coding-synonymous	ACTC1	NM_005159.4		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		82/378	35085654	1,12997	2201	4298	6499	32872946	SO:0001819	synonymous_variant	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.246C>T	15.37:g.35085654G>A			32872946	P04270	Silent	SNP	superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2	p.D82	ENST00000290378.4	37	c.246	CCDS10041.1	15																																																																																			-	superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268		0.577	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	protein_coding	OTTHUMT00000251876.3	G	NM_005159		32872946	-1	no_errors	NM_005159	genbank	human	reviewed	54_36p	silent	SNP	0.905	A
SLFNL1	200172	genome.wustl.edu	37	1	41486001	41486001	+	Missense_Mutation	SNP	C	C	T	rs368949883		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:41486001C>T	ENST00000359345.1	-	1	2908	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SLFNL1_ENST00000439569.2_Missense_Mutation_p.R111H|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R111H|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R111H|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R111H|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R111H	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	111							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CGTCTGCAGGCGCCAGGGGAG	0.657																																																0			1						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	55.0	54.0		332,332	2.6	1.0	1		54	0,8600		0,0,4300	no	missense,missense	SLFNL1	NM_001168247.1,NM_144990.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	111/408,111/408	41486001	1,13005	2203	4300	6503	41258588	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.332G>A	1.37:g.41486001C>T	ENSP00000352299:p.Arg111His		41258588	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	HMMPfam_AAA_4	p.R111H	ENST00000359345.1	37	c.332	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622321	0.46840	2.27E-4	0.0	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.8	2.56	0.30785	.	0.363325	0.24786	N	0.035617	T	0.40145	0.1105	L	0.53249	1.67	0.33140	D	0.544298	P;B;P	0.44006	0.824;0.414;0.73	B;B;B	0.31101	0.124;0.034;0.034	T	0.56202	-0.8018	10	0.72032	D	0.01	-36.6241	3.0905	0.06293	0.2106:0.5497:0.0:0.2398	.	111;111;111	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	H	111	ENSP00000304401:R111H;ENSP00000361696:R111H;ENSP00000361694:R111H;ENSP00000352299:R111H;ENSP00000398938:R111H;ENSP00000380381:R111H	ENSP00000304401:R111H	R	-	2	0	SLFNL1	41258588	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	1.699000	0.37804	0.791000	0.33826	0.561000	0.74099	CGC	-	NULL		0.657	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41258588	-1	no_errors	NM_144990	genbank	human	provisional	54_36p	missense	SNP	0.996	T
TMEM117	84216	genome.wustl.edu	37	12	44781918	44781918	+	Silent	SNP	G	G	A	rs150882895		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr12:44781918G>A	ENST00000266534.3	+	8	1135	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.P232P|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	336						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATATCGGCCCGGGGCAGAAGA	0.378													g|||	1	0.000199681	0.0	0.0	5008	,	,		17226	0.0		0.001	False		,,,				2504	0.0															0			12						A		0,4406		0,0,2203	49.0	49.0	49.0		1008	-0.1	1.0	12	dbSNP_134	49	1,8597		0,1,4298	no	coding-synonymous	TMEM117	NM_032256.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		336/515	44781918	1,13003	2203	4299	6502	43068185	SO:0001819	synonymous_variant	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1008G>A	12.37:g.44781918G>A			43068185		Silent	SNP	NULL	p.P336	ENST00000266534.3	37	c.1008	CCDS8745.1	12																																																																																			-	NULL		0.378	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	protein_coding	OTTHUMT00000403969.1	G	NM_032256		43068185	+1	no_errors	NM_032256	genbank	human	provisional	54_36p	silent	SNP	0.950	A
VASP	7408	genome.wustl.edu	37	19	46021045	46021045	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr19:46021045G>A	ENST00000245932.6	+	2	486	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	44	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CAACCCCACGGCCAATTCCTT	0.657																																																0			19											60.0	46.0	51.0					19																	46021045		2203	4300	6503	50712885	SO:0001583	missense	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.130G>A	19.37:g.46021045G>A	ENSP00000245932:p.Ala44Thr		50712885	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	HMMPfam_WH1,superfamily_SSF50729,HMMPfam_VASP_tetra	p.A44T	ENST00000245932.6	37	c.130	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686184	0.14973	.	.	ENSG00000125753	ENST00000245932	T	0.46063	0.88	4.75	-0.363	0.12556	EVH1 (3);Pleckstrin homology-type (1);	0.440276	0.22857	N	0.054798	T	0.13286	0.0322	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30592	-0.9973	10	0.10902	T	0.67	-2.7044	6.7246	0.23348	0.5763:0.0:0.4237:0.0	.	44	P50552	VASP_HUMAN	T	44	ENSP00000245932:A44T	ENSP00000245932:A44T	A	+	1	0	VASP	50712885	0.026000	0.19158	0.104000	0.21259	0.032000	0.12392	1.844000	0.39269	0.181000	0.19994	-0.768000	0.03414	GCC	-	HMMPfam_WH1,superfamily_SSF50729		0.657	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	protein_coding	OTTHUMT00000459589.1	G			50712885	+1	no_errors	NM_003370	genbank	human	reviewed	54_36p	missense	SNP	0.957	A
OR4P4	81300	genome.wustl.edu	37	11	55406706	55406706	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr11:55406706G>T	ENST00000314612.2	+	1	873	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAAACACAGAGATGAAGAACG	0.413																																																0			11											130.0	123.0	126.0					11																	55406706		2180	4003	6183	55163282	SO:0001583	missense	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.873G>T	11.37:g.55406706G>T	ENSP00000324831:p.Glu291Asp		55163282		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E291D	ENST00000314612.2	37	c.873	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855020	0.17106	.	.	ENSG00000181927	ENST00000314612	T	0.37411	1.2	5.42	1.38	0.22167	.	0.000000	0.41500	D	0.000863	T	0.16685	0.0401	N	0.10664	0.02	0.28788	N	0.899491	B	0.18461	0.028	B	0.21151	0.033	T	0.11131	-1.0600	10	0.59425	D	0.04	-3.4269	5.7886	0.18347	0.2324:0.0:0.6325:0.1351	.	291	Q8NGL7	OR4P4_HUMAN	D	291	ENSP00000324831:E291D	ENSP00000324831:E291D	E	+	3	2	OR4P4	55163282	1.000000	0.71417	0.990000	0.47175	0.050000	0.14768	0.690000	0.25451	0.258000	0.21686	0.637000	0.83480	GAG	-	superfamily_SSF81321		0.413	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	protein_coding	OTTHUMT00000383356.1	G	NM_001004124		55163282	+1	no_errors	NM_001004124	genbank	human	provisional	54_36p	missense	SNP	0.965	T
