#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
SLC4A11	83959	genome.wustl.edu	37	20	3211161	3211161	+	Splice_Site	SNP	C	C	A	rs121909393		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr20:3211161C>A	ENST00000380056.3	-	11	1510	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Splice_Site_p.R515M|SLC4A11_ENST00000539553.2_Splice_Site_p.R472M	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	488	Membrane (bicarbonate transporter).		R -> K (in CDPD). {ECO:0000269|PubMed:17220209}.		bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCAGTCACCTCTTGAAGAG	0.562																																					NSCLC(190;922 2139 10266 10292 38692)											0			20	GRCh37	CM072051	SLC4A11	M	rs121909393						82.0	83.0	83.0					20																	3211161		2203	4300	6503	3159161	SO:0001630	splice_region_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1463+1G>T	20.37:g.3211161C>A			3159161	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp	p.R488M	ENST00000380056.3	37	c.1463	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795898	0.90453	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.83673	-1.75;-1.75;-1.75	5.07	5.07	0.68467	Bicarbonate transporter, C-terminal (1);	0.048890	0.85682	D	0.000000	D	0.93304	0.7866	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.94820	0.7986	9	.	.	.	.	18.037	0.89307	0.0:1.0:0.0:0.0	.	472;515;488	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	M	515;488;472	ENSP00000369399:R515M;ENSP00000369396:R488M;ENSP00000441370:R472M	.	R	-	2	0	SLC4A11	3159161	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.563000	0.82314	2.342000	0.79632	0.563000	0.77884	AGG	-	HMMPfam_HCO3_cotransp		0.562	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	protein_coding	OTTHUMT00000077728.1	C		Missense_Mutation	3159161	-1	no_errors	NM_032034	genbank	human	validated	54_36p	missense	SNP	1.000	A
INSL6	11172	genome.wustl.edu	37	9	5185596	5185596	+	Silent	SNP	G	G	T	rs373690238		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:5185596G>T	ENST00000381641.3	-	1	72	c.7C>A	c.(7-9)Cgg>Agg	p.R3R		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	3					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R3W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CGGAGGAGCCGCGGCATCCCT	0.667																																																1	Substitution - Missense(1)	large_intestine(1)	9											26.0	24.0	24.0					9																	5185596		2201	4300	6501	5175596	SO:0001819	synonymous_variant	11172			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.7C>A	9.37:g.5185596G>T			5175596	A0AVS0|Q9NS16	Silent	SNP	superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_IlGF,PatternScan_INSULIN	p.R3	ENST00000381641.3	37	c.7	CCDS6458.1	9																																																																																			-	NULL		0.667	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL6	protein_coding	OTTHUMT00000051608.3	G	NM_007179		5175596	-1	no_errors	NM_007179	genbank	human	reviewed	54_36p	silent	SNP	0.005	T
FUT3	2525	genome.wustl.edu	37	19	5844007	5844007	+	Missense_Mutation	SNP	C	C	T	rs551619908		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:5844007C>T	ENST00000303225.6	-	3	1478	c.844G>A	c.(844-846)Gag>Aag	p.E282K	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.E282K|FUT3_ENST00000589918.1_Missense_Mutation_p.E282K|FUT3_ENST00000458379.2_Missense_Mutation_p.E282K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	282					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGAACCTCTCGTAGTTGCTT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(82;745 1728 24593 44831)											0			19											12.0	14.0	13.0					19																	5844007		2177	4235	6412	5795007	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.844G>A	19.37:g.5844007C>T	ENSP00000305603:p.Glu282Lys		5795007	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	HMMPfam_Glyco_transf_10	p.E282K	ENST00000303225.6	37	c.844	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354642	0.41700	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.27104	1.69;1.69	2.29	1.1	0.20463	.	0.000000	0.64402	D	0.000018	T	0.42494	0.1205	M	0.65975	2.015	0.38890	D	0.957092	D;D;D;D	0.89917	1.0;0.99;0.999;0.99	D;D;D;D	0.97110	1.0;0.949;0.972;0.949	T	0.28038	-1.0056	10	0.52906	T	0.07	.	7.6868	0.28544	0.0:0.8482:0.0:0.1518	.	282;282;282;282	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	K	282	ENSP00000305603:E282K;ENSP00000416443:E282K	ENSP00000305603:E282K	E	-	1	0	FUT3	5795007	1.000000	0.71417	0.001000	0.08648	0.065000	0.16274	4.407000	0.59754	0.213000	0.20722	0.194000	0.17425	GAG	-	HMMPfam_Glyco_transf_10		0.657	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	protein_coding	OTTHUMT00000452204.1	C	NM_000149		5795007	-1	no_errors	NM_000149	genbank	human	reviewed	54_36p	missense	SNP	0.924	T
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517845	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.807	T
STXBP2	6813	genome.wustl.edu	37	19	7711161	7711161	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:7711161G>T	ENST00000221283.5	+	16	1414	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	STXBP2_ENST00000414284.2_Missense_Mutation_p.E458D|STXBP2_ENST00000441779.2_Missense_Mutation_p.E472D|STXBP2_ENST00000602355.1_5'UTR	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	461					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCGGCTGGAGCCGAGAGAAC	0.672																																																0			19											33.0	29.0	31.0					19																	7711161		2203	4299	6502	7617161	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1383G>T	19.37:g.7711161G>T	ENSP00000221283:p.Glu461Asp		7617161	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1	p.E461D	ENST00000221283.5	37	c.1383	CCDS12181.1	19	.	.	.	.	.	.	.	.	.	.	G	6.527	0.465449	0.12402	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.76839	-1.05;-1.05;-1.05	4.31	1.97	0.26223	.	0.419662	0.24242	N	0.040243	T	0.59183	0.2175	L	0.28400	0.85	0.33850	D	0.632546	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12837	0.008;0.008;0.005;0.008	T	0.53422	-0.8441	10	0.10636	T	0.68	-2.9323	6.6188	0.22792	0.1072:0.1817:0.711:0.0	.	472;472;458;461	E7EQD5;B4E175;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	D	461;458;472;461	ENSP00000221283:E461D;ENSP00000409471:E458D;ENSP00000413606:E472D	ENSP00000221283:E461D	E	+	3	2	STXBP2	7617161	0.497000	0.26067	1.000000	0.80357	0.349000	0.29174	0.229000	0.17833	0.956000	0.37904	0.555000	0.69702	GAG	-	superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1		0.672	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	protein_coding	OTTHUMT00000460963.1	G	NM_006949		7617161	+1	no_errors	NM_006949	genbank	human	validated	54_36p	missense	SNP	0.909	T
PTPRD	5789	genome.wustl.edu	37	9	8317907	8317907	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:8317907C>A	ENST00000381196.4	-	43	6249	c.5706G>T	c.(5704-5706)gaG>gaT	p.E1902D	PTPRD_ENST00000360074.4_Missense_Mutation_p.E1889D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1880D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1496D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1495D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1495D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1902D|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1902D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1495D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1492D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1492D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1902	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCCCAGGTACTCTAGTGCGG	0.443										TSP Lung(15;0.13)																																						0			9											140.0	144.0	143.0					9																	8317907		2203	4299	6502	8307907	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5706G>T	9.37:g.8317907C>A	ENSP00000370593:p.Glu1902Asp		8307907	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.E1902D	ENST00000381196.4	37	c.5706	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873488	0.33069	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.07	-0.328	0.12690	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.67625	2.065	0.51012	D	0.999908	P;P;P;P;B;P;P;D;P	0.55385	0.749;0.749;0.749;0.749;0.234;0.705;0.831;0.971;0.916	P;P;P;P;B;P;P;D;P	0.74348	0.879;0.879;0.879;0.879;0.223;0.808;0.651;0.983;0.806	D	0.87527	0.2450	10	0.72032	D	0.01	.	10.7252	0.46064	0.0:0.3453:0.0:0.6547	.	1495;1486;1495;1496;1492;1492;1889;1902;1902	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	1902;1902;1889;1880;1496;1495;1492;1492;1373;1902;1495;1495	ENSP00000370593:E1902D;ENSP00000348812:E1902D;ENSP00000353187:E1889D;ENSP00000351293:E1880D;ENSP00000347373:E1496D;ENSP00000380741:E1495D;ENSP00000380735:E1492D;ENSP00000440515:E1492D;ENSP00000438164:E1902D;ENSP00000417093:E1495D;ENSP00000380731:E1495D	ENSP00000340918:E1373D	E	-	3	2	PTPRD	8307907	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.383000	0.20651	0.031000	0.15407	0.655000	0.94253	GAG	-	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	C			8307907	-1	no_errors	NM_002839	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SLC45A1	50651	genome.wustl.edu	37	1	8404039	8404039	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:8404039A>T	ENST00000471889.1	+	9	2598	c.2213A>T	c.(2212-2214)gAc>gTc	p.D738V	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D738V|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D772V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	738					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GACGCTGCAGACGAGGAGCAC	0.627																																																0			1											77.0	64.0	68.0					1																	8404039		2203	4300	6503	8326626	SO:0001583	missense	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2213A>T	1.37:g.8404039A>T	ENSP00000418096:p.Asp738Val		8326626	Q5VY46|Q5VY49	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1	p.D738V	ENST00000471889.1	37	c.2213	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	A	8.593	0.884995	0.17540	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19394	2.17;2.15;2.17	5.1	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);	0.727267	0.13793	N	0.362366	T	0.12475	0.0303	N	0.14661	0.345	0.23773	N	0.996885	B	0.02656	0.0	B	0.04013	0.001	T	0.21314	-1.0249	10	0.62326	D	0.03	-15.503	7.2003	0.25877	0.5749:0.2935:0.0:0.1316	.	738	Q9Y2W3	S45A1_HUMAN	V	738;772;738	ENSP00000418096:D738V;ENSP00000366699:D772V;ENSP00000289877:D738V	ENSP00000289877:D738V	D	+	2	0	SLC45A1	8326626	0.005000	0.15991	0.093000	0.20910	0.276000	0.26787	1.179000	0.31993	0.782000	0.33613	0.454000	0.30748	GAC	-	superfamily_MFS general substrate transporter		0.627	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	protein_coding	OTTHUMT00000001245.5	A			8326626	+1	no_errors	NM_001080397	genbank	human	provisional	54_36p	missense	SNP	0.056	T
WWC3	55841	genome.wustl.edu	37	X	10085348	10085348	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:10085348C>T	ENST00000380861.4	+	11	1640	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	WWC3_ENST00000454666.1_Missense_Mutation_p.P417S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	417	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGACCTCATTCCCTTCGACTC	0.657													C|||	1	0.000264901	0.0	0.0014	3775	,	,		12767	0.0		0.0	False		,,,				2504	0.0															0			X											74.0	70.0	72.0					X																	10085348		2203	4300	6503	10045348	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1249C>T	X.37:g.10085348C>T	ENSP00000370242:p.Pro417Ser		10045348	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.P417S	ENST00000380861.4	37	c.1249	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765307	0.69878	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.05649	3.41;3.41	5.43	5.43	0.79202	.	0.116836	0.56097	D	0.000022	T	0.25269	0.0614	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	10	0.14252	T	0.57	-28.6964	18.464	0.90749	0.0:1.0:0.0:0.0	.	417	Q9ULE0	WWC3_HUMAN	S	417;417;81;417	ENSP00000370242:P417S;ENSP00000399584:P417S	ENSP00000370242:P417S	P	+	1	0	WWC3	10045348	1.000000	0.71417	0.644000	0.29465	0.205000	0.24178	7.623000	0.83113	2.303000	0.77524	0.464000	0.42555	CCC	-	NULL		0.657	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	protein_coding	OTTHUMT00000055725.1	C	NM_015691		10045348	+1	no_errors	NM_015691	genbank	human	validated	54_36p	missense	SNP	0.979	T
SEC13	6396	genome.wustl.edu	37	3	10345775	10345775	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:10345775C>G	ENST00000350697.3	-	8	915	c.790G>C	c.(790-792)Gtg>Ctg	p.V264L	SEC13_ENST00000337354.4_Missense_Mutation_p.V267L|SEC13_ENST00000397117.1_Missense_Mutation_p.V250L|SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000383801.2_Missense_Mutation_p.V310L|SEC13_ENST00000397109.3_Missense_Mutation_p.V250L	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCCACACCACATCGTTGAAC	0.502																																																0			3											173.0	114.0	134.0					3																	10345775		2203	4300	6503	10320775	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.790G>C	3.37:g.10345775C>G	ENSP00000312122:p.Val264Leu		10320775	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like	p.V264L	ENST00000350697.3	37	c.790	CCDS2599.1	3	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367892	0.61513	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;T;T	0.81247	-0.13;-0.13;-0.13;-1.47;-1.47	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.88906	2.99	0.80722	D	1	P;P;P;D	0.52996	0.703;0.523;0.868;0.957	B;B;P;P	0.52793	0.292;0.128;0.585;0.709	D	0.89504	0.3766	10	0.46703	T	0.11	.	16.137	0.81492	0.0:1.0:0.0:0.0	.	264;250;310;264	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	L	250;267;264;250;310	ENSP00000380298:V250L;ENSP00000336566:V267L;ENSP00000312122:V264L;ENSP00000380306:V250L;ENSP00000373312:V310L	ENSP00000336566:V267L	V	-	1	0	SEC13	10320775	1.000000	0.71417	0.948000	0.38648	0.904000	0.53231	7.691000	0.84191	2.392000	0.81423	0.591000	0.81541	GTG	-	superfamily_WD40_like,HMMPfam_WD40,HMMSmart_WD40		0.502	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	protein_coding	OTTHUMT00000250563.3	C			10320775	-1	no_errors	NM_183352	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PDE4A	5141	genome.wustl.edu	37	19	10565567	10565567	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:10565567G>C	ENST00000352831.6	+	7	956	c.846G>C	c.(844-846)caG>caC	p.Q282H	PDE4A_ENST00000344979.3_Missense_Mutation_p.Q43H|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q260H|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q260H|PDE4A_ENST00000440014.2_Missense_Mutation_p.Q221H|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q256H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	282					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGGAAACCAGGTCTCAGAGT	0.532																																																0			19											132.0	110.0	117.0					19																	10565567		2203	4300	6503	10426567	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.846G>C	19.37:g.10565567G>C	ENSP00000270474:p.Gln282His		10426567	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.Q43H	ENST00000352831.6	37	c.129	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925807	0.73213	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.73047	-0.71;-0.69;-0.7;-0.67;-0.29	4.59	1.29	0.21616	.	0.410669	0.23249	N	0.050275	T	0.81978	0.4937	M	0.92122	3.275	0.46749	D	0.999182	P;P;P;B	0.39094	0.659;0.659;0.537;0.352	P;P;P;P	0.52066	0.622;0.467;0.689;0.491	T	0.81111	-0.1081	10	0.87932	D	0	.	7.8182	0.29271	0.2783:0.0:0.7217:0.0	.	43;221;256;282	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	H	260;282;256;221;43	ENSP00000370078:Q260H;ENSP00000270474:Q282H;ENSP00000293683:Q256H;ENSP00000394754:Q221H;ENSP00000341007:Q43H	ENSP00000293683:Q256H	Q	+	3	2	PDE4A	10426567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.340000	0.43974	0.275000	0.22094	0.603000	0.83216	CAG	-	NULL		0.532	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	G			10426567	+1	no_errors	NM_006202	genbank	human	validated	54_36p	missense	SNP	1.000	C
