#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
TUBB8	347688	genome.wustl.edu	37	10	93505	93505	+	Missense_Mutation	SNP	C	C	T	rs147114528	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:93505C>T	ENST00000309812.4	-	4	889	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.R204Q|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	276					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R276Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGGCTGCCCCGGCTGGTCAG	0.627																																					Pancreas(192;2041 3010 9013 18103)											1	Substitution - Missense(1)	NS(1)	10											21.0	26.0	24.0					10																	93505		1645	3246	4891	83505	SO:0001583	missense	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.827G>A	10.37:g.93505C>T	ENSP00000311042:p.Arg276Gln		83505	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C	p.R276Q	ENST00000309812.4	37	c.827	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301072	0.23650	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.80994	-1.44	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.094074	0.38326	N	0.001737	T	0.77046	0.4073	M	0.66560	2.04	0.28122	N	0.930544	B;P	0.44776	0.06;0.843	B;P	0.45167	0.009;0.472	T	0.71020	-0.4713	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	239;276	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	204;242;239;276	ENSP00000403895:R204Q	ENSP00000272035:R242Q	R	-	2	0	RP11-631M21.2	83505	0.994000	0.37717	0.219000	0.23793	0.222000	0.24845	3.707000	0.54838	0.119000	0.18210	0.121000	0.15741	CGG	-	superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C		0.627	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	protein_coding	OTTHUMT00000467795.1	C	NM_177987		83505	-1	no_errors	NM_177987	genbank	human	provisional	54_36p	missense	SNP	1.000	T
PIGG	54872	genome.wustl.edu	37	4	524364	524364	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr4:524364T>G	ENST00000453061.2	+	11	2507	c.2401T>G	c.(2401-2403)Tta>Gta	p.L801V	PIGG_ENST00000504346.1_Missense_Mutation_p.L712V|PIGG_ENST00000310340.5_Missense_Mutation_p.L793V|PIGG_ENST00000383028.4_Missense_Mutation_p.L668V|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	801					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATATAGTGGATTAGTTCTTCT	0.413																																																0			4											238.0	231.0	233.0					4																	524364		2203	4300	6503	514364	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2401T>G	4.37:g.524364T>G	ENSP00000415203:p.Leu801Val		514364	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	superfamily_Alkaline_phosphatase_core	p.L793V	ENST00000453061.2	37	c.2377	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904629	0.17760	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.11821	3.07;3.07;2.74;2.74	5.62	-1.61	0.08399	.	0.138228	0.50627	D	0.000118	T	0.10078	0.0247	L	0.35723	1.085	0.46376	D	0.99901	B;B;B	0.31503	0.326;0.19;0.288	B;B;B	0.32928	0.155;0.072;0.151	T	0.11842	-1.0571	10	0.40728	T	0.16	-7.7844	10.5165	0.44892	0.0:0.5042:0.0:0.4958	.	668;801;793	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	V	793;801;712;668	ENSP00000311750:L793V;ENSP00000415203:L801V;ENSP00000424800:L712V;ENSP00000372494:L668V	ENSP00000311750:L793V	L	+	1	2	PIGG	514364	0.001000	0.12720	0.000000	0.03702	0.186000	0.23388	-0.479000	0.06567	-0.410000	0.07542	0.533000	0.62120	TTA	-	NULL		0.413	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	protein_coding	OTTHUMT00000357494.1	T	NM_017733		514364	+1	no_errors	NM_017733	genbank	human	validated	54_36p	missense	SNP	0.473	G
IFT140	9742	genome.wustl.edu	37	16	1633336	1633336	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:1633336C>G	ENST00000426508.2	-	12	1774	c.1411G>C	c.(1411-1413)Gga>Cga	p.G471R	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	471					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATCGCGGCTCCAGAAAGCTCG	0.567																																																0			16											88.0	71.0	77.0					16																	1633336		2199	4300	6499	1573337	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1411G>C	16.37:g.1633336C>G	ENSP00000406012:p.Gly471Arg		1573337	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like	p.G471R	ENST00000426508.2	37	c.1411	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132480	0.21041	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.70282	-0.47	5.48	5.48	0.80851	.	0.057687	0.64402	D	0.000001	T	0.81959	0.4933	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.67145	0.982;0.996	P;D	0.66716	0.813;0.946	T	0.82159	-0.0595	10	0.49607	T	0.09	.	16.5088	0.84279	0.0:1.0:0.0:0.0	.	471;196	Q96RY7;B4DR58	IF140_HUMAN;.	R	471	ENSP00000406012:G471R	ENSP00000380562:G471R	G	-	1	0	IFT140	1573337	1.000000	0.71417	0.943000	0.38184	0.003000	0.03518	6.728000	0.74769	2.567000	0.86603	0.655000	0.94253	GGA	-	superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1573337	-1	no_errors	NM_014714	genbank	human	validated	54_36p	missense	SNP	0.856	G