GPR56	9289	genome.wustl.edu	37	16	57685510	57685510	+	Missense_Mutation	SNP	G	G	T	rs199910467		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr16:57685510G>T	ENST00000388812.4	+	3	903	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.A155S|GPR56_ENST00000540164.2_Missense_Mutation_p.A155S|GPR56_ENST00000562558.1_Missense_Mutation_p.A155S|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000568908.1_Missense_Mutation_p.A155S|GPR56_ENST00000538815.1_Missense_Mutation_p.A155S|GPR56_ENST00000388813.5_Missense_Mutation_p.A155S|GPR56_ENST00000562631.1_Missense_Mutation_p.A155S|GPR56_ENST00000567835.1_Missense_Mutation_p.A155S|GPR56_ENST00000568909.1_Missense_Mutation_p.A155S|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.A155S			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	155					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCCAGTGCCGCCAGCTTCAC	0.602																																																0			16											29.0	30.0	30.0					16																	57685510		2198	4300	6498	56243011	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.463G>T	16.37:g.57685510G>T	ENSP00000373464:p.Ala155Ser		56243011	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_AMP_BINDING	p.A155S	ENST00000388812.4	37	c.463	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443701	0.01089	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.21	-10.4	0.00318	.	0.935269	0.08946	N	0.870815	T	0.22742	0.0549	L	0.43152	1.355	0.19300	N	0.999979	B;B;B	0.24823	0.014;0.112;0.068	B;B;B	0.20184	0.009;0.028;0.012	T	0.04400	-1.0954	10	0.12430	T	0.62	.	6.0264	0.19658	0.0629:0.1972:0.2396:0.5002	.	160;155;155	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	S	155	ENSP00000373465:A155S;ENSP00000373464:A155S;ENSP00000444415:A155S;ENSP00000398034:A155S;ENSP00000444911:A155S;ENSP00000369018:A155S	ENSP00000369018:A155S	A	+	1	0	GPR56	56243011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.687000	0.01927	-3.253000	0.00204	-2.547000	0.00178	GCC	-	NULL		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	protein_coding	OTTHUMT00000433436.3	G			56243011	+1	no_errors	NM_005682	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
TNFRSF11A	8792	genome.wustl.edu	37	18	60017107	60017107	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr18:60017107G>A	ENST00000586569.1	+	3	258	c.220G>A	c.(220-222)Gat>Aat	p.D74N	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.D74N	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	74					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTGTGGCCCGGATGAATACTT	0.423																																																0			18											193.0	183.0	186.0					18																	60017107		2203	4300	6503	58168087	SO:0001583	missense	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.220G>A	18.37:g.60017107G>A	ENSP00000465500:p.Asp74Asn		58168087	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	superfamily_SSF57586,HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1	p.D74N	ENST00000586569.1	37	c.220	CCDS11980.1	18	.	.	.	.	.	.	.	.	.	.	G	9.999	1.232856	0.22626	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.69685	-0.42	5.33	5.33	0.75918	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.222472	0.46442	D	0.000290	T	0.49321	0.1550	N	0.20610	0.595	0.31960	N	0.608555	B;B	0.23735	0.052;0.09	B;B	0.26310	0.012;0.068	T	0.52624	-0.8551	9	.	.	.	-16.9773	10.4228	0.44361	0.0898:0.0:0.9102:0.0	.	96;74	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	N	96;74	ENSP00000269485:D74N	.	D	+	1	0	TNFRSF11A	58168087	0.998000	0.40836	0.811000	0.32455	0.478000	0.33099	3.827000	0.55745	2.646000	0.89796	0.462000	0.41574	GAT	-	superfamily_SSF57586,HMMSmart_TNFR		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	protein_coding	OTTHUMT00000256186.2	G			58168087	+1	no_errors	NM_003839	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
SLC27A5	10998	genome.wustl.edu	37	19	59021228	59021228	+	Missense_Mutation	SNP	C	C	T	rs201282504		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr19:59021228C>T	ENST00000263093.2	-	3	1152	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G264D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	348					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCTAAGCAGCCGAGGATCCC	0.547																																																0			19											143.0	92.0	110.0					19																	59021228		2203	4300	6503	63713040	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1043G>A	19.37:g.59021228C>T	ENSP00000263093:p.Gly348Asp		63713040	B3KVP6|B4DPQ1	Missense_Mutation	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.G348D	ENST00000263093.2	37	c.1043	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259207	0.59321	.	.	ENSG00000083807	ENST00000263093	T	0.47177	0.85	4.71	4.71	0.59529	AMP-dependent synthetase/ligase (1);	0.210323	0.49916	D	0.000131	T	0.71350	0.3329	M	0.87328	2.875	0.37810	D	0.928002	D	0.76494	0.999	D	0.81914	0.995	T	0.79040	-0.1966	10	0.72032	D	0.01	-12.0505	13.923	0.63945	0.0:1.0:0.0:0.0	.	348	Q9Y2P5	S27A5_HUMAN	D	348	ENSP00000263093:G348D	ENSP00000263093:G348D	G	-	2	0	SLC27A5	63713040	0.994000	0.37717	0.867000	0.34043	0.211000	0.24417	4.410000	0.59774	2.570000	0.86706	0.485000	0.47835	GGC	-	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding		0.547	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	protein_coding	OTTHUMT00000467060.1	C	NM_012254		63713040	-1	no_errors	NM_012254	genbank	human	reviewed	54_36p	missense	SNP	0.968	T