DNASE2	1777	genome.wustl.edu	37	19	12986952	12986952	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:12986952A>C	ENST00000222219.3	-	6	1027	c.935T>G	c.(934-936)aTg>aGg	p.M312R	DNASE2_ENST00000538460.1_Missense_Mutation_p.M257R	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	312					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GTTCCGATTCATGTCACCCAC	0.612																																																0			19											66.0	59.0	61.0					19																	12986952		2203	4300	6503	12847952	SO:0001583	missense	1777			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.935T>G	19.37:g.12986952A>C	ENSP00000222219:p.Met312Arg		12847952	B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	HMMPfam_DNase_II,PatternScan_AKH	p.M312R	ENST00000222219.3	37	c.935	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348916	0.61183	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.14391	2.51;2.51	4.99	4.99	0.66335	.	0.133611	0.64402	D	0.000003	T	0.37598	0.1009	M	0.84948	2.725	0.49687	D	0.999816	D;D	0.67145	0.996;0.99	P;P	0.62089	0.898;0.871	T	0.35450	-0.9788	10	0.62326	D	0.03	-27.7785	12.6431	0.56720	1.0:0.0:0.0:0.0	.	257;312	B7Z4K6;O00115	.;DNS2A_HUMAN	R	312;257	ENSP00000222219:M312R;ENSP00000445988:M257R	ENSP00000222219:M312R	M	-	2	0	DNASE2	12847952	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.265000	0.72534	1.886000	0.54624	0.379000	0.24179	ATG	-	HMMPfam_DNase_II		0.612	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE2	protein_coding	OTTHUMT00000451790.1	A			12847952	-1	no_errors	NM_001375	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	18	14361655	14361655	+	IGR	SNP	G	G	C	rs530940393|rs386801499	byFrequency	TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr18:14361655G>C								CYP4F35P (19132 upstream) : CXADRP3 (116298 downstream)																							TGCCAGCCTCGAGCCCCAGCA	0.701																																																0			18																																								14351655	SO:0001628	intergenic_variant	729774																															18.37:g.14361655G>C			14351655		Silent	SNP	NULL	p.L108		37	c.324		18																																																																																			-	NULL	0	0.701					LOC729774			G			14351655	-1	no_errors	XM_001131264	genbank	human	model	54_36p	silent	SNP	0.000	C
CELA2A	63036	genome.wustl.edu	37	1	15793896	15793896	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:15793896C>A	ENST00000359621.4	+	7	680	c.655C>A	c.(655-657)Cca>Aca	p.P219T	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCTGGCGGGCCACTGAACTG	0.577																																																0			1											55.0	55.0	55.0					1																	15793896		2203	4300	6503	15666483	SO:0001583	missense	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.655C>A	1.37:g.15793896C>A	ENSP00000352639:p.Pro219Thr		15666483	B2R5I4|Q14243	Missense_Mutation	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.P219T	ENST00000359621.4	37	c.655	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198138	0.38806	.	.	ENSG00000142615	ENST00000359621	D	0.98701	-5.08	3.08	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	U	0.000027	D	0.99363	0.9776	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98444	1.0588	10	0.87932	D	0	.	12.796	0.57560	0.0:1.0:0.0:0.0	.	219	P08217	CEL2A_HUMAN	T	219	ENSP00000352639:P219T	ENSP00000352639:P219T	P	+	1	0	CELA2A	15666483	1.000000	0.71417	0.180000	0.23079	0.011000	0.07611	7.312000	0.78968	1.552000	0.49463	0.313000	0.20887	CCA	-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER		0.577	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELA2A	protein_coding	OTTHUMT00000006445.1	C	NM_033440		15666483	+1	no_errors	NM_033440	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IL17RA	23765	genome.wustl.edu	37	22	17590378	17590378	+	Missense_Mutation	SNP	G	G	A	rs573583763		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr22:17590378G>A	ENST00000319363.6	+	13	2402	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	757					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTCGCTCTTCGAGCAGAGTCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14815	0.0		0.0	False		,,,				2504	0.001															0			22											20.0	20.0	20.0					22																	17590378		2201	4299	6500	15970378	SO:0001583	missense	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2269G>A	22.37:g.17590378G>A	ENSP00000320936:p.Glu757Lys		15970378	O43844|Q20WK1	Missense_Mutation	SNP	HMMPfam_SEFIR	p.E757K	ENST00000319363.6	37	c.2269	CCDS13739.1	22	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501618	0.85176	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05382	3.45	4.07	0.528	0.17089	.	0.328806	0.26227	N	0.025599	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B;B	0.24882	0.113;0.113	B;B	0.17098	0.017;0.011	T	0.33777	-0.9855	10	0.72032	D	0.01	-13.966	10.3371	0.43856	0.1387:0.4101:0.4511:0.0	.	705;757	D3YTB4;Q96F46	.;I17RA_HUMAN	K	705;757	ENSP00000320936:E757K	ENSP00000320936:E757K	E	+	1	0	IL17RA	15970378	0.224000	0.23674	0.081000	0.20488	0.253000	0.25986	0.464000	0.21988	-0.127000	0.11661	-0.216000	0.12614	GAG	-	NULL		0.652	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	protein_coding	OTTHUMT00000315820.1	G	NM_014339		15970378	+1	no_errors	NM_014339	genbank	human	reviewed	54_36p	missense	SNP	0.078	A
GATA6	2627	genome.wustl.edu	37	18	19762737	19762737	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr18:19762737T>C	ENST00000269216.3	+	5	1725	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T	GATA6_ENST00000581694.1_Missense_Mutation_p.M483T|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	483					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCACTTGCTATGAAAAAAGAG	0.323																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)											0			18											52.0	54.0	53.0					18																	19762737		2203	4299	6502	18016735	SO:0001583	missense	2627			U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1448T>C	18.37:g.19762737T>C	ENSP00000269216:p.Met483Thr		18016735	B0YJ17|P78327	Missense_Mutation	SNP	HMMPfam_GATA-N,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA	p.M483T	ENST00000269216.3	37	c.1448	CCDS11872.1	18	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602878	0.66445	.	.	ENSG00000141448	ENST00000269216	D	0.99663	-6.33	5.97	5.97	0.96955	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.121190	0.85682	D	0.000000	D	0.99651	0.9871	M	0.89214	3.015	0.80722	D	1	D	0.63046	0.992	D	0.69824	0.966	D	0.97744	1.0210	10	0.87932	D	0	-5.8643	16.4452	0.83925	0.0:0.0:0.0:1.0	.	483	Q92908	GATA6_HUMAN	T	483	ENSP00000269216:M483T	ENSP00000269216:M483T	M	+	2	0	GATA6	18016735	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	ATG	-	HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain)		0.323	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA6	protein_coding	OTTHUMT00000254696.1	T	NM_005257		18016735	+1	no_errors	NM_005257	genbank	human	validated	54_36p	missense	SNP	1.000	C
MACC1	346389	genome.wustl.edu	37	7	20198696	20198696	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:20198696G>T	ENST00000400331.5	-	5	1596	c.1288C>A	c.(1288-1290)Cca>Aca	p.P430T	MACC1_ENST00000589011.1_Missense_Mutation_p.P430T|MACC1_ENST00000332878.4_Missense_Mutation_p.P430T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	430					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAATCTTGTGGCTTGTCAAGT	0.373																																																0			7											49.0	46.0	47.0					7																	20198696		2202	4299	6501	20165221	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1288C>A	7.37:g.20198696G>T	ENSP00000383185:p.Pro430Thr		20165221	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	HMMPfam_SH3_2,superfamily_DEATH domain	p.P430T	ENST00000400331.5	37	c.1288	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452073	0.43531	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12361	2.69;2.69	5.72	5.72	0.89469	.	0.180736	0.51477	D	0.000083	T	0.32346	0.0826	M	0.80746	2.51	0.40594	D	0.981511	D	0.63880	0.993	P	0.53954	0.738	T	0.08432	-1.0722	10	0.62326	D	0.03	-14.07	14.6826	0.69028	0.0:0.0:0.8549:0.1451	.	430	Q6ZN28	MACC1_HUMAN	T	430	ENSP00000383185:P430T;ENSP00000328410:P430T	ENSP00000328410:P430T	P	-	1	0	MACC1	20165221	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.683000	0.61679	2.689000	0.91719	0.591000	0.81541	CCA	-	NULL		0.373	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	protein_coding	OTTHUMT00000250202.5	G	NM_182762		20165221	-1	no_errors	NM_182762	genbank	human	validated	54_36p	missense	SNP	0.994	T
PDE3A	5139	genome.wustl.edu	37	12	20769280	20769280	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:20769280C>T	ENST00000359062.3	+	4	1426	c.1386C>T	c.(1384-1386)cgC>cgT	p.R462R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	462					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGAGAGACCGCAGCACCAGCA	0.532																																																0			12											123.0	106.0	112.0					12																	20769280		2203	4300	6503	20660547	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1386C>T	12.37:g.20769280C>T			20660547	O60865|Q13348|Q17RD1	Silent	SNP	superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.R462	ENST00000359062.3	37	c.1386	CCDS31754.1	12																																																																																			-	NULL		0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	protein_coding	OTTHUMT00000401756.2	C			20660547	+1	no_errors	NM_000921	genbank	human	validated	54_36p	silent	SNP	0.941	T
SLCO1B1	10599	genome.wustl.edu	37	12	21331541	21331541	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:21331541G>T	ENST00000256958.2	+	6	609	c.513G>T	c.(511-513)tgG>tgT	p.W171C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	171					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.W171C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CATACATGTGGATATATGTGT	0.338																																																1	Substitution - Missense(1)	lung(1)	12											138.0	130.0	133.0					12																	21331541		2203	4300	6503	21222808	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.513G>T	12.37:g.21331541G>T	ENSP00000256958:p.Trp171Cys		21222808	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2	p.W171C	ENST00000256958.2	37	c.513	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042685	0.35989	.	.	ENSG00000134538	ENST00000256958	T	0.40756	1.02	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81426	-0.0938	10	0.87932	D	0	.	15.813	0.78578	0.0:0.0:1.0:0.0	.	171	Q9Y6L6	SO1B1_HUMAN	C	171	ENSP00000256958:W171C	ENSP00000256958:W171C	W	+	3	0	SLCO1B1	21222808	1.000000	0.71417	0.936000	0.37596	0.118000	0.20060	9.007000	0.93597	2.018000	0.59344	0.313000	0.20887	TGG	-	superfamily_MFS general substrate transporter,HMMPfam_OATP		0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	G	NM_006446		21222808	+1	no_errors	NM_006446	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SLC22A17	51310	genome.wustl.edu	37	14	23818562	23818562	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:23818562C>A	ENST00000206544.8	-	3	781	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	SLC22A17_ENST00000397267.1_Missense_Mutation_p.G149C|SLC22A17_ENST00000397260.3_Missense_Mutation_p.G38C|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Missense_Mutation_p.G149C	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	149					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGAGGAGCCTGCAGCAGCC	0.617																																																0			14											44.0	44.0	44.0					14																	23818562		2203	4299	6502	22888402	SO:0001583	missense	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.445G>T	14.37:g.23818562C>A	ENSP00000206544:p.Gly149Cys		22888402	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1,PatternScan_AA_TRNA_LIGASE_I	p.G149C	ENST00000206544.8	37	c.445	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464296	0.63513	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.61	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164275	0.43416	D	0.000561	T	0.60248	0.2254	L	0.46157	1.445	0.37039	D	0.897057	B;D;B	0.62365	0.047;0.991;0.014	B;P;B	0.56163	0.055;0.793;0.006	T	0.66909	-0.5804	10	0.72032	D	0.01	-13.4996	8.2148	0.31505	0.0:0.8138:0.0:0.1862	.	149;149;149	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	C	149;38;149;149	ENSP00000346824:G149C;ENSP00000380430:G38C;ENSP00000206544:G149C;ENSP00000380437:G149C	ENSP00000206544:G149C	G	-	1	0	SLC22A17	22888402	0.988000	0.35896	0.997000	0.53966	0.982000	0.71751	1.930000	0.40124	1.159000	0.42565	0.462000	0.41574	GGC	-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	protein_coding	OTTHUMT00000157223.3	C	NM_020372		22888402	-1	no_errors	NM_020372	genbank	human	provisional	54_36p	missense	SNP	0.826	A
GRHL3	57822	genome.wustl.edu	37	1	24671394	24671394	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:24671394C>G	ENST00000350501.5	+	12	1554	c.1427C>G	c.(1426-1428)cCc>cGc	p.P476R	GRHL3_ENST00000342072.4_Missense_Mutation_p.P383R|GRHL3_ENST00000236255.4_Missense_Mutation_p.P481R|GRHL3_ENST00000356046.2_Missense_Mutation_p.P430R|GRHL3_ENST00000361548.4_Missense_Mutation_p.P476R	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	476					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGCAGCCCCCTCGGCAGGA	0.572																																																0			1											110.0	108.0	109.0					1																	24671394		2203	4300	6503	24543981	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1427C>G	1.37:g.24671394C>G	ENSP00000288955:p.Pro476Arg		24543981	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	HMMPfam_CP2	p.P481R	ENST00000350501.5	37	c.1442	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217378	0.09810	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11712	2.93;2.75;2.91;2.93;2.93	5.04	3.17	0.36434	.	0.860585	0.10440	N	0.674427	T	0.09468	0.0233	L	0.36672	1.1	0.35729	D	0.817764	B;B;B	0.27416	0.047;0.178;0.178	B;B;B	0.26864	0.02;0.074;0.047	T	0.16958	-1.0385	10	0.30854	T	0.27	-1.3132	8.3224	0.32136	0.0:0.8129:0.0:0.1871	.	430;481;476	A2A297;Q8TE85-2;G3XAF0	.;.;.	R	476;383;476;430;481	ENSP00000354943:P476R;ENSP00000340543:P383R;ENSP00000288955:P476R;ENSP00000348333:P430R;ENSP00000236255:P481R	ENSP00000236255:P481R	P	+	2	0	GRHL3	24543981	0.000000	0.05858	0.183000	0.23137	0.407000	0.30961	0.501000	0.22578	0.800000	0.34041	0.655000	0.94253	CCC	-	NULL		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	protein_coding	OTTHUMT00000009047.2	C	NM_021180		24543981	+1	no_errors	NM_021180	genbank	human	reviewed	54_36p	missense	SNP	0.041	G
TCF23	150921	genome.wustl.edu	37	2	27375665	27375665	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:27375665C>A	ENST00000296096.5	+	3	705	c.575C>A	c.(574-576)tCc>tAc	p.S192Y		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	192					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGTGGGGTCCCAAGTCCCT	0.547																																																0			2											109.0	107.0	108.0					2																	27375665		2203	4300	6503	27229169	SO:0001583	missense	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.575C>A	2.37:g.27375665C>A	ENSP00000296096:p.Ser192Tyr		27229169	B2RNZ3	Missense_Mutation	SNP	superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH	p.S192Y	ENST00000296096.5	37	c.575	CCDS33163.1	2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993357	0.35131	.	.	ENSG00000163792	ENST00000296096	D	0.97575	-4.44	5.02	3.15	0.36227	.	1.037420	0.07582	N	0.920442	D	0.93556	0.7943	L	0.36672	1.1	0.09310	N	1	P	0.42785	0.79	B	0.38500	0.275	D	0.88020	0.2768	10	0.51188	T	0.08	0.1221	5.6194	0.17450	0.1974:0.7024:0.0:0.1002	.	192	Q7RTU1	TCF23_HUMAN	Y	192	ENSP00000296096:S192Y	ENSP00000296096:S192Y	S	+	2	0	TCF23	27229169	0.002000	0.14202	0.017000	0.16124	0.017000	0.09413	1.655000	0.37345	1.205000	0.43262	0.655000	0.94253	TCC	-	NULL		0.547	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF23	protein_coding	OTTHUMT00000324980.1	C	NM_175769		27229169	+1	no_errors	NM_175769	genbank	human	provisional	54_36p	missense	SNP	0.015	A
HIRIP3	8479	genome.wustl.edu	37	16	30002839	30002839	+	IGR	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr16:30002839A>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.T1034S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGCCGCAGCACCAGTGTCGC	0.687																																																0			16											6.0	4.0	5.0					16																	30002839		1907	3737	5644	29910340	SO:0001628	intergenic_variant	9344			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002839A>T			29910340	H3BSR3|O75707|O75708	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.T1034S	ENST00000279392.3	37	c.3100	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	a	14.04	2.417677	0.42918	.	.	ENSG00000149930	ENST00000279394	T	0.74315	-0.83	4.74	4.74	0.60224	.	.	.	.	.	T	0.70133	0.3189	L	0.55481	1.735	0.80722	D	1	P	0.42827	0.791	B	0.44133	0.442	T	0.69304	-0.5180	8	.	.	.	.	8.5102	0.33213	0.9087:0.0:0.0913:0.0	.	1034	Q9UL54-2	.	S	1034	ENSP00000279394:T1034S	.	T	+	1	0	TAOK2	29910340	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.272000	0.51616	1.988000	0.58038	0.529000	0.55759	ACC	-	NULL		0.687	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK2	protein_coding	OTTHUMT00000255160.2	A	NM_003609		29910340	+1	no_errors	NM_004783	genbank	human	validated	54_36p	missense	SNP	1.000	T
PRR14	78994	genome.wustl.edu	37	16	30666310	30666310	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr16:30666310C>A	ENST00000542965.2	+	7	1475	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.P340H			Q9BWN1	PRR14_HUMAN	proline rich 14	340	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTGGGGCCCCCTGGCCCAGGT	0.682																																																0			16											40.0	43.0	42.0					16																	30666310		2197	4300	6497	30573811	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1019C>A	16.37:g.30666310C>A	ENSP00000441641:p.Pro340His		30573811	Q8WTX2	Missense_Mutation	SNP	NULL	p.P340H	ENST00000542965.2	37	c.1019	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263107	0.59431	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.63096	-0.02;-0.02	5.55	2.49	0.30216	.	0.236936	0.29964	N	0.010756	T	0.68897	0.3051	M	0.64997	1.995	0.29947	N	0.820569	D	0.61697	0.99	P	0.60473	0.875	T	0.65800	-0.6080	10	0.66056	D	0.02	0.222	6.9553	0.24568	0.0:0.6991:0.143:0.1579	.	340	Q9BWN1	PRR14_HUMAN	H	313;340;340	ENSP00000300835:P340H;ENSP00000441641:P340H	ENSP00000287463:P313H	P	+	2	0	PRR14	30573811	0.966000	0.33281	0.967000	0.41034	0.985000	0.73830	0.870000	0.28010	0.288000	0.22398	0.655000	0.94253	CCT	-	NULL		0.682	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	protein_coding	OTTHUMT00000434433.1	C	NM_024031		30573811	+1	no_errors	NM_024031	genbank	human	provisional	54_36p	missense	SNP	0.512	A
PDE1C	5137	genome.wustl.edu	37	7	31862710	31862710	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:31862710C>G	ENST00000396191.1	-	14	2014	c.1559G>C	c.(1558-1560)aGa>aCa	p.R520T	PDE1C_ENST00000396184.3_Missense_Mutation_p.R520T|PDE1C_ENST00000321453.7_Missense_Mutation_p.R520T|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.R520T|PDE1C_ENST00000396193.1_Missense_Mutation_p.R580T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	520	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GGCCCTCCATCTCTCCCGATT	0.463																																																0			7											201.0	175.0	184.0					7																	31862710		2203	4300	6503	31829235	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1559G>C	7.37:g.31862710C>G	ENSP00000379494:p.Arg520Thr		31829235	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.R520T	ENST00000396191.1	37	c.1559	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233331	0.39498	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73047	-0.71;-0.7;-0.7;-0.68;-0.68	5.79	4.91	0.64330	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.594286	0.19153	N	0.121383	T	0.56659	0.2000	L	0.27053	0.805	0.30959	N	0.723915	B;B;B	0.15719	0.004;0.014;0.002	B;B;B	0.21917	0.037;0.006;0.001	T	0.58891	-0.7556	10	0.62326	D	0.03	.	7.1892	0.25816	0.0:0.7172:0.0:0.2828	.	520;580;520	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	580;520;520;520;520	ENSP00000379496:R580T;ENSP00000379494:R520T;ENSP00000318105:R520T;ENSP00000379487:R520T;ENSP00000379485:R520T	ENSP00000318105:R520T	R	-	2	0	PDE1C	31829235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.365000	0.52335	1.458000	0.47871	0.563000	0.77884	AGA	-	NULL		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	C			31829235	-1	no_errors	NM_005020	genbank	human	provisional	54_36p	missense	SNP	0.998	G
SOD1	6647	genome.wustl.edu	37	21	33038773	33038773	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr21:33038773G>C	ENST00000270142.6	+	3	329	c.181G>C	c.(181-183)Gca>Cca	p.A61P	SOD1_ENST00000389995.4_Missense_Mutation_p.A42P|SOD1_ENST00000470944.1_3'UTR|AP000254.8_ENST00000609934.1_RNA|SNORA81_ENST00000458922.1_RNA	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	61					activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	CTGTACCAGTGCAGGTCCTCA	0.363																																																0			21											59.0	55.0	57.0					21																	33038773		2203	4300	6503	31960644	SO:0001583	missense	6647			AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.181G>C	21.37:g.33038773G>C	ENSP00000270142:p.Ala61Pro		31960644	A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Missense_Mutation	SNP	HMMPfam_Sod_Cu,superfamily_CuZn superoxide dismutase-like,PatternScan_SOD_CU_ZN_1,PatternScan_SOD_CU_ZN_2	p.A61P	ENST00000270142.6	37	c.181	CCDS33536.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.188179	0.94923	.	.	ENSG00000142168	ENST00000270142;ENST00000389995	D;D	0.99727	-6.55;-6.55	5.2	5.2	0.72013	Superoxide dismutase, copper/zinc binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99859	4.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96121	0.9085	10	0.87932	D	0	-17.0872	19.2916	0.94102	0.0:0.0:1.0:0.0	.	61	P00441	SODC_HUMAN	P	61;42	ENSP00000270142:A61P;ENSP00000374645:A42P	ENSP00000270142:A61P	A	+	1	0	SOD1	31960644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.952000	0.93031	2.861000	0.98227	0.655000	0.94253	GCA	-	HMMPfam_Sod_Cu,superfamily_CuZn superoxide dismutase-like		0.363	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD1	protein_coding	OTTHUMT00000192585.2	G	NM_000454		31960644	+1	no_errors	NM_000454	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	16	33380054	33380054	+	IGR	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr16:33380054C>A								RP11-23E10.4 (13241 upstream) : BMS1P8 (117108 downstream)																							CAAGGAAGAGCTGGAGGGGCT	0.547																																																0			16																																								33287555	SO:0001628	intergenic_variant	647211																															16.37:g.33380054C>A			33287555		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.547					LOC647211			C			33287555	+1	pseudogene	XR_017499	genbank	human	model	54_36p	rna	SNP	1.000	A
PHC2	1912	genome.wustl.edu	37	1	33790577	33790577	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:33790577G>C	ENST00000257118.5	-	14	2519	c.2466C>G	c.(2464-2466)gaC>gaG	p.D822E	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.D428E|PHC2_ENST00000431992.1_Missense_Mutation_p.D793E|PHC2_ENST00000419414.2_Missense_Mutation_p.D823E|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.D287E	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	822	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCTTGCCCGTCGATTTCCT	0.597																																																0			1											66.0	58.0	61.0					1																	33790577		2203	4300	6503	33563164	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2466C>G	1.37:g.33790577G>C	ENSP00000257118:p.Asp822Glu		33563164	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.D822E	ENST00000257118.5	37	c.2466	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963897	0.53507	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.73	0.782	0.18567	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78262	-0.2272	10	0.87932	D	0	-20.886	8.8049	0.34932	0.7183:0.0:0.2817:0.0	.	823;794;822	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	E	793;822;428;287;398;823	ENSP00000389436:D793E;ENSP00000257118:D822E;ENSP00000362521:D428E;ENSP00000362517:D287E;ENSP00000391440:D823E	ENSP00000257118:D822E	D	-	3	2	PHC2	33563164	0.103000	0.21917	0.960000	0.40013	0.651000	0.38670	-0.460000	0.06720	-0.088000	0.12506	-0.140000	0.14226	GAC	-	superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1		0.597	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33563164	-1	no_errors	NM_198040	genbank	human	reviewed	54_36p	missense	SNP	0.994	C
MEIS2	4212	genome.wustl.edu	37	15	37390358	37390358	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:37390358C>G	ENST00000561208.1	-	2	473	c.55G>C	c.(55-57)Gtt>Ctt	p.V19L	MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.V6L|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.V19L|MEIS2_ENST00000559085.1_Missense_Mutation_p.V6L|MEIS2_ENST00000559561.1_Missense_Mutation_p.V19L|MEIS2_ENST00000444725.1_Missense_Mutation_p.V19L|MEIS2_ENST00000424352.2_Missense_Mutation_p.V19L|MEIS2_ENST00000397620.2_5'UTR|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000557796.2_Missense_Mutation_p.V6L|MEIS2_ENST00000382766.2_Missense_Mutation_p.V19L			O14770	MEIS2_HUMAN	Meis homeobox 2	19					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGCGGGAACCCCTACTCCG	0.682																																																0			15											21.0	24.0	23.0					15																	37390358		2201	4297	6498	35177650	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.55G>C	15.37:g.37390358C>G	ENSP00000453793:p.Val19Leu		35177650	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox	p.V19L	ENST00000561208.1	37	c.55	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427628	0.43122	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.24920	0.001;0.002;0.001;0.001;0.114;0.0	B;B;B;B;B;B	0.18561	0.002;0.005;0.005;0.002;0.022;0.002	T	0.05386	-1.0888	10	0.15952	T	0.53	-11.4218	18.5803	0.91168	0.0:1.0:0.0:0.0	.	6;19;19;19;19;6	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	L	19;19;19;19;19;6;6	ENSP00000326296:V19L;ENSP00000341400:V19L;ENSP00000372216:V19L;ENSP00000404185:V19L;ENSP00000391887:V19L;ENSP00000339549:V6L	ENSP00000326296:V19L	V	-	1	0	MEIS2	35177650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.322000	0.52007	2.457000	0.83068	0.655000	0.94253	GTT	-	NULL		0.682	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	protein_coding	OTTHUMT00000252003.2	C	NM_170677		35177650	-1	no_errors	NM_170675	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
IL7R	3575	genome.wustl.edu	37	5	35871304	35871304	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr5:35871304A>T	ENST00000303115.3	+	4	655	c.526A>T	c.(526-528)Aac>Tac	p.N176Y	IL7R_ENST00000506850.1_Missense_Mutation_p.N176Y|IL7R_ENST00000343305.4_Missense_Mutation_p.N176Y	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	176	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAAGGATGAAAACAAATGGAC	0.368			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0			5											67.0	67.0	67.0					5																	35871304		2203	4300	6503	35907061	SO:0001583	missense	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.526A>T	5.37:g.35871304A>T	ENSP00000306157:p.Asn176Tyr		35907061	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1	p.N176Y	ENST00000303115.3	37	c.526	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525139	0.27299	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.75367	-0.93;-0.93;-0.93	5.41	1.54	0.23209	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.518711	0.20781	N	0.085781	T	0.61098	0.2320	L	0.51422	1.61	0.09310	N	1	P;P	0.51933	0.764;0.949	B;B	0.39840	0.168;0.311	T	0.56792	-0.7920	10	0.54805	T	0.06	2.9797	4.2989	0.10915	0.6299:0.1701:0.2:0.0	.	176;176	D6RGV2;P16871	.;IL7RA_HUMAN	Y	176	ENSP00000306157:N176Y;ENSP00000345819:N176Y;ENSP00000421207:N176Y	ENSP00000306157:N176Y	N	+	1	0	IL7R	35907061	0.025000	0.19082	0.036000	0.18154	0.757000	0.42996	0.078000	0.14761	0.332000	0.23536	0.533000	0.62120	AAC	-	superfamily_Fibronectin type III,HMMPfam_fn3		0.368	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	protein_coding	OTTHUMT00000207577.2	A			35907061	+1	no_errors	NM_002185	genbank	human	reviewed	54_36p	missense	SNP	0.641	T
TTI1	9675	genome.wustl.edu	37	20	36640088	36640088	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr20:36640088G>C	ENST00000373448.2	-	3	2369	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	TTI1_ENST00000373447.3_Missense_Mutation_p.L711V|TTI1_ENST00000487362.1_5'Flank|TTI1_ENST00000449821.1_Missense_Mutation_p.L711V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	711					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGGATGCAGAGCCAGATGA	0.493																																																0			20											80.0	67.0	71.0					20																	36640088		2203	4300	6503	36073502	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2131C>G	20.37:g.36640088G>C	ENSP00000362547:p.Leu711Val		36073502	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L711V	ENST00000373448.2	37	c.2131	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	1.838	-0.468094	0.04476	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.61040	0.14;0.14;0.14	5.23	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.559807	0.18838	N	0.129760	T	0.45597	0.1350	L	0.50333	1.59	0.09310	N	1	B	0.19583	0.037	B	0.20577	0.03	T	0.28004	-1.0057	10	0.15066	T	0.55	-3.4292	6.3845	0.21554	0.1559:0.0:0.696:0.1482	.	711	O43156	TTI1_HUMAN	V	711	ENSP00000362547:L711V;ENSP00000362546:L711V;ENSP00000407270:L711V	ENSP00000362546:L711V	L	-	1	2	TTI1	36073502	1.000000	0.71417	0.703000	0.30354	0.850000	0.48378	4.684000	0.61686	1.436000	0.47453	0.655000	0.94253	CTG	-	superfamily_ARM-type_fold		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0406	protein_coding	OTTHUMT00000079138.2	G	NM_014657		36073502	-1	no_errors	NM_014657	genbank	human	predicted	54_36p	missense	SNP	0.999	C
EML4	27436	genome.wustl.edu	37	2	42490350	42490350	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:42490350A>G	ENST00000318522.5	+	5	807	c.545A>G	c.(544-546)cAt>cGt	p.H182R	EML4_ENST00000402711.2_Missense_Mutation_p.H124R|EML4_ENST00000401738.3_Missense_Mutation_p.H182R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	182					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GAAAAGTCACATAATTCTTGG	0.323			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0			2											80.0	78.0	79.0					2																	42490350		2203	4300	6503	42343854	SO:0001583	missense	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.545A>G	2.37:g.42490350A>G	ENSP00000320663:p.His182Arg		42343854	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	HMMPfam_HELP,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_EF_HAND_1,PatternScan_TRYPSIN_SER,PatternScan_WD_REPEATS_1,PatternScan_HIS_ACID_PHOSPHAT_2	p.H182R	ENST00000318522.5	37	c.545	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	a	10.24	1.296297	0.23650	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.61158	1.17;1.31;0.13	5.36	1.54	0.23209	.	0.305840	0.30329	N	0.009870	T	0.33323	0.0859	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05257	-1.0896	10	0.13108	T	0.6	-8.9716	4.7944	0.13265	0.6919:0.1139:0.0723:0.1218	.	124;182	B5MCW9;Q9HC35	.;EMAL4_HUMAN	R	182;124;182	ENSP00000320663:H182R;ENSP00000385059:H124R;ENSP00000384939:H182R	ENSP00000320663:H182R	H	+	2	0	EML4	42343854	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.953000	0.40352	0.885000	0.36088	0.456000	0.33151	CAT	-	NULL		0.323	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	protein_coding	OTTHUMT00000250463.3	A	NM_019063		42343854	+1	no_errors	NM_019063	genbank	human	validated	54_36p	missense	SNP	0.990	G
CASC4	113201	genome.wustl.edu	37	15	44624251	44624251	+	Missense_Mutation	SNP	C	C	G	rs144203071		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:44624251C>G	ENST00000345795.2	+	4	821	c.551C>G	c.(550-552)gCa>gGa	p.A184G	CASC4_ENST00000299957.6_Missense_Mutation_p.A184G|CASC4_ENST00000360824.3_Intron	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	184						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AAAAAGTTAGCAGACCAGTTT	0.234																																																0			15											46.0	51.0	49.0					15																	44624251		2198	4297	6495	42411543	SO:0001583	missense	113201			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.551C>G	15.37:g.44624251C>G	ENSP00000335063:p.Ala184Gly		42411543	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.A184G	ENST00000345795.2	37	c.551	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643858	0.67244	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.84516	-1.86;-1.86	5.21	5.21	0.72293	.	0.240683	0.42294	D	0.000733	D	0.83216	0.5206	L	0.56769	1.78	0.80722	D	1	B;P;P	0.50272	0.266;0.933;0.911	B;P;B	0.45794	0.091;0.493;0.442	T	0.80892	-0.1179	10	0.27082	T	0.32	.	11.7168	0.51659	0.1762:0.8238:0.0:0.0	.	184;184;184	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	G	184;184;163	ENSP00000299957:A184G;ENSP00000335063:A184G	ENSP00000299957:A184G	A	+	2	0	CASC4	42411543	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.966000	0.29331	2.601000	0.87937	0.655000	0.94253	GCA	-	NULL		0.234	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	protein_coding	OTTHUMT00000253816.1	C	NM_138423		42411543	+1	no_errors	NM_138423	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