AFTPH	54812	genome.wustl.edu	37	2	64778575	64778575	+	Splice_Site	SNP	A	A	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:64778575A>C	ENST00000422803.1	+	2	282		c.e2-1		AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Splice_Site|AFTPH_ENST00000238856.4_Splice_Site|AFTPH_ENST00000409933.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin						protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTTTTTTACAGGTGTAAATT	0.338																																																0			2											36.0	38.0	37.0					2																	64778575		2078	4251	6329	64632079	SO:0001630	splice_region_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.-32-1A>C	2.37:g.64778575A>C			64632079	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Splice_Site	SNP	-	e1-2	ENST00000422803.1	37	c.1-2		2																																																																																			-	-		0.338	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	protein_coding		A	NM_017657	Intron	64632079	+1	no_errors	NM_203437	genbank	human	validated	54_36p	splice_site	SNP	0.951	C
ASPRV1	151516	genome.wustl.edu	37	2	70188517	70188517	+	Missense_Mutation	SNP	C	C	T	rs149847323		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:70188517C>T	ENST00000320256.4	-	1	880	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTTCCGGGACGAAGGCATGC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17585	0.0		0.001	False		,,,				2504	0.0															0			2						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	55.0	51.0	52.0		304	-7.2	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	102/344	70188517	2,13004	2203	4300	6503	70042021	SO:0001583	missense	151516			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.304G>A	2.37:g.70188517C>T	ENSP00000315383:p.Val102Ile		70042021		Missense_Mutation	SNP	superfamily_Pept_Aspartic,PatternScan_ASP_PROTEASE	p.V102I	ENST00000320256.4	37	c.304	CCDS1897.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.214	-1.034049	0.02029	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.46451	0.87	5.72	-7.24	0.01475	.	1.093400	0.07229	N	0.862191	T	0.23289	0.0563	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25882	-1.0119	10	0.34782	T	0.22	-10.5204	8.1028	0.30868	0.0:0.1998:0.2106:0.5896	.	102	Q53RT3	APRV1_HUMAN	I	102	ENSP00000315383:V102I	ENSP00000315383:V102I	V	-	1	0	ASPRV1	70042021	0.000000	0.05858	0.017000	0.16124	0.047000	0.14425	-2.503000	0.00965	-1.063000	0.03177	-0.812000	0.03155	GTC	-	NULL		0.582	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPRV1	protein_coding	OTTHUMT00000334161.1	C	NM_152792		70042021	-1	no_errors	NM_152792	genbank	human	validated	54_36p	missense	SNP	0.012	T
UBE2Q2	92912	genome.wustl.edu	37	15	76175727	76175727	+	Silent	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:76175727T>C	ENST00000267938.4	+	9	1228	c.846T>C	c.(844-846)ccT>ccC	p.P282P	UBE2Q2_ENST00000569423.1_Silent_p.P247P|UBE2Q2_ENST00000338677.4_Silent_p.P282P|UBE2Q2_ENST00000561851.1_Silent_p.P266P	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	282					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CATTTGATCCTCCATTTGTTC	0.264																																																0			15											65.0	65.0	65.0					15																	76175727		2197	4294	6491	73962782	SO:0001819	synonymous_variant	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.846T>C	15.37:g.76175727T>C			73962782	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con	p.P282	ENST00000267938.4	37	c.846	CCDS10286.1	15																																																																																			-	superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con		0.264	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	protein_coding	OTTHUMT00000286475.1	T	NM_173469		73962782	+1	no_errors	NM_173469	genbank	human	validated	54_36p	silent	SNP	1.000	C
LRRC53	100144878	genome.wustl.edu	37	1	74957819	74957819	+	Intron	SNP	C	C	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:74957819C>T	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Silent_p.L854L|TNNI3K_ENST00000370891.2_Silent_p.L841L|TNNI3K_ENST00000326637.3_Silent_p.L740L			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						GTGGGTCTCTCTCACCTTCTT	0.468																																																0			1											203.0	204.0	204.0					1																	74957819		2203	4300	6503	74730407	SO:0001627	intron_variant	51086					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8760G>A	1.37:g.74957819C>T			74730407		Silent	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP	p.L740	ENST00000294635.4	37	c.2220		1																																																																																			-	NULL		0.468	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	TNNI3K	protein_coding	OTTHUMT00000026515.2	C			74730407	+1	no_errors	NM_015978	genbank	human	validated	54_36p	silent	SNP	0.933	T
SLC28A1	9154	genome.wustl.edu	37	15	85488010	85488010	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:85488010G>A	ENST00000286749.3	+	17	1876	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	SLC28A1_ENST00000538177.1_Missense_Mutation_p.A430T|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A596T|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A596T			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	596					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCCCAGGGGGGCTGAAGTTGA	0.607																																																0			15											94.0	91.0	92.0					15																	85488010		2203	4299	6502	83289014	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1786G>A	15.37:g.85488010G>A	ENSP00000286749:p.Ala596Thr		83289014	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C	p.A596T	ENST00000286749.3	37	c.1786	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658755	0.29515	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.02787	4.16;4.68;4.66;4.66	4.72	-0.478	0.12093	.	1.156670	0.06378	N	0.714677	T	0.03871	0.0109	M	0.68593	2.085	0.09310	N	1	B;B;B	0.15930	0.009;0.001;0.015	B;B;B	0.18561	0.013;0.002;0.022	T	0.50651	-0.8803	10	0.14252	T	0.57	-5.0371	4.4258	0.11501	0.3431:0.2988:0.3581:0.0	.	596;430;596	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	T	430;596;596;596	ENSP00000443752:A430T;ENSP00000444700:A596T;ENSP00000286749:A596T;ENSP00000378074:A596T	ENSP00000286749:A596T	A	+	1	0	SLC28A1	83289014	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.324000	0.07986	-0.258000	0.09446	-0.305000	0.09177	GCT	-	NULL		0.607	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	protein_coding	OTTHUMT00000308998.2	G			83289014	+1	no_errors	NM_004213	genbank	human	validated	54_36p	missense	SNP	0.000	A