NKTR	4820	genome.wustl.edu	37	3	42680198	42680198	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:42680198A>G	ENST00000232978.8	+	13	3190	c.3002A>G	c.(3001-3003)aAa>aGa	p.K1001R	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1001	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAGGGAAAAAAGACAAAAAG	0.398																																																0			3											60.0	64.0	63.0					3																	42680198		2203	4300	6503	42655202	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3002A>G	3.37:g.42680198A>G	ENSP00000232978:p.Lys1001Arg		42655202		Missense_Mutation	SNP	superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1	p.K1001R	ENST00000232978.8	37	c.3002	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372928	0.42105	.	.	ENSG00000114857	ENST00000232978	T	0.16743	2.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.74881	2.28	0.80722	D	1	P;P	0.51537	0.946;0.615	B;B	0.43155	0.41;0.1	T	0.06356	-1.0831	10	0.44086	T	0.13	-22.7367	15.0398	0.71781	1.0:0.0:0.0:0.0	.	701;1001	Q6M1B8;P30414	.;NKTR_HUMAN	R	1001	ENSP00000232978:K1001R	ENSP00000232978:K1001R	K	+	2	0	NKTR	42655202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.794000	0.62482	2.096000	0.63516	0.528000	0.53228	AAA	-	NULL		0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	protein_coding	OTTHUMT00000256642.2	A	NM_005385		42655202	+1	no_errors	NM_005385	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GABRA4	2557	genome.wustl.edu	37	4	46976321	46976321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:46976321C>A	ENST00000264318.3	-	6	1631	c.649G>T	c.(649-651)Gag>Tag	p.E217*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	217					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGAAGACTCCTTCGGAACT	0.403																																					Ovarian(6;283 369 8234 12290 33402)											0			4											122.0	112.0	116.0					4																	46976321		2203	4300	6503	46671078	SO:0001587	stop_gained	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.649G>T	4.37:g.46976321C>A	ENSP00000264318:p.Glu217*		46671078	Q8IYR7	Nonsense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.E217*	ENST00000264318.3	37	c.649	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.826595	0.99699	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.22	0.89898	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000264318:E217X	E	-	1	0	GABRA4	46671078	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.774000	0.95407	0.650000	0.86243	GAG	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.403	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	C			46671078	-1	no_errors	NM_000809	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
EFCAB14	9813	genome.wustl.edu	37	1	47162270	47162270	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:47162270C>A	ENST00000371933.3	-	4	1508	c.532G>T	c.(532-534)Gct>Tct	p.A178S	EFCAB14_ENST00000484461.1_5'Flank|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A178S	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	178							calcium ion binding (GO:0005509)										AAGTCTGCAGCTGACTTAACA	0.438																																																0			1											189.0	164.0	172.0					1																	47162270		2203	4300	6503	46934857	SO:0001583	missense	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.532G>T	1.37:g.47162270C>A	ENSP00000361001:p.Ala178Ser		46934857	D3DQ23|Q5SXB8	Missense_Mutation	SNP	PatternScan_EF_HAND_1	p.A178S	ENST00000371933.3	37	c.532	CCDS30706.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797591	0.90538	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	D;D	0.95756	-3.8;-3.8	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	M	0.65498	2.005	0.53688	D	0.999977	D;D;D;D	0.69078	0.971;0.993;0.993;0.997	P;P;P;P	0.61800	0.654;0.879;0.879;0.894	D	0.96166	0.9119	10	0.42905	T	0.14	-0.6397	18.2118	0.89872	0.0:1.0:0.0:0.0	.	34;178;178;178	B7Z3D1;F5H7K3;B7Z444;O75071	.;.;.;K0494_HUMAN	S	178	ENSP00000442465:A178S;ENSP00000361001:A178S	ENSP00000361001:A178S	A	-	1	0	KIAA0494	46934857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.836000	0.97738	0.655000	0.94253	GCT	-	NULL		0.438	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0494	protein_coding	OTTHUMT00000021931.1	C	NM_014774		46934857	-1	no_errors	NM_014774	genbank	human	validated	54_36p	missense	SNP	0.999	A
PSG1	5669	genome.wustl.edu	37	19	43375948	43375948	+	Missense_Mutation	SNP	C	C	T	rs539827933		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:43375948C>T	ENST00000436291.2	-	3	796	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.R227H|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000244296.2_Missense_Mutation_p.R227H|PSG1_ENST00000595356.1_Missense_Mutation_p.R227H	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	227	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.537													.|||	1	0.000199681	0.0	0.0	5008	,	,		20222	0.001		0.0	False		,,,				2504	0.0															0			19											183.0	194.0	190.0					19																	43375948		2200	4296	6496	48067788	SO:0001583	missense	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.680G>A	19.37:g.43375948C>T	ENSP00000413041:p.Arg227His		48067788	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.R227H	ENST00000436291.2	37	c.680	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	7.728	0.698549	0.15106	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12672	2.66;2.66;2.66	1.64	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14743	0.0356	L	0.60067	1.865	0.09310	N	1	B;B;B;B;B;B;B;B	0.32128	0.266;0.127;0.279;0.065;0.357;0.026;0.04;0.194	B;B;B;B;B;B;B;B	0.39217	0.294;0.073;0.159;0.049;0.13;0.031;0.097;0.063	T	0.32824	-0.9892	9	0.46703	T	0.11	.	4.5869	0.12287	0.0:0.623:0.0:0.377	.	227;227;227;227;227;99;227;227	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	H	227	ENSP00000413041:R227H;ENSP00000308970:R227H;ENSP00000244296:R227H	ENSP00000244296:R227H	R	-	2	0	PSG1	48067788	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	-1.442000	0.02407	-0.442000	0.07190	0.184000	0.17185	CGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.537	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	C			48067788	-1	no_errors	NM_006905	genbank	human	provisional	54_36p	missense	SNP	0.005	T
USP8	9101	genome.wustl.edu	37	15	50769603	50769603	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:50769603G>A	ENST00000396444.3	+	10	1463	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	USP8_ENST00000425032.3_Silent_p.L298L|USP8_ENST00000307179.4_Silent_p.L375L|USP8_ENST00000433963.1_Silent_p.L375L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	375					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGGGACCACTGAATATATCAA	0.398																																																0			15											99.0	101.0	100.0					15																	50769603		2196	4294	6490	48556895	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1125G>A	15.37:g.50769603G>A			48556895	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	HMMPfam_DUF1873,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.L375	ENST00000396444.3	37	c.1125	CCDS10137.1	15																																																																																			-	NULL		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	G	NM_005154		48556895	+1	no_errors	NM_005154	genbank	human	validated	54_36p	silent	SNP	0.001	A
KCNRG	283518	genome.wustl.edu	37	13	50589816	50589816	+	Missense_Mutation	SNP	G	G	T	rs367947576		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr13:50589816G>T	ENST00000312942.1	+	1	427	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_Missense_Mutation_p.D63Y	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	63	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTTCATCTTAGATTTTTTGAG	0.393																																																0			13											150.0	154.0	153.0					13																	50589816		2203	4300	6503	49487817	SO:0001583	missense	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.187G>T	13.37:g.50589816G>T	ENSP00000324191:p.Asp63Tyr		49487817	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra	p.D63Y	ENST00000312942.1	37	c.187	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072200	0.76415	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.46451	0.87;0.87	5.98	5.98	0.97165	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.064498	0.64402	D	0.000006	T	0.62672	0.2447	L	0.56199	1.76	0.53005	D	0.999965	D;D	0.64830	0.994;0.97	D;P	0.68943	0.961;0.79	T	0.61642	-0.7021	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	63;63	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	Y	63	ENSP00000353661:D63Y;ENSP00000324191:D63Y	ENSP00000324191:D63Y	D	+	1	0	KCNRG	49487817	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.064000	0.76721	2.838000	0.97847	0.655000	0.94253	GAT	-	superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra		0.393	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	protein_coding	OTTHUMT00000276308.1	G			49487817	+1	no_errors	NM_173605	genbank	human	validated	54_36p	missense	SNP	1.000	T
BCL3	602	genome.wustl.edu	37	19	45260367	45260367	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:45260367G>A	ENST00000164227.5	+	4	857	c.613G>A	c.(613-615)Ggc>Agc	p.G205S		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	205					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGACCGCCATGGCCAGACGGC	0.701			T	IGH@	CLL																																		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0			19											16.0	12.0	13.0					19																	45260367		2129	4172	6301	49952207	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.613G>A	19.37:g.45260367G>A	ENSP00000164227:p.Gly205Ser		49952207		Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.G197S	ENST00000164227.5	37	c.589	CCDS12642.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.306660|5.306660	0.95629|0.95629	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000403534;ENST00000164227|ENST00000444487	T|.	0.73681|.	-0.77|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.41097|.	D|.	0.000952|.	T|.	0.52092|.	0.1713|.	N|N	0.24115|0.24115	0.695|0.695	0.49687|0.49687	D|D	0.999816|0.999816	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.48625|.	-0.9019|.	10|.	0.87932|.	D|.	0|.	-16.7676|-16.7676	15.3744|15.3744	0.74593|0.74593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205|.	P20749|.	BCL3_HUMAN|.	S|X	165;205|88	ENSP00000164227:G205S|.	ENSP00000164227:G205S|.	G|W	+|+	1|2	0|0	BCL3|BCL3	49952207|49952207	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	7.871000|7.871000	0.87180|0.87180	2.207000|2.207000	0.71202|0.71202	0.305000|0.305000	0.20034|0.20034	GGC|TGG	-	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank		0.701	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	protein_coding	OTTHUMT00000322976.1	G	NM_005178		49952207	+1	no_errors	NM_005178	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DYNAP	284254	genome.wustl.edu	37	18	52262336	52262336	+	Splice_Site	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr18:52262336T>A	ENST00000321600.1	+	2	346		c.e2+2		DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein						activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AACACACAGGTAATGTGTAGC	0.418																																																0			18											103.0	99.0	101.0					18																	52262336		2203	4300	6503	50413334	SO:0001630	splice_region_variant	284254			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.300+2T>A	18.37:g.52262336T>A			50413334		Splice_Site	SNP	-	e2+2	ENST00000321600.1	37	c.300+2	CCDS11957.1	18	.	.	.	.	.	.	.	.	.	.	.	9.119	1.008422	0.19199	.	.	ENSG00000178690	ENST00000321600	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2594	0.43416	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C18orf26	50413334	1.000000	0.71417	0.994000	0.49952	0.039000	0.13416	3.291000	0.51764	2.197000	0.70478	0.533000	0.62120	.	-	-		0.418	DYNAP-001	KNOWN	basic|CCDS	protein_coding	C18orf26	protein_coding	OTTHUMT00000256007.1	T	NM_173629	Intron	50413334	+1	no_errors	NM_173629	genbank	human	predicted	54_36p	splice_site	SNP	0.917	A
ABHD14A	25864	genome.wustl.edu	37	3	52014934	52014934	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:52014934A>T	ENST00000273596.3	+	5	784	c.716A>T	c.(715-717)cAc>cTc	p.H239L	ACY1_ENST00000458031.2_Intron|ACY1_ENST00000494103.1_5'Flank|ABHD14A_ENST00000491470.1_Missense_Mutation_p.T122S|ACY1_ENST00000476854.1_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000476351.1_5'Flank|ABHD14B_ENST00000483233.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	239						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCCAACCACTCTGTGGTG	0.582																																																0			3											118.0	94.0	102.0					3																	52014934		2203	4300	6503	51989974	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.716A>T	3.37:g.52014934A>T	ENSP00000273596:p.His239Leu		51989974	Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	superfamily_SSF53474	p.H239L	ENST00000273596.3	37	c.716	CCDS2843.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.09|14.09	2.430950|2.430950	0.43122|0.43122	.|.	.|.	ENSG00000248487|ENSG00000248487	ENST00000273596;ENST00000360889;ENST00000452452|ENST00000491470	T|T	0.21543|0.32515	2.0|1.45	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	P|.	0.47545|.	0.897|.	P|.	0.48488|.	0.579|.	T|T	0.46119|0.46119	-0.9214|-0.9214	10|7	0.20046|0.87932	T|D	0.44|0	-27.4174|-27.4174	10.5185|10.5185	0.44905|0.44905	0.838:0.162:0.0:0.0|0.838:0.162:0.0:0.0	.|.	239|.	Q9BUJ0|.	ABHEA_HUMAN|.	L|S	239;197;173|122	ENSP00000273596:H239L|ENSP00000418824:T122S	ENSP00000273596:H239L|ENSP00000418824:T122S	H|T	+|+	2|1	0|0	ABHD14A|ABHD14A	51989974|51989974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	6.124000|6.124000	0.71620|0.71620	2.056000|2.056000	0.61249|0.61249	0.379000|0.379000	0.24179|0.24179	CAC|ACT	-	superfamily_SSF53474		0.582	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD14A	protein_coding	OTTHUMT00000349689.1	A	NM_015407		51989974	+1	no_errors	NM_015407	genbank	human	provisional	54_36p	missense	SNP	0.994	T
SSRP1	6749	genome.wustl.edu	37	11	57097599	57097599	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:57097599G>C	ENST00000278412.2	-	12	1715	c.1449C>G	c.(1447-1449)aaC>aaG	p.N483K	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	483	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTTCACCTGGGTTGAATGACT	0.527																																					Colon(89;1000 1340 6884 23013 41819)											0			11											181.0	157.0	165.0					11																	57097599		2201	4296	6497	56854175	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1449C>G	11.37:g.57097599G>C	ENSP00000278412:p.Asn483Lys		56854175	Q5BJG8	Missense_Mutation	SNP	HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box	p.N483K	ENST00000278412.2	37	c.1449	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496922	0.12762	.	.	ENSG00000149136	ENST00000278412	D	0.92149	-2.98	5.4	2.51	0.30379	.	0.048282	0.85682	D	0.000000	D	0.84862	0.5566	L	0.43757	1.38	0.48975	D	0.999739	B	0.09022	0.002	B	0.04013	0.001	T	0.72261	-0.4345	10	0.06757	T	0.87	-31.0708	8.9406	0.35727	0.3094:0.0:0.6906:0.0	.	483	Q08945	SSRP1_HUMAN	K	483	ENSP00000278412:N483K	ENSP00000278412:N483K	N	-	3	2	SSRP1	56854175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.452000	0.35156	0.397000	0.25310	0.561000	0.74099	AAC	-	NULL		0.527	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	protein_coding	OTTHUMT00000392460.1	G	NM_003146		56854175	-1	no_errors	NM_003146	genbank	human	reviewed	54_36p	missense	SNP	0.997	C
MIR512-2	574459	genome.wustl.edu	37	19	54172420	54172420	+	RNA	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:54172420C>T	ENST00000384912.1	+	0	10				MIR512-1_ENST00000384913.1_RNA|MIR1323_ENST00000408090.1_RNA	NR_030180.1|NR_030181.1				microRNA 512-2																		GGGTACTTCTCAGTCTGTGGC	0.473																																																0			19											30.0	28.0	28.0					19																	54172420		1568	3557	5125	58864232			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207644	ENSG00000207644		"""ncRNAs / Micro RNAs"""	32091	non-coding RNA	RNA, micro				MIRN512-2			Standard	NR_030181		Approved	hsa-mir-512-2	uc021uzj.1				19.37:g.54172420C>T			58864232		RNA	SNP	-	NULL	ENST00000384912.1	37	NULL		19																																																																																			-	-		0.473	MIR512-2-201	KNOWN	basic	miRNA	MIRN512-2	miRNA		C	NR_030181		58864232	+1	no_errors	ENST00000384912	ensembl	human	known	54_36p	rna	SNP	0.562	T