RHCG	51458	genome.wustl.edu	37	15	90023525	90023525	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:90023525A>G	ENST00000268122.4	-	4	705	c.637T>C	c.(637-639)Tct>Cct	p.S213P	RHCG_ENST00000544600.1_Missense_Mutation_p.S213P	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	213					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGGTACACAGAATTCTGTCTC	0.552																																																0			15											221.0	195.0	203.0					15																	90023525		2200	4299	6499	87824529	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.637T>C	15.37:g.90023525A>G	ENSP00000268122:p.Ser213Pro		87824529	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)	p.S213P	ENST00000268122.4	37	c.637	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095597	0.36952	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.24538	1.85;1.85	5.34	-1.45	0.08828	Ammonium transporter AmtB-like (3);	0.439851	0.28889	N	0.013811	T	0.25457	0.0619	M	0.79475	2.455	0.58432	D	0.999999	B;B	0.20368	0.044;0.044	B;B	0.29598	0.104;0.104	T	0.03717	-1.1010	9	.	.	.	-0.6148	5.634	0.17526	0.5608:0.2436:0.1956:0.0	.	213;213	A8K4D4;Q9UBD6	.;RHCG_HUMAN	P	213;213;204	ENSP00000438123:S213P;ENSP00000268122:S213P	.	S	-	1	0	RHCG	87824529	0.982000	0.34865	0.004000	0.12327	0.533000	0.34776	2.222000	0.42926	-0.530000	0.06349	0.456000	0.33151	TCT	-	HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)		0.552	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	protein_coding	OTTHUMT00000312855.2	A	NM_016321		87824529	-1	no_errors	NM_016321	genbank	human	provisional	54_36p	missense	SNP	1.000	G
IFI27L1	122509	genome.wustl.edu	37	14	94568222	94568222	+	Missense_Mutation	SNP	G	G	A	rs545021441		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr14:94568222G>A	ENST00000555523.1	+	4	343	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A42T|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A41T|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R64H|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553350.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	42						integral component of membrane (GO:0016021)				lung(2)	2						AGTAGGAATCGCCGCATCCTC	0.602																																																0			14											119.0	94.0	103.0					14																	94568222		2203	4300	6503	93637975	SO:0001583	missense	122509			BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.124G>A	14.37:g.94568222G>A	ENSP00000451851:p.Ala42Thr		93637975		Missense_Mutation	SNP	HMMPfam_Ifi-6-16	p.A42T	ENST00000555523.1	37	c.124	CCDS9919.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.791805|1.791805	0.31685|0.31685	.|.	.|.	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22;1.22|.	3.48|3.48	1.63|1.63	0.23807|0.23807	.|.	0.184948|.	0.33650|.	U|.	0.004686|.	T|T	0.30293|0.30293	0.0760|0.0760	L|L	0.31752|0.31752	0.955|0.955	0.29624|0.29624	N|N	0.845931|0.845931	P|.	0.36647|.	0.563|.	B|.	0.32465|.	0.146|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.46703|.	T|.	0.11|.	.|.	5.5674|5.5674	0.17179|0.17179	0.257:0.0:0.743:0.0|0.257:0.0:0.743:0.0	.|.	42|.	Q96BM0|.	I27L1_HUMAN|.	T|H	42;42;41;41;41;42|64	ENSP00000451851:A42T;ENSP00000376824:A42T;ENSP00000452226:A41T;ENSP00000451459:A41T;ENSP00000451608:A41T;ENSP00000450620:A42T|.	ENSP00000376824:A42T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637975|93637975	0.998000|0.998000	0.40836|0.40836	0.038000|0.038000	0.18304|0.18304	0.003000|0.003000	0.03518|0.03518	2.631000|2.631000	0.46502|0.46502	0.478000|0.478000	0.27488|0.27488	-0.218000|-0.218000	0.12543|0.12543	GCC|CGC	-	HMMPfam_Ifi-6-16		0.602	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI27L1	protein_coding	OTTHUMT00000412868.1	G	NM_206949		93637975	+1	no_errors	NM_145249	genbank	human	validated	54_36p	missense	SNP	0.975	A
NYAP1	222950	genome.wustl.edu	37	7	100082979	100082979	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr7:100082979C>A	ENST00000300179.2	+	2	204	c.45C>A	c.(43-45)caC>caA	p.H15Q	NYAP1_ENST00000423930.1_Missense_Mutation_p.H15Q|AC092849.1_ENST00000583832.1_RNA|NYAP1_ENST00000454988.1_5'Flank	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	15					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAGGCAGCACAAGGAAGAGG	0.662																																																0			7											106.0	87.0	93.0					7																	100082979		2197	4292	6489	99920915	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.45C>A	7.37:g.100082979C>A	ENSP00000300179:p.His15Gln		99920915	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	NULL	p.H15Q	ENST00000300179.2	37	c.45	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532181	0.45073	.	.	ENSG00000166924	ENST00000300179;ENST00000423930	T;T	0.42900	0.96;0.96	4.63	3.75	0.43078	.	0.000000	0.42964	D	0.000632	T	0.34948	0.0915	N	0.22421	0.69	0.31712	N	0.639406	D	0.56968	0.978	P	0.50537	0.643	T	0.42916	-0.9423	10	0.56958	D	0.05	-6.1427	8.0981	0.30840	0.0:0.8918:0.0:0.1082	.	15	Q6ZVC0	CG051_HUMAN	Q	15	ENSP00000300179:H15Q;ENSP00000411861:H15Q	ENSP00000300179:H15Q	H	+	3	2	C7orf51	99920915	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.188000	0.32102	1.170000	0.42753	0.561000	0.74099	CAC	-	NULL		0.662	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf51	protein_coding	OTTHUMT00000339335.2	C	NM_173564		99920915	+1	no_errors	NM_173564	genbank	human	predicted	54_36p	missense	SNP	1.000	A
HPS6	79803	genome.wustl.edu	37	10	103826522	103826522	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr10:103826522A>G	ENST00000299238.5	+	1	1376	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	431					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACACAGCAGCACATTCCGGGC	0.627									Hermansky-Pudlak syndrome																																							0			10											48.0	53.0	51.0					10																	103826522		2203	4300	6503	103816512	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1291A>G	10.37:g.103826522A>G	ENSP00000299238:p.Thr431Ala		103816512	Q5VV69|Q9H685	Missense_Mutation	SNP	NULL	p.T431A	ENST00000299238.5	37	c.1291	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	A	8.269	0.813038	0.16537	.	.	ENSG00000166189	ENST00000299238	T	0.76448	-1.02	5.27	4.14	0.48551	.	0.331135	0.30320	N	0.009886	T	0.64327	0.2588	L	0.34521	1.04	0.22401	N	0.999134	B	0.16396	0.017	B	0.12837	0.008	T	0.47611	-0.9104	10	0.18276	T	0.48	1.2083	9.8315	0.40944	0.8568:0.0:0.1432:0.0	.	431	Q86YV9	HPS6_HUMAN	A	431	ENSP00000299238:T431A	ENSP00000299238:T431A	T	+	1	0	HPS6	103816512	0.717000	0.27966	0.789000	0.31954	0.988000	0.76386	3.383000	0.52471	1.027000	0.39758	0.459000	0.35465	ACA	-	NULL		0.627	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	protein_coding	OTTHUMT00000050018.2	A	NM_024747		103816512	+1	no_errors	NM_024747	genbank	human	reviewed	54_36p	missense	SNP	0.922	G