PUS10	150962	genome.wustl.edu	37	2	61175193	61175193	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:61175193T>G	ENST00000316752.6	-	16	1697	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	PUS10_ENST00000407787.1_Missense_Mutation_p.K479T	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	479					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AGCCTGAGTTTTCAAGTGGAG	0.552																																																0			2											156.0	157.0	157.0					2																	61175193		2203	4300	6503	61028697	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1436A>C	2.37:g.61175193T>G	ENSP00000326003:p.Lys479Thr		61028697	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	NULL	p.K479T	ENST00000316752.6	37	c.1436	CCDS1865.1	2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742730	0.30865	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.87571	-2.27;-2.27	5.72	4.56	0.56223	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	L	0.60067	1.865	0.80722	D	1	P;P	0.34462	0.454;0.454	B;B	0.34452	0.183;0.183	T	0.80261	-0.1456	10	0.32370	T	0.25	-3.3793	11.8575	0.52446	0.0:0.0683:0.0:0.9317	.	479;479	A8K6R4;Q3MIT2	.;PUS10_HUMAN	T	479	ENSP00000326003:K479T;ENSP00000386074:K479T	ENSP00000326003:K479T	K	-	2	0	PUS10	61028697	1.000000	0.71417	0.974000	0.42286	0.355000	0.29361	3.876000	0.56115	1.103000	0.41568	0.528000	0.53228	AAA	-	NULL		0.552	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	protein_coding	OTTHUMT00000251582.2	T	NM_144709		61028697	-1	no_errors	NM_144709	genbank	human	validated	54_36p	missense	SNP	1.000	G
NLRP13	126204	genome.wustl.edu	37	19	56413556	56413556	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:56413556C>G	ENST00000342929.3	-	9	2633	c.2634G>C	c.(2632-2634)caG>caC	p.Q878H	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q878H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	878							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGCTGCCAGCTGGCAAAACC	0.602																																																0			19											58.0	47.0	51.0					19																	56413556		2203	4300	6503	61105368	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2634G>C	19.37:g.56413556C>G	ENSP00000343891:p.Gln878His		61105368	Q7RTR5	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1	p.Q878H	ENST00000342929.3	37	c.2634	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171280	0.06421	.	.	ENSG00000173572	ENST00000342929	T	0.54675	0.56	2.52	0.274	0.15654	.	.	.	.	.	T	0.31979	0.0814	N	0.16266	0.395	0.09310	N	1	B	0.25955	0.138	B	0.32805	0.153	T	0.29150	-1.0021	9	0.21540	T	0.41	.	4.1561	0.10261	0.0:0.6286:0.0:0.3713	.	878	Q86W25	NAL13_HUMAN	H	878	ENSP00000343891:Q878H	ENSP00000343891:Q878H	Q	-	3	2	NLRP13	61105368	0.000000	0.05858	0.077000	0.20336	0.246000	0.25737	-1.354000	0.02614	0.362000	0.24319	0.467000	0.42956	CAG	-	superfamily_SSF52047		0.602	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	C	NM_176810		61105368	-1	no_errors	NM_176810	genbank	human	validated	54_36p	missense	SNP	0.022	G
SCGB1D1	10648	genome.wustl.edu	37	11	61959643	61959643	+	Silent	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:61959643A>C	ENST00000306238.3	+	2	240	c.171A>C	c.(169-171)gcA>gcC	p.A57A		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	57						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						AAGCTGTTGCAGCCAAGATGG	0.423																																																0			11											135.0	130.0	132.0					11																	61959643		2202	4299	6501	61716219	SO:0001819	synonymous_variant	10648			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.171A>C	11.37:g.61959643A>C			61716219		Silent	SNP	HMMPfam_Uteroglobin,superfamily_Secretoglobin,HMMSmart_UTG	p.A57	ENST00000306238.3	37	c.171	CCDS8015.1	11																																																																																			-	HMMPfam_Uteroglobin,superfamily_Secretoglobin,HMMSmart_UTG		0.423	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D1	protein_coding	OTTHUMT00000394856.1	A	NM_006552		61716219	+1	no_errors	NM_006552	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
SLC22A8	9376	genome.wustl.edu	37	11	62766517	62766517	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:62766517C>G	ENST00000336232.2	-	5	772	c.637G>C	c.(637-639)Gca>Cca	p.A213P	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.A213P|SLC22A8_ENST00000545207.1_Missense_Mutation_p.A122P|SLC22A8_ENST00000430500.2_Missense_Mutation_p.A213P|SLC22A8_ENST00000535878.1_Missense_Mutation_p.A90P	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	213					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TACCCGAGTGCTGTCGACATG	0.592																																																0			11											114.0	100.0	105.0					11																	62766517		2201	4298	6499	62523093	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.637G>C	11.37:g.62766517C>G	ENSP00000337335:p.Ala213Pro		62523093	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1	p.A213P	ENST00000336232.2	37	c.637	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881513	0.51908	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.82	-9.64	0.00541	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.496920	0.03712	N	0.250349	T	0.50718	0.1632	L	0.53561	1.675	0.09310	N	1	P;P;P	0.43885	0.82;0.755;0.755	B;P;P	0.47891	0.424;0.56;0.56	T	0.59343	-0.7472	10	0.56958	D	0.05	.	2.1097	0.03700	0.2767:0.1175:0.1245:0.4813	.	213;213;213	Q8TCC7-2;Q8TCC7;B2R807	.;S22A8_HUMAN;.	P	213;199;122;90;213;213	ENSP00000337335:A213P;ENSP00000441658:A122P;ENSP00000443368:A90P;ENSP00000311463:A213P;ENSP00000398548:A213P	ENSP00000311463:A213P	A	-	1	0	SLC22A8	62523093	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.382000	0.00243	-2.133000	0.00813	-0.422000	0.05995	GCA	-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	C	NM_004254		62523093	-1	no_errors	NM_004254	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
IGHMBP2	3508	genome.wustl.edu	37	11	68701360	68701360	+	Missense_Mutation	SNP	G	G	A	rs556292818		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:68701360G>A	ENST00000255078.3	+	10	1627	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	506					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGGAGGACGAACAGTCGAA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.001		0.0	False		,,,				2504	0.0															0			11											64.0	64.0	64.0					11																	68701360		2196	4294	6490	68457936	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1516G>A	11.37:g.68701360G>A	ENSP00000255078:p.Glu506Lys		68457936	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154	p.E506K	ENST00000255078.3	37	c.1516	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136075	0.37728	.	.	ENSG00000132740	ENST00000255078	D	0.92299	-3.01	4.84	3.66	0.41972	.	0.658684	0.14603	N	0.309531	D	0.87549	0.6205	L	0.56340	1.77	0.80722	D	1	B	0.34161	0.439	B	0.30572	0.117	T	0.80892	-0.1179	10	0.27082	T	0.32	-7.8903	8.0739	0.30706	0.1536:0.0:0.8464:0.0	.	506	P38935	SMBP2_HUMAN	K	506	ENSP00000255078:E506K	ENSP00000255078:E506K	E	+	1	0	IGHMBP2	68457936	1.000000	0.71417	0.011000	0.14972	0.049000	0.14656	6.879000	0.75572	0.701000	0.31803	0.561000	0.74099	GAA	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.542	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68457936	+1	no_errors	NM_002180	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RAB3IP	117177	genome.wustl.edu	37	12	70206746	70206746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:70206746C>G	ENST00000362025.5	+	9	1628	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	RAB3IP_ENST00000550536.1_Missense_Mutation_p.I427M|RAB3IP_ENST00000247833.7_Missense_Mutation_p.I411M|RAB3IP_ENST00000325555.9_Missense_Mutation_p.I205M|AC025263.3_ENST00000550437.1_Missense_Mutation_p.I52M|RAB3IP_ENST00000553099.1_Missense_Mutation_p.I205M|RAB3IP_ENST00000550847.1_Missense_Mutation_p.I118M|RAB3IP_ENST00000551641.1_Missense_Mutation_p.I205M|RAB3IP_ENST00000483530.2_Nonsense_Mutation_p.S378*	NM_175625.2	NP_783324.1			RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGCCTAGATCACTTCTGTAT	0.363																																																0			12											150.0	137.0	141.0					12																	70206746		2203	4300	6503	68493013	SO:0001587	stop_gained	117177				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000362025.5:c.1181C>G	12.37:g.70206746C>G	ENSP00000355381:p.Ser394*		68493013		Nonsense_Mutation	SNP	HMMPfam_Sec2p	p.S394*	ENST00000362025.5	37	c.1181	CCDS41811.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.420861|6.420861|6.420861	0.97555|0.97555|0.97555	.|.|.	.|.|.	ENSG00000127328|ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000483530;ENST00000362025	.|T;T;T;T;T;T|.	.|0.49139|.	.|0.79;0.79;0.79;0.79;0.79;0.79|.	6.01|6.01|6.01	4.2|4.2|4.2	0.49525|0.49525|0.49525	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.61248|0.61248|.	0.2332|0.2332|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.71674|.	.|0.998|.	.|D|.	.|0.78314|.	.|0.991|.	T|T|.	0.61744|0.61744|.	-0.7000|-0.7000|.	4|9|.	.|0.87932|0.66056	.|D|D	.|0|0.02	.|.|.	5.6265|5.6265|5.6265	0.17485|0.17485|0.17485	0.1292:0.6057:0.0:0.265|0.1292:0.6057:0.0:0.265|0.1292:0.6057:0.0:0.265	.|.|.	.|427|.	.|Q96QF0|.	.|RAB3I_HUMAN|.	D|M|X	172|411;205;427;205;205;118|378;394	.|ENSP00000247833:I411M;ENSP00000323349:I205M;ENSP00000447300:I427M;ENSP00000448773:I205M;ENSP00000448027:I205M;ENSP00000448102:I118M|.	.|ENSP00000447336:I52M|ENSP00000355381:S394X	H|I|S	+|+|+	1|3|2	0|3|0	RAB3IP|RAB3IP|RAB3IP	68493013|68493013|68493013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.887000|0.887000|0.887000	0.51463|0.51463|0.51463	2.004000|2.004000|2.004000	0.40854|0.40854|0.40854	0.887000|0.887000|0.887000	0.36136|0.36136|0.36136	-0.133000|-0.133000|-0.133000	0.14855|0.14855|0.14855	CAC|ATC|TCA	-	NULL		0.363	RAB3IP-002	KNOWN	basic|CCDS	protein_coding	RAB3IP	protein_coding	OTTHUMT00000280670.1	C	NM_022456		68493013	+1	no_errors	NM_175625	genbank	human	validated	54_36p	nonsense	SNP	1.000	G
CSN2	1447	genome.wustl.edu	37	4	70826669	70826669	+	Silent	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:70826669T>G	ENST00000353151.3	-	1	56	c.45A>C	c.(43-45)gcA>gcC	p.A15A		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ATACCTCCCTTGCAAGAGCAA	0.388																																																0			4											90.0	89.0	89.0					4																	70826669		2203	4300	6503	70861258	SO:0001819	synonymous_variant	1447			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.45A>C	4.37:g.70826669T>G			70861258	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	PatternScan_CASEIN_ALPHA_BETA,HMMPfam_Casein	p.A15	ENST00000353151.3	37	c.45	CCDS3532.1	4																																																																																			-	PatternScan_CASEIN_ALPHA_BETA		0.388	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	protein_coding	OTTHUMT00000251565.1	T			70861258	-1	no_errors	NM_001891	genbank	human	validated	54_36p	silent	SNP	0.990	G
Unknown	0	genome.wustl.edu	37	8	73150327	73150327	+	IGR	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr8:73150327C>T								RP11-142A23.1 (35823 upstream) : RNA5SP271 (119635 downstream)																							TGTCCAGGCACATTTTCATCA	0.413																																																0			8																																								73312881	SO:0001628	intergenic_variant	0																															8.37:g.73150327C>T			73312881		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.413					LOC392232			C			73312881	-1	no_errors	XR_037363	genbank	human	model	54_36p	rna	SNP	0.998	T
DUSP13	51207	genome.wustl.edu	37	10	76863744	76863744	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr10:76863744C>A	ENST00000491677.2	-	4	741	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	DUSP13_ENST00000607131.1_Missense_Mutation_p.A31S|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	170					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCTGGGCTTCCACCATC	0.642																																					NSCLC(174;1655 2059 12324 40663 42963)											0			10											34.0	35.0	35.0					10																	76863744		2196	4297	6493	76533750	SO:0001583	missense	51207			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.199G>T	10.37:g.76863744C>A	ENSP00000436312:p.Ala67Ser		76533750	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1	p.A31S	ENST00000491677.2	37	c.91		10	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846827	0.32606	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.06608	3.28	4.41	2.44	0.29823	.	2.918520	0.01556	N	0.019889	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39563	-0.9608	10	0.15066	T	0.55	-0.9659	4.8679	0.13618	0.2065:0.6771:0.0:0.1163	.	67	F2Z2C4	.	S	67;31	ENSP00000436312:A67S	ENSP00000361783:A31S	A	-	1	0	DUSP13	76533750	0.001000	0.12720	0.008000	0.14137	0.015000	0.08874	0.059000	0.14322	0.532000	0.28657	-0.181000	0.13052	GCC	-	NULL		0.642	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	DUSP13	protein_coding		C			76533750	-1	no_errors	NM_001007273	genbank	human	reviewed	54_36p	missense	SNP	0.045	A
SRI	6717	genome.wustl.edu	37	7	87835800	87835800	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:87835800C>T	ENST00000265729.2	-	8	642	c.590G>A	c.(589-591)aGt>aAt	p.S197N	SRI_ENST00000419179.1_Missense_Mutation_p.S157N|SRI_ENST00000490437.1_Missense_Mutation_p.S154N|SRI_ENST00000394641.3_Missense_Mutation_p.S182N	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	197					action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GATTTAAACACTCATGACACA	0.383																																																0			7											128.0	121.0	123.0					7																	87835800		2203	4300	6503	87673736	SO:0001583	missense	6717			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.590G>A	7.37:g.87835800C>T	ENSP00000265729:p.Ser197Asn		87673736	A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand	p.S197N	ENST00000265729.2	37	c.590	CCDS5612.1	7	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862286	0.32884	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.62	4.74	0.60224	EF-hand-like domain (1);	0.233852	0.41001	N	0.000967	T	0.37999	0.1024	L	0.48935	1.535	0.80722	D	1	B;B;B	0.17465	0.022;0.0;0.01	B;B;B	0.20955	0.032;0.004;0.004	T	0.14172	-1.0482	10	0.34782	T	0.22	.	14.0058	0.64463	0.0:0.8178:0.1822:0.0	.	157;182;197	B4DHQ6;A8MTH6;P30626	.;.;SORCN_HUMAN	N	197;157;154;182	ENSP00000265729:S197N;ENSP00000397609:S157N;ENSP00000418512:S154N;ENSP00000378137:S182N	ENSP00000265729:S197N	S	-	2	0	SRI	87673736	1.000000	0.71417	0.908000	0.35775	0.638000	0.38207	3.781000	0.55394	1.385000	0.46445	0.655000	0.94253	AGT	-	superfamily_EF-hand		0.383	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRI	protein_coding	OTTHUMT00000253680.1	C	NM_003130		87673736	-1	no_errors	NM_003130	genbank	human	validated	54_36p	missense	SNP	0.941	T
CDK20	23552	genome.wustl.edu	37	9	90582352	90582352	+	3'UTR	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:90582352G>C	ENST00000325303.8	-	0	1371				CDK20_ENST00000375871.4_3'UTR|CDK20_ENST00000375883.3_3'UTR|CDK20_ENST00000605159.1_3'UTR|CDK20_ENST00000336654.5_3'UTR	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						CTGAGGAGCAGGCAGACGGGA	0.637																																																0			9											50.0	41.0	44.0					9																	90582352		2145	4175	6320	89772172	SO:0001624	3_prime_UTR_variant	23552			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.*25C>G	9.37:g.90582352G>C			89772172	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.P334R	ENST00000325303.8	37	c.1001	CCDS35060.1	9	.	.	.	.	.	.	.	.	.	.	.	8.124	0.781488	0.16120	.	.	ENSG00000156345	ENST00000286878	.	.	.	4.23	1.1	0.20463	.	1.233990	0.06240	U	0.690248	T	0.36413	0.0966	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39187	-0.9626	6	0.87932	D	0	-4.131	2.8707	0.05616	0.1034:0.2057:0.5147:0.1762	.	.	.	.	R	334	.	ENSP00000286878:P334R	P	-	2	0	CDK20	89772172	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.154000	0.16343	-0.002000	0.14469	0.491000	0.48974	CCT	-	NULL		0.637	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRK	protein_coding	OTTHUMT00000214996.1	G	NM_012119		89772172	-1	no_errors	ENST00000286878	ensembl	human	known	54_36p	missense	SNP	0.000	C
NAP1L3	4675	genome.wustl.edu	37	X	92927626	92927626	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:92927626T>G	ENST00000373079.3	-	1	941	c.678A>C	c.(676-678)gaA>gaC	p.E226D	FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.E219D|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	226	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CCTCAGGAATTTCTTTAGGAA	0.408																																																0			X											111.0	113.0	113.0					X																	92927626		2203	4300	6503	92814282	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.678A>C	X.37:g.92927626T>G	ENSP00000362171:p.Glu226Asp		92814282	B2RCM0|O60788	Missense_Mutation	SNP	HMMPfam_NAP	p.E226D	ENST00000373079.3	37	c.678	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	T	6.866	0.529090	0.13127	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.32023	1.47	3.29	0.668	0.17912	.	0.227223	0.27331	N	0.019843	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.12811	-1.0533	10	0.40728	T	0.16	.	4.3736	0.11260	0.198:0.0:0.2012:0.6008	.	226	Q99457	NP1L3_HUMAN	D	226;219	ENSP00000362171:E226D	ENSP00000362171:E226D	E	-	3	2	NAP1L3	92814282	0.423000	0.25482	0.041000	0.18516	0.102000	0.19082	0.401000	0.20948	0.042000	0.15717	0.430000	0.28490	GAA	-	HMMPfam_NAP		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	protein_coding	OTTHUMT00000057449.1	T	NM_004538		92814282	-1	no_errors	NM_004538	genbank	human	reviewed	54_36p	missense	SNP	0.721	G