IFT57	55081	genome.wustl.edu	37	3	107938387	107938387	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:107938387T>G	ENST00000264538.3	-	2	492	c.245A>C	c.(244-246)gAa>gCa	p.E82A		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GTAGAACTGTTCGCCAGGGTT	0.408																																																0			3											97.0	92.0	94.0					3																	107938387		2203	4300	6503	109421077	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.245A>C	3.37:g.107938387T>G	ENSP00000264538:p.Glu82Ala		109421077	Q96DA9	Missense_Mutation	SNP	HMMPfam_IFT57	p.E82A	ENST00000264538.3	37	c.245	CCDS2951.1	3	.	.	.	.	.	.	.	.	.	.	T	32	5.113693	0.94339	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82155	-0.0597	9	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	82	Q9NWB7	IFT57_HUMAN	A	82;113	.	ENSP00000264538:E82A	E	-	2	0	IFT57	109421077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.841000	0.86834	2.371000	0.80710	0.533000	0.62120	GAA	-	HMMPfam_IFT57		0.408	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT57	protein_coding	OTTHUMT00000353918.1	T	NM_018010		109421077	-1	no_errors	NM_018010	genbank	human	validated	54_36p	missense	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114203879	114203879	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr4:114203879A>T	ENST00000357077.4	+	18	1983	c.1930A>T	c.(1930-1932)Ata>Tta	p.I644L	ANK2_ENST00000506722.1_Missense_Mutation_p.I623L|ANK2_ENST00000264366.6_Missense_Mutation_p.I644L|ANK2_ENST00000394537.3_Missense_Mutation_p.I644L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	644					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAATGCAGATAGCTTCCAC	0.408																																																0			4											111.0	94.0	100.0					4																	114203879		2203	4300	6503	114423328	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1930A>T	4.37:g.114203879A>T	ENSP00000349588:p.Ile644Leu		114423328	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.I644L	ENST00000357077.4	37	c.1930	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375584	0.82682	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.68479	-0.33;-0.06;-0.33;-0.33;-0.33;-0.33;-0.33	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000011	T	0.66577	0.2803	L	0.49699	1.58	0.80722	D	1	P;P;B;B;P	0.45569	0.553;0.861;0.078;0.317;0.553	P;P;B;B;P	0.45167	0.466;0.452;0.127;0.193;0.472	T	0.71866	-0.4463	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	644;644;644;623;623	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	L	623;590;623;659;644;644;644;623	ENSP00000423799:I623L;ENSP00000421011:I590L;ENSP00000421067:I623L;ENSP00000424722:I659L;ENSP00000378044:I644L;ENSP00000349588:I644L;ENSP00000264366:I644L	ENSP00000264366:I644L	I	+	1	0	ANK2	114423328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.192000	0.72069	2.031000	0.59945	0.533000	0.62120	ATA	-	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	A	NM_001148		114423328	+1	no_errors	NM_001148	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120475369	120475369	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr9:120475369A>T	ENST00000355622.6	+	3	1064	c.963A>T	c.(961-963)gaA>gaT	p.E321D	TLR4_ENST00000394487.4_Missense_Mutation_p.E281D|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	321					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGACTATTGAAAGGGTAAAAG	0.318																																																0			9											67.0	75.0	72.0					9																	120475369		2203	4299	6502	119515190	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.963A>T	9.37:g.120475369A>T	ENSP00000363089:p.Glu321Asp		119515190	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR	p.E321D	ENST00000355622.6	37	c.963	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	A	2.666	-0.278640	0.05679	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.23147	1.92;1.92	5.78	-11.6	0.00059	.	2.479630	0.01198	N	0.007506	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14144	-1.0483	10	0.11485	T	0.65	.	4.7601	0.13104	0.4943:0.3124:0.1129:0.0804	.	321	O00206	TLR4_HUMAN	D	281;321	ENSP00000377997:E281D;ENSP00000363089:E321D	ENSP00000363089:E321D	E	+	3	2	TLR4	119515190	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.346000	0.00021	-4.384000	0.00052	-1.392000	0.01152	GAA	-	superfamily_L domain-like		0.318	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	protein_coding	OTTHUMT00000055549.3	A	NM_138554		119515190	+1	no_errors	NM_138554	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
SNTB1	6641	genome.wustl.edu	37	8	121823572	121823572	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr8:121823572G>A	ENST00000395601.3	-	2	926	c.512C>T	c.(511-513)gCc>gTc	p.A171V	SNTB1_ENST00000517992.1_Missense_Mutation_p.A171V|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	171	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCGTGGGTGGCGTCCCGCAG	0.687																																																0			8											68.0	70.0	69.0					8																	121823572		2202	4298	6500	121892753	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.512C>T	8.37:g.121823572G>A	ENSP00000378965:p.Ala171Val		121892753	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PH domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PH	p.A171V	ENST00000395601.3	37	c.512	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.741666	0.96873	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.24538	1.85;1.85	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.41632	1.29	0.80722	D	1	D;P	0.69078	0.997;0.889	D;P	0.70935	0.971;0.843	T	0.34453	-0.9828	10	0.56958	D	0.05	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	171;171	Q13884;Q13884-2	SNTB1_HUMAN;.	V	171	ENSP00000378965:A171V;ENSP00000431124:A171V	ENSP00000378965:A171V	A	-	2	0	SNTB1	121892753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.643000	0.98464	2.379000	0.81126	0.561000	0.74099	GCC	-	HMMSmart_SM00233,superfamily_PH domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228		0.687	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	protein_coding	OTTHUMT00000381535.1	G	NM_021021		121892753	-1	no_errors	NM_021021	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIAA0196	9897	genome.wustl.edu	37	8	126059566	126059566	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr8:126059566T>C	ENST00000318410.7	-	20	2736	c.2387A>G	c.(2386-2388)gAt>gGt	p.D796G	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D648G|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	796					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTTGCCAATCTTGAATCTA	0.348																																																0			8											95.0	86.0	89.0					8																	126059566		2203	4300	6503	126128748	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2387A>G	8.37:g.126059566T>C	ENSP00000318016:p.Asp796Gly		126128748	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	HMMPfam_Strumpellin	p.D796G	ENST00000318410.7	37	c.2387	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.075692|4.075692	0.76415|0.76415	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.989;0.997|.	D;D|.	0.79108|.	0.927;0.992|.	T|T	0.75405|0.75405	-0.3329|-0.3329	10|5	0.54805|.	T|.	0.06|.	-22.686|-22.686	15.4301|15.4301	0.75087|0.75087	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	648;796|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	G|V	796;648|413	ENSP00000318016:D796G;ENSP00000429676:D648G|.	ENSP00000318016:D796G|.	D|I	-|-	2|1	0|0	KIAA0196|KIAA0196	126128748|126128748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.028000|8.028000	0.88798|0.88798	2.064000|2.064000	0.61679|0.61679	0.454000|0.454000	0.30748|0.30748	GAT|ATT	-	HMMPfam_Strumpellin		0.348	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	protein_coding	OTTHUMT00000381369.1	T	NM_014846		126128748	-1	no_errors	NM_014846	genbank	human	validated	54_36p	missense	SNP	1.000	C
GLE1	2733	genome.wustl.edu	37	9	131285076	131285076	+	Missense_Mutation	SNP	C	C	T	rs368484174		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr9:131285076C>T	ENST00000309971.4	+	4	668	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.R188W	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	188					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGGACTTGCGGGAAGTAAT	0.468																																																0			9						C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	101.0	81.0	88.0		562,562	2.0	0.0	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GLE1	NM_001003722.1,NM_001499.2	101,101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	188/699,188/660	131285076	3,13003	2203	4300	6503	130324897	SO:0001583	missense	2733			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.562C>T	9.37:g.131285076C>T	ENSP00000308622:p.Arg188Trp		130324897	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	HMMPfam_GLE1	p.R188W	ENST00000309971.4	37	c.562	CCDS35154.1	9	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016505	0.54468	4.54E-4	1.16E-4	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.68025	-0.3;0.11	5.91	1.95	0.26073	.	0.296648	0.41500	D	0.000864	T	0.73442	0.3587	L	0.61218	1.895	0.18873	N	0.999989	D;D	0.89917	0.999;1.0	P;P	0.62740	0.77;0.906	T	0.64407	-0.6415	10	0.87932	D	0	-11.0075	8.2494	0.31708	0.4015:0.5292:0.0:0.0693	.	188;188	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	W	188	ENSP00000308622:R188W;ENSP00000361856:R188W	ENSP00000308622:R188W	R	+	1	2	GLE1	130324897	0.995000	0.38212	0.036000	0.18154	0.879000	0.50718	2.072000	0.41510	0.099000	0.17552	0.650000	0.86243	CGG	-	NULL		0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	protein_coding	OTTHUMT00000054456.1	C	NM_001003722		130324897	+1	no_errors	NM_001003722	genbank	human	reviewed	54_36p	missense	SNP	0.859	T
IFT122	55764	genome.wustl.edu	37	3	129238543	129238543	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:129238543G>A	ENST00000348417.2	+	29	3681	c.3604G>A	c.(3604-3606)Gcc>Acc	p.A1202T	IFT122_ENST00000504021.1_Missense_Mutation_p.A1079T|IFT122_ENST00000347300.2_Missense_Mutation_p.A1143T|IFT122_ENST00000296266.3_Missense_Mutation_p.A1253T|IFT122_ENST00000431818.2_Missense_Mutation_p.A1052T|IFT122_ENST00000349441.2_Missense_Mutation_p.A1092T|IFT122_ENST00000507564.1_Missense_Mutation_p.A1195T|IFT122_ENST00000440957.2_Missense_Mutation_p.A993T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1202					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTGCCTGACGCCTCCATTAC	0.617																																																0			3											138.0	111.0	120.0					3																	129238543		2203	4300	6503	130721233	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3604G>A	3.37:g.129238543G>A	ENSP00000324005:p.Ala1202Thr		130721233	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.A1253T	ENST00000348417.2	37	c.3757	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100857	0.37048	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.60424	0.83;0.19;0.32;0.38;0.97;0.97;0.83;0.39	5.97	5.1	0.69264	.	0.113396	0.64402	D	0.000006	T	0.44705	0.1306	L	0.36672	1.1	0.41605	D	0.988874	B;P;B;B;B;B;B;B;B;B	0.37688	0.014;0.605;0.07;0.062;0.021;0.037;0.01;0.036;0.008;0.116	B;B;B;B;B;B;B;B;B;B	0.31101	0.008;0.124;0.003;0.027;0.007;0.007;0.007;0.01;0.003;0.008	T	0.49322	-0.8952	10	0.56958	D	0.05	-16.4035	12.1598	0.54098	0.1368:0.0:0.8632:0.0	.	993;528;1195;590;1079;1044;1092;1143;1202;1253	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	T	1143;1253;1195;1052;1079;1092;1202;1044;993	ENSP00000323973:A1143T;ENSP00000296266:A1253T;ENSP00000425536:A1195T;ENSP00000410946:A1052T;ENSP00000422179:A1079T;ENSP00000324165:A1092T;ENSP00000324005:A1202T;ENSP00000401569:A993T	ENSP00000296266:A1253T	A	+	1	0	IFT122	130721233	1.000000	0.71417	0.903000	0.35520	0.459000	0.32528	5.688000	0.68227	1.542000	0.49330	0.655000	0.94253	GCC	-	NULL		0.617	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	protein_coding	OTTHUMT00000355852.1	G	NM_018262		130721233	+1	no_errors	NM_052985	genbank	human	reviewed	54_36p	missense	SNP	0.986	A