CALCR	799	genome.wustl.edu	37	7	93116281	93116281	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:93116281A>G	ENST00000394441.1	-	2	328	c.13T>C	c.(13-15)Ttt>Ctt	p.F5L	CALCR_ENST00000359558.2_Missense_Mutation_p.F23L|MIR489_ENST00000384923.1_RNA|CALCR_ENST00000426151.1_Missense_Mutation_p.F5L|CALCR_ENST00000360249.4_Missense_Mutation_p.F5L|CALCR_ENST00000421592.1_Missense_Mutation_p.F5L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	23					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGGCTTGTAAATGTGAACCTC	0.313																																																0			7											99.0	106.0	104.0					7																	93116281		2203	4300	6503	92954217	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.13T>C	7.37:g.93116281A>G	ENSP00000377959:p.Phe5Leu		92954217	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	superfamily_SSF111418,superfamily_SSF81321,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.F5L	ENST00000394441.1	37	c.13	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945396	0.02304	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.41758	0.99;1.0;1.0;1.08;1.08	3.93	-6.42	0.01932	.	.	.	.	.	T	0.09642	0.0237	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23440	-1.0188	9	0.02654	T	1	.	4.0517	0.09798	0.3949:0.0:0.1967:0.4084	.	23;5	F5H605;A4D1G6	.;.	L	23;5;5;5;5;5	ENSP00000352561:F23L;ENSP00000353385:F5L;ENSP00000399552:F5L;ENSP00000377959:F5L;ENSP00000389295:F5L	ENSP00000352561:F23L	F	-	1	0	CALCR	92954217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.707000	0.01893	-1.380000	0.02115	0.533000	0.62120	TTT	-	NULL		0.313	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	A	NM_001742		92954217	-1	no_errors	NM_001742	genbank	human	validated	54_36p	missense	SNP	0.001	G
OR5H7P	79291	genome.wustl.edu	37	3	97957325	97957325	+	lincRNA	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:97957325G>A	ENST00000508616.1	+	0	26																											GGGGAATCTTGGTCTAATTGT	0.418																																																0			3																																								99440015			0																															3.37:g.97957325G>A			99440015		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1	p.G5S	ENST00000508616.1	37	c.13		3																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.418	RP11-325B23.2-001	KNOWN	basic	lincRNA	ENSG00000187900	lincRNA	OTTHUMT00000359282.1	G			99440015	+1	no_errors	ENST00000341450	ensembl	human	known	54_36p	missense	SNP	0.000	A
SLC12A9	56996	genome.wustl.edu	37	7	100456550	100456550	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:100456550G>A	ENST00000354161.3	+	6	976	c.851G>A	c.(850-852)gGg>gAg	p.G284E	SLC12A9_ENST00000428758.1_Missense_Mutation_p.G284E|SLC12A9_ENST00000415287.1_Missense_Mutation_p.G195E|SLC12A9_ENST00000275729.3_Missense_Mutation_p.G195E|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G284E	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	284					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATCATGGCTGGGGCCAACATG	0.607																																																0			7											80.0	65.0	70.0					7																	100456550		2203	4300	6503	100294486	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.851G>A	7.37:g.100456550G>A	ENSP00000275730:p.Gly284Glu		100294486	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	HMMPfam_AA_permease	p.G284E	ENST00000354161.3	37	c.851	CCDS5707.1	7	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804594	0.90623	.	.	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	D;D;D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24;-5.24;-5.24	5.04	5.04	0.67666	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.99393	0.9786	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.98530	1.0627	10	0.87932	D	0	.	15.8635	0.79043	0.0:0.0:1.0:0.0	.	195;284	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	E	284;20;284;195;195;284;92	ENSP00000443702:G284E;ENSP00000406560:G20E;ENSP00000408301:G284E;ENSP00000275729:G195E;ENSP00000413796:G195E;ENSP00000275730:G284E;ENSP00000410692:G92E	ENSP00000275729:G195E	G	+	2	0	SLC12A9	100294486	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.628000	0.98415	2.320000	0.78422	0.478000	0.44815	GGG	-	HMMPfam_AA_permease		0.607	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	protein_coding	OTTHUMT00000342837.1	G	NM_020246		100294486	+1	no_errors	NM_020246	genbank	human	validated	54_36p	missense	SNP	1.000	A
BHLHB9	80823	genome.wustl.edu	37	X	102005393	102005393	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:102005393A>C	ENST00000372735.1	+	4	2055	c.1470A>C	c.(1468-1470)ttA>ttC	p.L490F	BHLHB9_ENST00000457056.1_Missense_Mutation_p.L490F|BHLHB9_ENST00000447531.1_Missense_Mutation_p.L490F|BHLHB9_ENST00000361229.4_Missense_Mutation_p.L490F|BHLHB9_ENST00000448867.1_Missense_Mutation_p.L490F			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	490					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGCAGCATTAAAACTCATCT	0.353																																																0			X											120.0	117.0	118.0					X																	102005393		2203	4300	6503	101892049	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1470A>C	X.37:g.102005393A>C	ENSP00000361820:p.Leu490Phe		101892049	Q9C0G2	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_DUF634	p.L490F	ENST00000372735.1	37	c.1470	CCDS14502.1	X	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831349	0.32329	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.5	0.762	0.18454	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.37053	N	0.002274	T	0.24774	0.0601	N	0.11845	0.185	0.40740	D	0.982825	B	0.28552	0.215	B	0.35607	0.206	T	0.03443	-1.1036	9	.	.	.	-13.931	3.4168	0.07378	0.5943:0.2031:0.2027:0.0	.	490	Q6PI77	BHLH9_HUMAN	F	490	ENSP00000403226:L490F;ENSP00000354675:L490F;ENSP00000405893:L490F;ENSP00000391722:L490F;ENSP00000361820:L490F	.	L	+	3	2	BHLHB9	101892049	1.000000	0.71417	0.836000	0.33094	0.976000	0.68499	1.261000	0.32980	0.018000	0.15052	0.441000	0.28932	TTA	-	superfamily_ARM-type_fold,HMMPfam_DUF634		0.353	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	protein_coding	OTTHUMT00000057630.1	A	NM_030639		101892049	+1	no_errors	NM_030639	genbank	human	validated	54_36p	missense	SNP	1.000	C
CDC42BPB	9578	genome.wustl.edu	37	14	103410775	103410775	+	Silent	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:103410775A>C	ENST00000361246.2	-	30	4149	c.3861T>G	c.(3859-3861)gcT>gcG	p.A1287A		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTCCCTGGGAGCAAGCTCGA	0.587																																																0			14											49.0	49.0	49.0					14																	103410775		2201	4298	6499	102480528	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3861T>G	14.37:g.103410775A>C			102480528		Silent	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,HMMPfam_DMPK_coil,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_CNH,HMMSmart_CNH,HMMPfam_PBD,HMMSmart_PBD	p.A1287	ENST00000361246.2	37	c.3861	CCDS9978.1	14																																																																																			-	HMMPfam_CNH,HMMSmart_CNH		0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	protein_coding	OTTHUMT00000415711.1	A	NM_006035		102480528	-1	no_errors	NM_006035	genbank	human	reviewed	54_36p	silent	SNP	0.788	C
ADSSL1	122622	genome.wustl.edu	37	14	105212718	105212718	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:105212718C>T	ENST00000555674.1	+	1	326	c.135C>T	c.(133-135)gtC>gtT	p.V45V	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000332972.5_Silent_p.V482V|ADSSL1_ENST00000556623.1_Silent_p.V45V|ADSSL1_ENST00000330877.2_Silent_p.V439V					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACGTGGGAGTCGCAGGTGGGT	0.637																																																0			14											43.0	44.0	44.0					14																	105212718		2203	4300	6503	104283763	SO:0001819	synonymous_variant	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.135C>T	14.37:g.105212718C>T			104283763		Silent	SNP	HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540,PatternScan_ADENYLOSUCCIN_SYN_2	p.V482	ENST00000555674.1	37	c.1446		14																																																																																			-	HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540		0.637	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	ADSSL1	protein_coding	OTTHUMT00000410540.1	C			104283763	+1	no_errors	NM_199165	genbank	human	validated	54_36p	silent	SNP	0.988	T
OR13D3P	402374	genome.wustl.edu	37	9	107484854	107484854	+	IGR	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:107484854C>T								OR13D1 (27088 upstream) : NIPSNAP3A (25114 downstream)																							TCCATTCCTCCAATGCTTATT	0.438																																																0			9																																								106524675	SO:0001628	intergenic_variant	0																															9.37:g.107484854C>T			106524675		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P80L		37	c.239		9																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1	0	0.438					ENSG00000188712			C			106524675	+1	no_errors	ENST00000338236	ensembl	human	known	54_36p	missense	SNP	0.001	T
BCAP29	55973	genome.wustl.edu	37	7	107258898	107258898	+	3'UTR	SNP	T	T	A	rs550938616		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:107258898T>A	ENST00000005259.4	+	0	1155				BCAP29_ENST00000465919.1_3'UTR|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.Y299N|BCAP29_ENST00000445771.2_Missense_Mutation_p.Y299N|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAAAATGCACTATGACCGGTT	0.289																																																0			7											55.0	57.0	56.0					7																	107258898		2203	4293	6496	107046134	SO:0001624	3_prime_UTR_variant	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.*90T>A	7.37:g.107258898T>A			107046134	G5E9L4|O95003	Missense_Mutation	SNP	HMMPfam_Bap31	p.Y299N	ENST00000005259.4	37	c.895	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731913	0.15507	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	3.97	0.192	0.15134	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.22601	0.04	T	0.19844	-1.0293	8	0.87932	D	0	.	6.1157	0.20126	0.0:0.337:0.0:0.663	.	299	G5E9L4	.	N	299	.	ENSP00000368414:Y299N	Y	+	1	0	BCAP29	107046134	0.009000	0.17119	0.000000	0.03702	0.031000	0.12232	0.889000	0.28282	-0.121000	0.11787	-0.250000	0.11733	TAT	-	NULL		0.289	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	protein_coding	OTTHUMT00000337011.2	T	NM_018844		107046134	+1	no_errors	NM_001008405	genbank	human	validated	54_36p	missense	SNP	0.004	A
SART3	9733	genome.wustl.edu	37	12	108930543	108930543	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:108930543T>C	ENST00000228284.3	-	10	1562	c.1328A>G	c.(1327-1329)gAg>gGg	p.E443G	SART3_ENST00000431469.2_Missense_Mutation_p.E407G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	443					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CCTCAACTCCTCCAGCTCTTT	0.468									Porokeratosis																																							0			12											42.0	39.0	40.0					12																	108930543		2203	4300	6503	107454673	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1328A>G	12.37:g.108930543T>C	ENSP00000228284:p.Glu443Gly		107454673	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	superfamily_TPR-like,HMMSmart_SM00386,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_Lsm_interact	p.E443G	ENST00000228284.3	37	c.1328	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	T	28.9	4.963311	0.92791	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.38240	1.15;1.38;1.15	5.79	5.79	0.91817	.	0.049257	0.85682	D	0.000000	T	0.53012	0.1770	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.59357	0.98;0.968;0.985;0.969	P;P;P;P	0.58970	0.755;0.849;0.821;0.711	T	0.54029	-0.8354	10	0.59425	D	0.04	-27.675	15.8037	0.78477	0.0:0.0:0.0:1.0	.	391;461;407;443	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	G	443;407;19;391;461	ENSP00000228284:E443G;ENSP00000414453:E407G;ENSP00000449386:E461G	ENSP00000228284:E443G	E	-	2	0	SART3	107454673	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.226000	0.78060	2.218000	0.71995	0.533000	0.62120	GAG	-	superfamily_TPR-like		0.468	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	protein_coding	OTTHUMT00000404094.1	T			107454673	-1	no_errors	NM_014706	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MERTK	10461	genome.wustl.edu	37	2	112733038	112733038	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:112733038C>T	ENST00000295408.4	+	7	1390	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	MERTK_ENST00000421804.2_Missense_Mutation_p.T378M|MERTK_ENST00000409780.1_Missense_Mutation_p.T202M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTAGCCAGCACGACTGAAGGA	0.478																																																0			2											109.0	105.0	106.0					2																	112733038		2203	4300	6503	112449509	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1133C>T	2.37:g.112733038C>T	ENSP00000295408:p.Thr378Met		112449509	Q9HBB4	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.T378M	ENST00000295408.4	37	c.1133	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983205	0.74474	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.64991	-0.13;-0.13;-0.13	5.57	5.57	0.84162	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003957	T	0.80854	0.4703	M	0.79475	2.455	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.82637	-0.0359	10	0.87932	D	0	-23.7323	19.1494	0.93482	0.0:1.0:0.0:0.0	.	378	Q12866	MERTK_HUMAN	M	378;378;202	ENSP00000295408:T378M;ENSP00000389152:T378M;ENSP00000387277:T202M	ENSP00000295408:T378M	T	+	2	0	MERTK	112449509	1.000000	0.71417	0.958000	0.39756	0.852000	0.48524	5.448000	0.66612	2.634000	0.89283	0.563000	0.77884	ACG	-	superfamily_FN_III-like		0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	C			112449509	+1	no_errors	NM_006343	genbank	human	reviewed	54_36p	missense	SNP	0.958	T
FEZF1	389549	genome.wustl.edu	37	7	121943919	121943919	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:121943919G>T	ENST00000442488.2	-	1	640	c.573C>A	c.(571-573)caC>caA	p.H191Q	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Intron|FEZF1_ENST00000331178.4_Missense_Mutation_p.H191Q|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	191					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTGGCTGCGGGTGCAAAGGGG	0.587																																																0			7											28.0	30.0	30.0					7																	121943919		2203	4300	6503	121731155	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.573C>A	7.37:g.121943919G>T	ENSP00000411145:p.His191Gln		121731155	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.H191Q	ENST00000442488.2	37	c.573	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933503	0.34096	.	.	ENSG00000128610	ENST00000442488;ENST00000331178	T;T	0.05925	3.37;3.48	4.65	1.5	0.22942	.	0.045781	0.85682	D	0.000000	T	0.03477	0.0100	N	0.12182	0.205	0.38780	D	0.954747	B	0.14438	0.01	B	0.09377	0.004	T	0.42531	-0.9446	10	0.48119	T	0.1	-21.1413	7.5384	0.27723	0.2426:0.1701:0.5872:0.0	.	191	A0PJY2	FEZF1_HUMAN	Q	191	ENSP00000411145:H191Q;ENSP00000332777:H191Q	ENSP00000332777:H191Q	H	-	3	2	FEZF1	121731155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.542000	0.23222	0.542000	0.28846	0.555000	0.69702	CAC	-	NULL		0.587	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	protein_coding	OTTHUMT00000347410.1	G	NM_001024613		121731155	-1	no_errors	NM_001024613	genbank	human	provisional	54_36p	missense	SNP	1.000	T
OR10S1	219873	genome.wustl.edu	37	11	123847840	123847840	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:123847840G>C	ENST00000531945.1	-	1	648	c.559C>G	c.(559-561)Cac>Gac	p.H187D		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGCAATGTGGCAAGGCCCA	0.552																																																0			11											101.0	85.0	90.0					11																	123847840		2202	4299	6501	123353050	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.559C>G	11.37:g.123847840G>C	ENSP00000431914:p.His187Asp		123353050	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.H187D	ENST00000531945.1	37	c.559	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	7.989	0.752812	0.15778	.	.	ENSG00000196248	ENST00000531945	T	0.00084	8.75	4.98	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.821148	0.10140	U	0.711028	T	0.00109	0.0003	L	0.33668	1.02	0.09310	N	1	P	0.35226	0.491	B	0.37198	0.243	T	0.00770	-1.1573	10	0.13108	T	0.6	-21.7248	4.3798	0.11288	0.0853:0.2767:0.5072:0.1309	.	187	Q8NGN2	O10S1_HUMAN	D	187	ENSP00000431914:H187D	ENSP00000431914:H187D	H	-	1	0	OR10S1	123353050	0.000000	0.05858	0.014000	0.15608	0.600000	0.36913	-0.381000	0.07417	0.702000	0.31825	0.638000	0.83543	CAC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	protein_coding	OTTHUMT00000387265.2	G	NM_001004474		123353050	-1	no_errors	NM_001004474	genbank	human	provisional	54_36p	missense	SNP	0.000	C