AFF4	27125	genome.wustl.edu	37	5	132222026	132222026	+	Silent	SNP	T	T	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr5:132222026T>G	ENST00000265343.5	-	18	3454	c.3075A>C	c.(3073-3075)tcA>tcC	p.S1025S		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1025					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGTGTCTTTGAGTACTTCA	0.478																																					Ovarian(126;889 1733 2942 10745 11605)											0			5											165.0	151.0	156.0					5																	132222026		2203	4300	6503	132249925	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3075A>C	5.37:g.132222026T>G			132249925	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	HMMPfam_AF-4	p.S1025	ENST00000265343.5	37	c.3075	CCDS4164.1	5																																																																																			-	HMMPfam_AF-4		0.478	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	protein_coding	OTTHUMT00000133049.1	T	NM_014423		132249925	-1	no_errors	NM_014423	genbank	human	validated	54_36p	silent	SNP	0.991	G
IGSF10	285313	genome.wustl.edu	37	3	151165563	151165563	+	Missense_Mutation	SNP	G	G	A	rs374899455		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:151165563G>A	ENST00000282466.3	-	4	2205	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	736					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCCTAAAACGTCGATGTGTT	0.483																																																0			3						G	CYS/ARG	0,4406		0,0,2203	81.0	71.0	74.0		2206	2.6	0.0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	736/2624	151165563	1,13005	2203	4300	6503	152648253	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2206C>T	3.37:g.151165563G>A	ENSP00000282466:p.Arg736Cys		152648253	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_I-set,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_ig	p.R736C	ENST00000282466.3	37	c.2206	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656956	0.67586	0.0	1.16E-4	ENSG00000152580	ENST00000282466	T	0.80480	-1.38	5.41	2.59	0.31030	.	0.341401	0.21845	N	0.068277	T	0.77350	0.4117	L	0.34521	1.04	0.09310	N	0.999999	D	0.76494	0.999	P	0.56088	0.791	T	0.67166	-0.5739	10	0.62326	D	0.03	.	6.022	0.19634	0.0656:0.108:0.5111:0.3153	.	736	Q6WRI0	IGS10_HUMAN	C	736	ENSP00000282466:R736C	ENSP00000282466:R736C	R	-	1	0	IGSF10	152648253	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	0.845000	0.27668	0.236000	0.21180	0.591000	0.81541	CGT	-	NULL		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	protein_coding	OTTHUMT00000357782.1	G	NM_178822		152648253	-1	no_errors	NM_178822	genbank	human	provisional	54_36p	missense	SNP	0.000	A
IFI16	3428	genome.wustl.edu	37	1	159021646	159021646	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:159021646G>A	ENST00000295809.7	+	10	2098	c.1843G>A	c.(1843-1845)Gtt>Att	p.V615I	IFI16_ENST00000430894.2_Missense_Mutation_p.V563I|IFI16_ENST00000368132.3_Missense_Mutation_p.V559I|IFI16_ENST00000448393.2_Missense_Mutation_p.V503I|IFI16_ENST00000368131.4_Missense_Mutation_p.V559I|IFI16_ENST00000359709.3_Missense_Mutation_p.V559I|IFI16_ENST00000340979.6_Missense_Mutation_p.V503I			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	615	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCGAGTGAAGGTTTTTAATAT	0.418																																																0			1											102.0	103.0	103.0					1																	159021646		2203	4300	6503	157288270	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1843G>A	1.37:g.159021646G>A	ENSP00000295809:p.Val615Ile		157288270	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN	p.V559I	ENST00000295809.7	37	c.1675		1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180832	0.38511	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.85	3.95	0.45737	.	.	.	.	.	T	0.23054	0.0557	M	0.62723	1.935	0.21290	N	0.999734	P;P;P	0.48589	0.532;0.83;0.912	B;B;P	0.52793	0.43;0.219;0.709	T	0.07046	-1.0793	9	0.87932	D	0	.	8.9588	0.35834	0.1002:0.0:0.8998:0.0	.	563;503;559	E7EPR3;Q16666-3;Q16666-2	.;.;.	I	615;503;559;559;563	ENSP00000295809:V615I;ENSP00000342741:V503I;ENSP00000357113:V559I;ENSP00000357114:V559I;ENSP00000394935:V563I	ENSP00000295809:V615I	V	+	1	0	IFI16	157288270	0.999000	0.42202	0.991000	0.47740	0.127000	0.20565	1.463000	0.35277	1.265000	0.44215	0.609000	0.83330	GTT	-	HMMPfam_HIN		0.418	IFI16-013	KNOWN	basic	protein_coding	IFI16	protein_coding	OTTHUMT00000421720.1	G	NM_005531		157288270	+1	no_errors	NM_005531	genbank	human	reviewed	54_36p	missense	SNP	0.992	A
RFWD2	64326	genome.wustl.edu	37	1	175956112	175956112	+	Silent	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:175956112A>G	ENST00000367669.3	-	18	2614	c.2100T>C	c.(2098-2100)gtT>gtC	p.V700V	RFWD2_ENST00000308769.8_Silent_p.V676V	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	700					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACACAGCACTAACAAATTCAT	0.363																																					Ovarian(134;1413 1765 5706 35534 51541)											0			1											114.0	104.0	107.0					1																	175956112		2203	4300	6503	174222735	SO:0001819	synonymous_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2100T>C	1.37:g.175956112A>G			174222735	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.V700	ENST00000367669.3	37	c.2100	CCDS30944.1	1																																																																																			-	superfamily_WD40 repeat-like		0.363	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	protein_coding	OTTHUMT00000084672.2	A	NM_022457		174222735	-1	no_errors	NM_022457	genbank	human	validated	54_36p	silent	SNP	0.977	G
CERKL	375298	genome.wustl.edu	37	2	182409449	182409449	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:182409449C>G	ENST00000339098.5	-	12	1420	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T	CERKL_ENST00000410087.3_Missense_Mutation_p.R448T|CERKL_ENST00000374970.2_Missense_Mutation_p.R379T|CERKL_ENST00000374969.2_Missense_Mutation_p.R335T|CERKL_ENST00000479558.1_5'Flank|CERKL_ENST00000409440.3_Missense_Mutation_p.R430T			Q49MI3	CERKL_HUMAN	ceramide kinase-like	474					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTGGCATATCTTTTCAGGTG	0.299																																																0			2											61.0	62.0	62.0					2																	182409449		2201	4294	6495	182117694	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1421G>C	2.37:g.182409449C>G	ENSP00000341159:p.Arg474Thr		182117694	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	HMMPfam_DAGK_cat	p.R448T	ENST00000339098.5	37	c.1343	CCDS42789.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.318820	0.95682	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.98	5.98	0.97165	.	0.046796	0.85682	D	0.000000	T	0.38719	0.1051	M	0.80982	2.52	0.58432	D	0.999998	D;D;D;D;D	0.67145	0.996;0.989;0.983;0.994;0.99	P;P;P;P;P	0.60117	0.835;0.852;0.755;0.869;0.758	T	0.02484	-1.1152	10	0.33141	T	0.24	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	430;335;379;448;474	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	448;430;335;474;379	ENSP00000386725:R448T;ENSP00000387080:R430T;ENSP00000364108:R335T;ENSP00000341159:R474T;ENSP00000364109:R379T	ENSP00000341159:R474T	R	-	2	0	CERKL	182117694	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.459000	0.80802	2.838000	0.97847	0.655000	0.94253	AGA	-	NULL		0.299	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERKL	protein_coding	OTTHUMT00000334811.1	C			182117694	-1	no_errors	NM_201548	genbank	human	validated	54_36p	missense	SNP	1.000	G
CSRP1	1465	genome.wustl.edu	37	1	201474982	201474982	+	Intron	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:201474982T>C	ENST00000367306.1	-	2	363				CSRP1_ENST00000340006.2_Intron|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000458271.2_Intron|RP11-134G8.7_ENST00000454651.1_RNA|CSRP1_ENST00000526723.1_Intron|CSRP1_ENST00000533432.1_Intron			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1						platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						AAATCCCACCTGGGGAAAATC	0.567																																																0			1																																								199741605	SO:0001627	intron_variant	0			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.0+1215A>G	1.37:g.201474982T>C			199741605	A8K268|Q5U0J2	Silent	SNP	NULL	p.P64	ENST00000367306.1	37	c.192	CCDS1413.1	1																																																																																			-	NULL		0.567	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100130781	protein_coding	OTTHUMT00000087027.1	T	NM_004078		199741605	-1	no_errors	XM_001726764	genbank	human	model	54_36p	silent	SNP	0.003	C
C1orf186	440712	genome.wustl.edu	37	1	206241636	206241636	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:206241636C>G	ENST00000331555.5	-	4	791	c.153G>C	c.(151-153)caG>caC	p.Q51H		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	51						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCTGGGAACCTGGAGACTGG	0.547																																																0			1											72.0	72.0	72.0					1																	206241636		2203	4300	6503	204408259	SO:0001583	missense	440712			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.153G>C	1.37:g.206241636C>G	ENSP00000356093:p.Gln51His		204408259		Missense_Mutation	SNP	NULL	p.Q51H	ENST00000331555.5	37	c.153	CCDS30995.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784996	0.31593	.	.	ENSG00000196533	ENST00000331555	.	.	.	2.91	1.99	0.26369	.	.	.	.	.	T	0.32882	0.0844	L	0.34521	1.04	0.09310	N	1	D	0.54207	0.965	P	0.50192	0.634	T	0.12142	-1.0559	8	0.87932	D	0	-0.6173	5.8835	0.18868	0.0:0.8532:0.0:0.1468	.	51	Q6ZWK4	CA186_HUMAN	H	51	.	ENSP00000356093:Q51H	Q	-	3	2	C1orf186	204408259	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.190000	0.17057	0.786000	0.33708	0.563000	0.77884	CAG	-	NULL		0.547	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf186	protein_coding	OTTHUMT00000088002.1	C	NM_001007544		204408259	-1	no_errors	NM_001007544	genbank	human	predicted	54_36p	missense	SNP	0.003	G
SPAG16	79582	genome.wustl.edu	37	2	214794702	214794702	+	Silent	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:214794702T>C	ENST00000331683.5	+	12	1328	c.1233T>C	c.(1231-1233)acT>acC	p.T411T	SPAG16_ENST00000374309.3_Silent_p.T317T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	411					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATTGGCTACTTCAAGTGGTG	0.378																																																0			2											108.0	107.0	107.0					2																	214794702		2203	4300	6503	214502947	SO:0001819	synonymous_variant	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1233T>C	2.37:g.214794702T>C			214502947	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.T411	ENST00000331683.5	37	c.1233	CCDS2396.1	2																																																																																			-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1		0.378	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	protein_coding	OTTHUMT00000256601.2	T	NM_024532		214502947	+1	no_errors	NM_024532	genbank	human	validated	54_36p	silent	SNP	0.995	C
SP100	6672	genome.wustl.edu	37	2	231371031	231371031	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:231371031G>C	ENST00000264052.5	+	22	2239	c.1884G>C	c.(1882-1884)aaG>aaC	p.K628N	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.K628N|SP100_ENST00000340126.4_Missense_Mutation_p.K628N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	628	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCAAAGAAGTGTATACAGA	0.512																																																0			2											74.0	75.0	75.0					2																	231371031		2203	4300	6503	231079275	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1884G>C	2.37:g.231371031G>C	ENSP00000264052:p.Lys628Asn		231079275	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain	p.K628N	ENST00000264052.5	37	c.1884	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.757400|2.757400	0.49468|0.49468	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	T;T;T|.	0.68479|.	-0.33;-0.33;-0.33|.	4.74|4.74	3.85|3.85	0.44370|0.44370	SAND domain-like (2);SAND domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.67458|0.67458	0.2895|0.2895	M|M	0.90870|0.90870	3.155|3.155	0.20873|0.20873	N|N	0.999836|0.999836	D;D;D|.	0.67145|.	0.98;0.996;0.99|.	P;D;D|.	0.67382|.	0.814;0.951;0.947|.	T|T	0.61505|0.61505	-0.7049|-0.7049	9|5	0.87932|.	D|.	0|.	.|.	10.3048|10.3048	0.43674|0.43674	0.0:0.0:0.803:0.197|0.0:0.0:0.803:0.197	.|.	628;628;628|.	P23497-4;P23497;E7EUA7|.	.;SP100_HUMAN;.|.	N|L	628;628;628;111|15	ENSP00000264052:K628N;ENSP00000386427:K628N;ENSP00000343023:K628N|.	ENSP00000264052:K628N|.	K|V	+|+	3|1	2|0	SP100|SP100	231079275|231079275	0.848000|0.848000	0.29623|0.29623	0.002000|0.002000	0.10522|0.10522	0.072000|0.072000	0.16883|0.16883	1.427000|1.427000	0.34881|0.34881	1.317000|1.317000	0.45149|0.45149	0.655000|0.655000	0.94253|0.94253	AAG|GTG	-	superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258		0.512	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231079275	+1	no_errors	NM_001080391	genbank	human	validated	54_36p	missense	SNP	0.001	C