TENM1	10178	genome.wustl.edu	37	X	124097586	124097586	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:124097586C>T	ENST00000371130.3	-	1	80	c.17G>A	c.(16-18)tGc>tAc	p.C6Y	TENM1_ENST00000422452.2_Missense_Mutation_p.C6Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	6	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGGGTTTGCAGTCAGTTTG	0.418																																																0			X											185.0	165.0	172.0					X																	124097586		2203	4300	6503	123925267	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.17G>A	X.37:g.124097586C>T	ENSP00000360171:p.Cys6Tyr		123925267	B2RTR5|Q5JZ17	Missense_Mutation	SNP	HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat	p.C6Y	ENST00000371130.3	37	c.17	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393125	0.62066	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.93	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (1);	0.139125	0.48767	D	0.000171	T	0.77082	0.4078	N	0.22421	0.69	0.44660	D	0.997646	P;P;P	0.42785	0.79;0.79;0.79	B;B;B	0.35413	0.202;0.202;0.202	T	0.79574	-0.1747	10	0.49607	T	0.09	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	6;6;6	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	6	ENSP00000360171:C6Y;ENSP00000403954:C6Y	ENSP00000360171:C6Y	C	-	2	0	ODZ1	123925267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.417000	0.82017	0.600000	0.82982	TGC	-	NULL		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123925267	-1	no_errors	NM_014253	genbank	human	provisional	54_36p	missense	SNP	1.000	T
RABEPK	10244	genome.wustl.edu	37	9	127969863	127969863	+	Missense_Mutation	SNP	G	G	C	rs543701762	byFrequency	TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:127969863G>C	ENST00000373538.3	+	3	384	c.74G>C	c.(73-75)gGa>gCa	p.G25A	RABEPK_ENST00000259460.8_Missense_Mutation_p.G25A|RABEPK_ENST00000394125.4_Missense_Mutation_p.G25A|RABEPK_ENST00000394124.4_Missense_Mutation_p.G25A|RABEPK_ENST00000373544.1_Missense_Mutation_p.G25A	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	25					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACTGTCCCTGGAGACAGCCCC	0.493																																																0			9											150.0	129.0	137.0					9																	127969863		2203	4300	6503	127009684	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.74G>C	9.37:g.127969863G>C	ENSP00000362639:p.Gly25Ala		127009684	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1	p.G25A	ENST00000373538.3	37	c.74	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224565	0.79576	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.996;1.0	P;D;P;D	0.73708	0.822;0.981;0.822;0.961	T	0.78934	-0.2008	10	0.56958	D	0.05	-12.4512	17.3903	0.87428	0.0:0.0:1.0:0.0	.	25;25;25;25	A8K403;Q7Z6M1-2;Q7Z6M1;Q5T1S4	.;.;RABEK_HUMAN;.	A	25;25;25;25;25;108	ENSP00000377683:G25A;ENSP00000259460:G25A;ENSP00000362645:G25A;ENSP00000377682:G25A;ENSP00000362639:G25A;ENSP00000402234:G108A	ENSP00000259460:G25A	G	+	2	0	RABEPK	127009684	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	7.300000	0.78841	2.717000	0.92951	0.655000	0.94253	GGA	-	superfamily_Galactose oxidase central domain		0.493	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	protein_coding	OTTHUMT00000054064.1	G	NM_005833		127009684	+1	no_errors	NM_005833	genbank	human	provisional	54_36p	missense	SNP	1.000	C
SAGE1	55511	genome.wustl.edu	37	X	134993362	134993362	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:134993362A>T	ENST00000370709.3	+	16	2017	c.2017A>T	c.(2017-2019)Act>Tct	p.T673S	SAGE1_ENST00000537770.1_Missense_Mutation_p.T297S|SAGE1_ENST00000535938.1_Missense_Mutation_p.T673S|SAGE1_ENST00000324447.3_Missense_Mutation_p.T673S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	673						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCACCGCCACTCACAGTGT	0.488																																																0			X											111.0	95.0	100.0					X																	134993362		2203	4300	6503	134821028	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2017A>T	X.37:g.134993362A>T	ENSP00000359743:p.Thr673Ser		134821028	Q5JNW0	Missense_Mutation	SNP	NULL	p.T673S	ENST00000370709.3	37	c.2017	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	A	4.882	0.163877	0.09287	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.43688	0.94;0.94;1.36;0.94	1.65	-1.14	0.09741	.	3.927550	0.02914	U	0.137016	T	0.23492	0.0568	N	0.12746	0.255	0.09310	N	1	P;B	0.36378	0.55;0.395	B;B	0.37833	0.259;0.259	T	0.04320	-1.0960	10	0.28530	T	0.3	.	1.5133	0.02500	0.4733:0.0:0.2172:0.3095	.	297;673	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	673;673;297;673	ENSP00000323191:T673S;ENSP00000445959:T673S;ENSP00000438276:T297S;ENSP00000359743:T673S	ENSP00000323191:T673S	T	+	1	0	SAGE1	134821028	0.001000	0.12720	0.005000	0.12908	0.009000	0.06853	0.432000	0.21461	-0.404000	0.07610	-1.111000	0.02071	ACT	-	NULL		0.488	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	protein_coding	OTTHUMT00000058448.1	A	NM_018666		134821028	+1	no_errors	NM_018666	genbank	human	reviewed	54_36p	missense	SNP	0.015	T
KDM3B	51780	genome.wustl.edu	37	5	137771377	137771377	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr5:137771377G>A	ENST00000314358.5	+	24	5474	c.5274G>A	c.(5272-5274)ctG>ctA	p.L1758L	KDM3B_ENST00000394866.1_Silent_p.L1414L|KDM3B_ENST00000542866.1_Silent_p.L790L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1758					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AATCCAAACTGGCAAGGTCCT	0.493																																																0			5											93.0	77.0	82.0					5																	137771377		2203	4300	6503	137799276	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.5274G>A	5.37:g.137771377G>A			137799276	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC	p.L1758	ENST00000314358.5	37	c.5274	CCDS34242.1	5																																																																																			-	NULL		0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD1B	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137799276	+1	no_errors	NM_016604	genbank	human	validated	54_36p	silent	SNP	1.000	A
CNGA2	1260	genome.wustl.edu	37	X	150909361	150909361	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:150909361T>A	ENST00000329903.4	+	4	503	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	157					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGGTGCCTGCTGGTGGCC	0.567																																																0			X											126.0	112.0	117.0					X																	150909361		2203	4300	6503	150660017	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.470T>A	X.37:g.150909361T>A	ENSP00000328478:p.Leu157Gln		150660017	A0AVD0	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2	p.L157Q	ENST00000329903.4	37	c.470	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456832	0.84317	.	.	ENSG00000183862	ENST00000329903	D	0.97710	-4.5	5.44	5.44	0.79542	.	0.074256	0.56097	D	0.000038	D	0.97685	0.9241	M	0.67397	2.05	0.40372	D	0.979357	D	0.57899	0.981	P	0.55161	0.77	D	0.98370	1.0553	10	0.87932	D	0	.	12.3202	0.54981	0.0:0.0:0.0:1.0	.	157	Q16280	CNGA2_HUMAN	Q	157	ENSP00000328478:L157Q	ENSP00000328478:L157Q	L	+	2	0	CNGA2	150660017	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	5.968000	0.70413	1.815000	0.52974	0.441000	0.28932	CTG	-	superfamily_SSF81324		0.567	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	protein_coding	OTTHUMT00000060888.1	T	NM_005140		150660017	+1	no_errors	NM_005140	genbank	human	validated	54_36p	missense	SNP	1.000	A
MME	4311	genome.wustl.edu	37	3	154834270	154834270	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:154834270G>A	ENST00000460393.1	+	5	481	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	MME_ENST00000493237.1_Missense_Mutation_p.V121I|MME_ENST00000360490.2_Missense_Mutation_p.V121I|MME_ENST00000462745.1_Missense_Mutation_p.V121I|MME_ENST00000492661.1_Missense_Mutation_p.V121I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	121					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TATTTCAGATGTCCTTCAAGA	0.328																																																0			3											84.0	81.0	82.0					3																	154834270		2203	4300	6503	156316964	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.361G>A	3.37:g.154834270G>A	ENSP00000418525:p.Val121Ile		156316964	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13"	p.V121I	ENST00000460393.1	37	c.361	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556077	0.86231	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000462837	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.16	6.16	0.99307	Peptidase M13 (1);	0.176430	0.49916	N	0.000139	T	0.75324	0.3834	L	0.37800	1.135	0.58432	D	0.999992	D	0.53151	0.958	P	0.53861	0.736	T	0.74435	-0.3666	10	0.54805	T	0.06	-27.5891	20.8598	0.99761	0.0:0.0:1.0:0.0	.	121	P08473	NEP_HUMAN	I	121	ENSP00000420389:V121I;ENSP00000418525:V121I;ENSP00000420101:V121I;ENSP00000419653:V121I;ENSP00000417079:V121I;ENSP00000353679:V121I;ENSP00000417595:V121I	ENSP00000353679:V121I	V	+	1	0	MME	156316964	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.703000	0.61824	2.937000	0.99478	0.650000	0.86243	GTC	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N"		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	G	NM_000902		156316964	+1	no_errors	NM_000902	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TOMM40L	84134	genome.wustl.edu	37	1	161197480	161197480	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:161197480G>T	ENST00000367988.3	+	5	600	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000367987.1_Missense_Mutation_p.V111F	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	111					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAACGCCCAGGTCTTGCTCCT	0.592											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											60.0	53.0	56.0					1																	161197480		2203	4300	6503	159464104	SO:0001583	missense	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.331G>T	1.37:g.161197480G>T	ENSP00000356967:p.Val111Phe	1814	159464104	B7Z4U0|D3DVG9	Missense_Mutation	SNP	HMMPfam_Porin_3	p.V111F	ENST00000367988.3	37	c.331	CCDS1227.1	1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305663	0.40795	.	.	ENSG00000158882	ENST00000367988;ENST00000542686;ENST00000367987	T;T	0.47177	0.85;0.85	5.6	4.69	0.59074	.	0.184964	0.48767	D	0.000180	T	0.12646	0.0307	N	0.20986	0.625	0.34963	D	0.752391	B	0.19583	0.037	B	0.24006	0.05	T	0.10382	-1.0632	9	0.08381	T	0.77	-18.0553	8.5902	0.33682	0.172:0.0:0.828:0.0	.	111	Q969M1	TM40L_HUMAN	F	111;58;111	ENSP00000356967:V111F;ENSP00000356966:V111F	ENSP00000356966:V111F	V	+	1	0	TOMM40L	159464104	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.384000	0.34396	1.375000	0.46248	-0.136000	0.14681	GTC	-	HMMPfam_Porin_3		0.592	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	protein_coding	OTTHUMT00000083029.1	G	NM_032174		159464104	+1	no_errors	NM_032174	genbank	human	validated	54_36p	missense	SNP	1.000	T
PALLD	23022	genome.wustl.edu	37	4	169602534	169602534	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:169602534C>G	ENST00000505667.1	+	4	1312	c.1139C>G	c.(1138-1140)gCt>gGt	p.A380G	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.A380G|PALLD_ENST00000333488.4_Missense_Mutation_p.A257G			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	380					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAATCAAGAGCTGGAGCTATG	0.388									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0			4											96.0	92.0	93.0					4																	169602534		2203	4300	6503	169839109	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1139C>G	4.37:g.169602534C>G	ENSP00000425556:p.Ala380Gly		169839109	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR	p.A380G	ENST00000505667.1	37	c.1139	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740836	0.30865	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.66815	-0.13;0.15;-0.23;-0.09	5.72	3.98	0.46160	.	0.570901	0.12977	U	0.423610	T	0.45135	0.1327	N	0.22421	0.69	0.80722	D	1	P;B	0.35328	0.495;0.049	B;B	0.24974	0.057;0.028	T	0.15954	-1.0419	10	0.21014	T	0.42	.	7.676	0.28486	0.132:0.7305:0.0:0.1374	.	380;380	B7ZMM5;B2RTX2	.;.	G	380;380;359;257	ENSP00000261509:A380G;ENSP00000425556:A380G;ENSP00000423063:A359G;ENSP00000328945:A257G	ENSP00000261509:A380G	A	+	2	0	PALLD	169839109	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.329000	0.43876	0.751000	0.32900	0.455000	0.32223	GCT	-	PatternScan_DEHYDRATASE_SER_THR		0.388	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	protein_coding	OTTHUMT00000363762.1	C	NM_016081		169839109	+1	no_errors	NM_016081	genbank	human	validated	54_36p	missense	SNP	0.996	G
SKIL	6498	genome.wustl.edu	37	3	170078429	170078429	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:170078429C>G	ENST00000458537.3	+	1	1019	c.310C>G	c.(310-312)Cca>Gca	p.P104A	SKIL_ENST00000413427.2_Missense_Mutation_p.P104A|SKIL_ENST00000259119.4_Missense_Mutation_p.P104A|SKIL_ENST00000426052.2_Missense_Mutation_p.P84A	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	104					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGGGTGGACCAGCAGCATT	0.478																																																0			3											154.0	160.0	158.0					3																	170078429		2203	4300	6503	171561123	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.310C>G	3.37:g.170078429C>G	ENSP00000415243:p.Pro104Ala		171561123	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain,superfamily_SAND domain-like,HMMPfam_c-SKI_SMAD_bind	p.P104A	ENST00000458537.3	37	c.310	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019563	0.75275	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.68142	-0.5487	10	0.66056	D	0.02	-15.566	20.3137	0.98647	0.0:1.0:0.0:0.0	.	104;104	P12757-3;P12757	.;SKIL_HUMAN	A	104;104;84;104;104	ENSP00000417670:P104A;ENSP00000259119:P104A;ENSP00000406520:P84A;ENSP00000400193:P104A;ENSP00000415243:P104A	ENSP00000259119:P104A	P	+	1	0	SKIL	171561123	1.000000	0.71417	0.983000	0.44433	0.583000	0.36354	7.412000	0.80091	2.814000	0.96858	0.585000	0.79938	CCA	-	NULL		0.478	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	protein_coding	OTTHUMT00000352351.4	C	NM_005414		171561123	+1	no_errors	NM_005414	genbank	human	validated	54_36p	missense	SNP	0.999	G
ATF2	1386	genome.wustl.edu	37	2	175983049	175983049	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:175983049C>T	ENST00000264110.2	-	6	546	c.248G>A	c.(247-249)gGt>gAt	p.G83D	ATF2_ENST00000426833.3_Missense_Mutation_p.G65D|ATF2_ENST00000409833.1_Missense_Mutation_p.G83D|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Missense_Mutation_p.G65D|ATF2_ENST00000392544.1_Missense_Mutation_p.G83D|ATF2_ENST00000409635.1_Missense_Mutation_p.G25D|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.G65D|ATF2_ENST00000538946.1_Missense_Mutation_p.G65D|ATF2_ENST00000345739.5_Missense_Mutation_p.G25D	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	83					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	ATTAAACAAACCCACTTCTTC	0.318																																					Pancreas(17;87 705 4534 15538 30988)											0			2											108.0	106.0	106.0					2																	175983049		2201	4298	6499	175691295	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.248G>A	2.37:g.175983049C>T	ENSP00000264110:p.Gly83Asp		175691295	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC	p.G83D	ENST00000264110.2	37	c.248	CCDS2262.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	4.999713|4.999713	0.93227|0.93227	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833|ENST00000435004	T;D;T;D;T;T;T;T;T|.	0.84442|.	1.47;-1.85;1.47;-1.85;1.47;1.47;1.47;1.47;1.47|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81908|0.81908	0.4922|0.4922	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;1.0;1.0;1.0|.	T|T	0.82018|0.82018	-0.0665|-0.0665	10|5	0.87932|.	D|.	0|.	-4.2547|-4.2547	19.6784|19.6784	0.95946|0.95946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65;60;25;83|.	A4D7U4;B3KY57;Q3B7B7;P15336|.	.;.;.;ATF2_HUMAN|.	D|I	83;25;60;65;25;83;65;65;65;25;83|72	ENSP00000264110:G83D;ENSP00000340576:G25D;ENSP00000386326:G65D;ENSP00000387093:G25D;ENSP00000376327:G83D;ENSP00000407911:G65D;ENSP00000437952:G65D;ENSP00000443513:G65D;ENSP00000386526:G83D|.	ENSP00000264110:G83D|.	G|V	-|-	2|1	0|0	ATF2|ATF2	175691295|175691295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.724000|2.724000	0.93272|0.93272	0.585000|0.585000	0.79938|0.79938	GGT|GTT	-	NULL		0.318	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	protein_coding	OTTHUMT00000255562.1	C	NM_001880		175691295	-1	no_errors	NM_001880	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TTC14	151613	genome.wustl.edu	37	3	180321112	180321112	+	Splice_Site	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:180321112G>T	ENST00000296015.4	+	3	618		c.e3+1		RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Splice_Site|TTC14_ENST00000382584.4_Splice_Site	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAAATCACAGTAAGTTATTT	0.363																																																0			3											132.0	123.0	126.0					3																	180321112		2203	4300	6503	181803806	SO:0001630	splice_region_variant	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.486+1G>T	3.37:g.180321112G>T			181803806	G5E9X0|Q6UWJ7|Q8TF22	Splice_Site	SNP	-	e3+1	ENST00000296015.4	37	c.486+1	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219725	0.79464	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8449	0.96704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC14	181803806	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.188000	0.94921	2.680000	0.91292	0.655000	0.94253	.	-	-		0.363	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	protein_coding	OTTHUMT00000349786.1	G	NM_133462	Intron	181803806	+1	no_errors	NM_133462	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
MAGEF1	64110	genome.wustl.edu	37	3	184428929	184428929	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:184428929C>T	ENST00000317897.3	-	1	907	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	227	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GAGGCACCCGCCTGTAACTGA	0.502																																																0			3											59.0	68.0	65.0					3																	184428929		2203	4300	6503	185911623	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.681G>A	3.37:g.184428929C>T			185911623	Q9H215	Silent	SNP	HMMPfam_MAGE	p.R227	ENST00000317897.3	37	c.681	CCDS3269.1	3																																																																																			-	HMMPfam_MAGE		0.502	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	protein_coding	OTTHUMT00000345417.1	C	NM_022149		185911623	-1	no_errors	NM_022149	genbank	human	reviewed	54_36p	silent	SNP	0.346	T
CALCRL	10203	genome.wustl.edu	37	2	188245195	188245195	+	Splice_Site	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:188245195T>A	ENST00000409998.1	-	8	1188	c.407A>T	c.(406-408)aAg>aTg	p.K136M	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Splice_Site_p.K136M|CALCRL_ENST00000392370.3_Splice_Site_p.K136M			Q16602	CALRL_HUMAN	calcitonin receptor-like	136					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGACATACCTTCACTTTCTC	0.338																																																0			2											177.0	181.0	180.0					2																	188245195		2203	4300	6503	187953440	SO:0001630	splice_region_variant	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.408+1A>T	2.37:g.188245195T>A			187953440	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.K136M	ENST00000409998.1	37	c.407	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523154	0.27211	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.38401	1.14;1.14;1.14	5.0	5.0	0.66597	GPCR, family 2, extracellular hormone receptor domain (1);	0.252823	0.33005	N	0.005381	T	0.31670	0.0804	L	0.40543	1.245	0.43110	D	0.994813	B	0.20671	0.047	B	0.21708	0.036	T	0.12630	-1.0540	10	0.54805	T	0.06	.	12.9704	0.58510	0.0:0.0:0.0:1.0	.	136	Q16602	CALRL_HUMAN	M	136	ENSP00000376177:K136M;ENSP00000386972:K136M;ENSP00000387190:K136M	ENSP00000376177:K136M	K	-	2	0	CALCRL	187953440	0.999000	0.42202	1.000000	0.80357	0.228000	0.25075	2.865000	0.48412	2.225000	0.72522	0.460000	0.39030	AAG	-	superfamily_SSF111418,HMMSmart_HormR		0.338	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	protein_coding	OTTHUMT00000334648.1	T	NM_005795	Missense_Mutation	187953440	-1	no_errors	NM_005795	genbank	human	validated	54_36p	missense	SNP	0.986	A
ABI2	10152	genome.wustl.edu	37	2	204292061	204292061	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:204292061C>T	ENST00000422511.2	+	11	1460	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	ABI2_ENST00000261018.7_Missense_Mutation_p.H296Y|ABI2_ENST00000430418.1_Missense_Mutation_p.H455Y|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.H504Y|ABI2_ENST00000261017.5_Missense_Mutation_p.H472Y|ABI2_ENST00000295851.5_Missense_Mutation_p.H510Y|ABI2_ENST00000261016.6_Missense_Mutation_p.H398Y			Q9NYB9	ABI2_HUMAN	abl-interactor 2	510	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTCTATCATGCATTATTCTGA	0.448																																																0			2											158.0	129.0	139.0					2																	204292061		2203	4300	6503	204000306	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1429C>T	2.37:g.204292061C>T	ENSP00000396249:p.His477Tyr		204000306	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	HMMPfam_Abi_HHR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3	p.H472Y	ENST00000422511.2	37	c.1414		2	.	.	.	.	.	.	.	.	.	.	C	32	5.173242	0.94807	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000422511;ENST00000261018	T;T;T;T;T;T;T	0.39787	1.2;1.06;1.37;1.2;1.08;1.21;1.06	6.03	6.03	0.97812	Src homology-3 domain (1);	0.091173	0.85682	D	0.000000	T	0.62865	0.2463	L	0.52573	1.65	0.80722	D	1	D;D;D;D;P;D;P;P;D	0.76494	0.999;0.997;0.993;0.997;0.908;0.981;0.55;0.851;0.998	D;D;D;D;D;D;P;P;D	0.87578	0.998;0.995;0.964;0.98;0.922;0.932;0.502;0.838;0.997	T	0.61579	-0.7034	10	0.87932	D	0	-22.6194	20.5568	0.99304	0.0:1.0:0.0:0.0	.	323;374;235;387;504;455;398;510;472	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;.;.;.;ABI2_HUMAN;.	Y	510;472;455;504;398;477;296	ENSP00000295851:H510Y;ENSP00000261017:H472Y;ENSP00000408898:H455Y;ENSP00000391433:H504Y;ENSP00000261016:H398Y;ENSP00000396249:H477Y;ENSP00000261018:H296Y	ENSP00000261016:H398Y	H	+	1	0	ABI2	204000306	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.770000	0.85390	2.861000	0.98227	0.655000	0.94253	CAT	-	NULL		0.448	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	protein_coding	OTTHUMT00000336179.2	C	NM_005759		204000306	+1	no_errors	NM_005759	genbank	human	validated	54_36p	missense	SNP	1.000	T
DIEXF	27042	genome.wustl.edu	37	1	210006589	210006589	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:210006589T>G	ENST00000491415.2	+	4	505	c.448T>G	c.(448-450)Tca>Gca	p.S150A		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	150	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACCGGGCACATCACAAACATC	0.428																																																0			1											87.0	81.0	83.0					1																	210006589		2203	4300	6503	208073212	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.448T>G	1.37:g.210006589T>G	ENSP00000419005:p.Ser150Ala		208073212	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	HMMPfam_DUF1253	p.S150A	ENST00000491415.2	37	c.448	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	T	3.197	-0.164576	0.06502	.	.	ENSG00000117597	ENST00000491415	T	0.43294	0.95	4.29	3.17	0.36434	.	0.655303	0.14790	N	0.298284	T	0.26412	0.0645	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16188	-1.0411	10	0.20046	T	0.44	-0.6591	4.4301	0.11524	0.0:0.1021:0.2013:0.6966	.	150	Q68CQ4	DIEXF_HUMAN	A	150	ENSP00000419005:S150A	ENSP00000419005:S150A	S	+	1	0	DIEXF	208073212	0.002000	0.14202	0.022000	0.16811	0.065000	0.16274	0.361000	0.20267	1.000000	0.39049	0.528000	0.53228	TCA	-	NULL		0.428	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf107	protein_coding	OTTHUMT00000089127.2	T	NM_014388		208073212	+1	no_errors	NM_014388	genbank	human	validated	54_36p	missense	SNP	0.009	G
TMEM206	55248	genome.wustl.edu	37	1	212553331	212553331	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:212553331G>C	ENST00000261455.4	-	5	681	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	TMEM206_ENST00000535273.1_Missense_Mutation_p.L243V	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	182						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AGGAAGACCAGCTCCCGCTTT	0.542																																																0			1											82.0	88.0	86.0					1																	212553331		2203	4300	6503	210619954	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.544C>G	1.37:g.212553331G>C	ENSP00000261455:p.Leu182Val		210619954	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	NULL	p.L182V	ENST00000261455.4	37	c.544	CCDS1504.1	1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384632	0.42308	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	4.65	0.58169	.	0.213074	0.41194	D	0.000935	T	0.38799	0.1054	N	0.20986	0.625	0.48632	D	0.999684	P;B	0.37731	0.607;0.433	B;B	0.36378	0.223;0.183	T	0.33675	-0.9859	9	0.42905	T	0.14	-13.3238	13.8959	0.63770	0.073:0.0:0.927:0.0	.	243;182	B7Z4D6;Q9H813	.;TM206_HUMAN	V	182;243	.	ENSP00000261455:L182V	L	-	1	2	TMEM206	210619954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.302000	0.43637	2.635000	0.89317	0.650000	0.86243	CTG	-	NULL		0.542	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	protein_coding	OTTHUMT00000089306.1	G	NM_018252		210619954	-1	no_errors	NM_018252	genbank	human	validated	54_36p	missense	SNP	1.000	C
KANSL1L	151050	genome.wustl.edu	37	2	211019041	211019041	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:211019041A>G	ENST00000281772.9	-	2	529	c.266T>C	c.(265-267)tTa>tCa	p.L89S	KANSL1L_ENST00000452086.1_Missense_Mutation_p.L89S|KANSL1L_ENST00000418791.1_Missense_Mutation_p.L89S|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Missense_Mutation_p.L89S	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	89						histone acetyltransferase complex (GO:0000123)											GTGTTTATTTAATGTAGAATT	0.318																																																0			2											77.0	79.0	79.0					2																	211019041		2200	4300	6500	210727286	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.266T>C	2.37:g.211019041A>G	ENSP00000281772:p.Leu89Ser		210727286	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.L89S	ENST00000281772.9	37	c.266	CCDS33370.1	2	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419652	0.62622	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.85	5.85	0.93711	.	0.106626	0.40469	N	0.001098	T	0.62588	0.2440	L	0.29908	0.895	0.34580	D	0.714414	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.74348	0.975;0.948;0.983;0.983	T	0.73626	-0.3923	9	0.87932	D	0	.	16.2285	0.82315	1.0:0.0:0.0:0.0	.	89;89;89;89	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	S	89	.	ENSP00000281772:L89S	L	-	2	0	C2orf67	210727286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.404000	0.73268	2.235000	0.73313	0.460000	0.39030	TTA	-	NULL		0.318	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf67	protein_coding	OTTHUMT00000336633.3	A	NM_152519		210727286	-1	no_errors	NM_152519	genbank	human	validated	54_36p	missense	SNP	0.658	G
CYP27A1	1593	genome.wustl.edu	37	2	219679138	219679138	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:219679138T>C	ENST00000258415.4	+	7	1647	c.1220T>C	c.(1219-1221)aTa>aCa	p.I407T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	407					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TCCCGGATCATAGAAAAGGAA	0.542																																																0			2											109.0	114.0	112.0					2																	219679138		2203	4300	6503	219387382	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1220T>C	2.37:g.219679138T>C	ENSP00000258415:p.Ile407Thr		219387382	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450	p.I407T	ENST00000258415.4	37	c.1220	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651346	0.29336	.	.	ENSG00000135929	ENST00000258415	T	0.66280	-0.2	5.6	-5.28	0.02755	.	0.819328	0.11420	N	0.565878	T	0.33381	0.0861	N	0.11364	0.135	0.09310	N	1	B	0.19817	0.039	B	0.25759	0.063	T	0.35351	-0.9792	10	0.11794	T	0.64	-3.811	7.9767	0.30159	0.2196:0.5145:0.0:0.2659	.	407	Q02318	CP27A_HUMAN	T	407	ENSP00000258415:I407T	ENSP00000258415:I407T	I	+	2	0	CYP27A1	219387382	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	0.357000	0.20199	-0.872000	0.04037	0.459000	0.35465	ATA	-	superfamily_Cytochrome P450,HMMPfam_p450		0.542	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	protein_coding	OTTHUMT00000109734.4	T			219387382	+1	no_errors	NM_000784	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
CCDC108	255101	genome.wustl.edu	37	2	219878017	219878017	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:219878017G>A	ENST00000341552.5	-	24	4004	c.3921C>T	c.(3919-3921)atC>atT	p.I1307I	CCDC108_ENST00000441968.1_Silent_p.I1307I|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.I1307I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1307						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGAATGGGGATGAACTGGT	0.502																																																0			2											140.0	112.0	122.0					2																	219878017		2202	4300	6502	219586261	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3921C>T	2.37:g.219878017G>A			219586261	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	PatternScan_MGMT,superfamily_PapD-like	p.I1307	ENST00000341552.5	37	c.3921	CCDS2430.2	2																																																																																			-	NULL		0.502	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219586261	-1	no_errors	NM_194302	genbank	human	provisional	54_36p	silent	SNP	0.999	A
GPR137B	7107	genome.wustl.edu	37	1	236306111	236306111	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:236306111G>C	ENST00000366592.3	+	1	280	c.189G>C	c.(187-189)caG>caC	p.Q63H	GPR137B_ENST00000366591.4_Missense_Mutation_p.Q63H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	63						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTACGTGCAGCTCTGGCTGG	0.632																																																0			1											115.0	94.0	101.0					1																	236306111		2203	4300	6503	234372734	SO:0001583	missense	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.189G>C	1.37:g.236306111G>C	ENSP00000355551:p.Gln63His		234372734	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.Q63H	ENST00000366592.3	37	c.189	CCDS1609.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521808	0.85600	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.24538	1.85;1.85	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	M	0.82323	2.585	0.58432	D	0.999998	D	0.56968	0.978	P	0.58873	0.847	T	0.56202	-0.8018	10	0.72032	D	0.01	-9.0091	13.4742	0.61299	0.0782:0.0:0.9218:0.0	.	63	O60478	G137B_HUMAN	H	63;63;62	ENSP00000355551:Q63H;ENSP00000355550:Q63H	ENSP00000355550:Q63H	Q	+	3	2	GPR137B	234372734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.398000	0.66308	2.264000	0.75181	0.549000	0.68633	CAG	-	NULL		0.632	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	protein_coding	OTTHUMT00000092761.1	G	NM_003272		234372734	+1	no_errors	NM_003272	genbank	human	validated	54_36p	missense	SNP	1.000	C
ANO7	50636	genome.wustl.edu	37	2	242162677	242162677	+	Missense_Mutation	SNP	G	G	C	rs537399613		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:242162677G>C	ENST00000274979.8	+	22	2663	c.2560G>C	c.(2560-2562)Gtc>Ctc	p.V854L	ANO7_ENST00000402430.3_Missense_Mutation_p.V853L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	854					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCTTCGTCATTGTGTT	0.567																																																0			2											186.0	158.0	167.0					2																	242162677		2203	4300	6503	241811350	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2560G>C	2.37:g.242162677G>C	ENSP00000274979:p.Val854Leu		241811350	Q6IWH6	Missense_Mutation	SNP	HMMPfam_DUF590	p.V854L	ENST00000274979.8	37	c.2560	CCDS33423.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.287995|3.287995	0.59976|0.59976	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.63913	.|-0.07;-0.07	3.38|3.38	1.44|1.44	0.22558|0.22558	.|.	.|0.579135	.|0.15287	.|U	.|0.270381	T|T	0.60728|0.60728	0.2291|0.2291	M|M	0.64676|0.64676	1.99|1.99	0.32241|0.32241	N|N	0.572681|0.572681	.|P	.|0.50943	.|0.94	.|P	.|0.49561	.|0.615	T|T	0.65907|0.65907	-0.6054|-0.6054	5|10	.|0.66056	.|D	.|0.02	.|.	4.1173|4.1173	0.10088|0.10088	0.4206:0.1779:0.4015:0.0|0.4206:0.1779:0.4015:0.0	.|.	.|854	.|Q6IWH7	.|ANO7_HUMAN	P|L	166|854;853	.|ENSP00000274979:V854L;ENSP00000385418:V853L	.|ENSP00000274979:V854L	R|V	+|+	2|1	0|0	ANO7|ANO7	241811350|241811350	0.000000|0.000000	0.05858|0.05858	0.873000|0.873000	0.34254|0.34254	0.811000|0.811000	0.45836|0.45836	-0.150000|-0.150000	0.10189|0.10189	0.522000|0.522000	0.28464|0.28464	0.467000|0.467000	0.42956|0.42956	CGT|GTC	-	HMMPfam_DUF590		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	G	NM_001001891		241811350	+1	no_errors	NM_001001891	genbank	human	validated	54_36p	missense	SNP	0.965	C