RFX3	5991	genome.wustl.edu	37	9	3225132	3225132	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:3225132G>A	ENST00000382004.3	-	18	2471	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	720					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTGGATTCAGGAGGCTTGGTT	0.488																																																0			9											124.0	113.0	117.0					9																	3225132		2203	4300	6503	3215132	SO:0001819	synonymous_variant	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2160C>T	9.37:g.3225132G>A			3215132	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	"HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain"	p.L720	ENST00000382004.3	37	c.2160	CCDS6449.1	9																																																																																			-	NULL		0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	protein_coding	OTTHUMT00000051545.1	G	NM_002919		3215132	-1	no_errors	NM_134428	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TUBAL3	79861	genome.wustl.edu	37	10	5436132	5436132	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:5436132G>T	ENST00000380419.3	-	4	726	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S190Y	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	230					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCTGGCATGAGAGGGGCATTC	0.507																																																0			10											148.0	128.0	135.0					10																	5436132		2203	4300	6503	5426132	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.689C>A	10.37:g.5436132G>T	ENSP00000369784:p.Ser230Tyr		5426132	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C	p.S230Y	ENST00000380419.3	37	c.689	CCDS7066.2	10	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585410	0.28268	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70986	-0.53;-0.53	4.2	4.2	0.49525	Tubulin/FtsZ, GTPase domain (4);	0.139357	0.33916	N	0.004433	D	0.84656	0.5520	M	0.85299	2.745	0.48236	D	0.999611	D;D	0.69078	0.989;0.997	P;D	0.69479	0.748;0.964	D	0.87765	0.2601	10	0.72032	D	0.01	.	16.0115	0.80406	0.0:0.0:1.0:0.0	.	190;230	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	Y	230;190	ENSP00000369784:S230Y;ENSP00000418799:S190Y	ENSP00000369784:S230Y	S	-	2	0	TUBAL3	5426132	1.000000	0.71417	0.568000	0.28447	0.011000	0.07611	9.531000	0.98054	2.292000	0.77174	0.650000	0.86243	TCT	-	superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin		0.507	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	protein_coding	OTTHUMT00000046548.2	G	NM_024803		5426132	-1	no_errors	NM_024803	genbank	human	validated	54_36p	missense	SNP	1.000	T
PMS2	5395	genome.wustl.edu	37	7	6018254	6018254	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:6018254C>A	ENST00000265849.7	-	13	2353	c.2248G>T	c.(2248-2250)Ggc>Tgc	p.G750C	PMS2_ENST00000382321.4_Missense_Mutation_p.G349C|PMS2_ENST00000441476.2_Missense_Mutation_p.G644C|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	750					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAATCAAAGCCATTCTTTCTA	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0			7											100.0	81.0	88.0					7																	6018254		2197	4284	6481	5984780	SO:0001583	missense	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2248G>T	7.37:g.6018254C>A	ENSP00000265849:p.Gly750Cys		5984780	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_DNA_mis_repair,HMMPfam_MutL_C	p.G750C	ENST00000265849.7	37	c.2248	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618739	0.87460	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	D;D;D	0.97553	-4.43;-4.43;-4.43	5.73	5.73	0.89815	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99226	1.0880	10	0.87932	D	0	-15.8826	18.8876	0.92385	0.0:1.0:0.0:0.0	.	349;750;644	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	C	750;703;349;644	ENSP00000265849:G750C;ENSP00000371758:G349C;ENSP00000392843:G644C	ENSP00000265849:G750C	G	-	1	0	PMS2	5984780	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.273000	0.78527	2.707000	0.92482	0.555000	0.69702	GGC	-	HMMPfam_MutL_C		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	protein_coding	OTTHUMT00000207353.3	C	NM_000535		5984780	-1	no_errors	NM_000535	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TNFRSF1A	7132	genome.wustl.edu	37	12	6438478	6438478	+	Nonstop_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr12:6438478T>A	ENST00000162749.2	-	10	1667	c.1368A>T	c.(1366-1368)tgA>tgT	p.*456C	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Nonstop_Mutation_p.*413C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	0					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGGCGCAGCCTCATCTGAGAA	0.677																																																0			12											10.0	13.0	12.0					12																	6438478		1816	3702	5518	6308739	SO:0001578	stop_lost	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1368A>T	12.37:g.6438478T>A			6308739	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Nonstop_Mutation	SNP	superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death	p.*456C	ENST00000162749.2	37	c.1368	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718840	0.30503	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	.	.	.	4.69	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.30965	N	0.723161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3794	0.26847	0.194:0.0:0.0:0.806	.	.	.	.	C	456;413	.	.	X	-	3	0	TNFRSF1A	6308739	0.597000	0.26874	0.104000	0.21259	0.007000	0.05969	1.536000	0.36072	0.784000	0.33661	0.459000	0.35465	TGA	-	NULL		0.677	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	protein_coding	OTTHUMT00000399038.1	T	NM_001065		6308739	-1	no_errors	NM_001065	genbank	human	reviewed	54_36p	nonstop	SNP	0.010	A
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7518915	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ARHGEF15	22899	genome.wustl.edu	37	17	8218746	8218746	+	Silent	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:8218746G>T	ENST00000361926.3	+	7	1385	c.1275G>T	c.(1273-1275)gtG>gtT	p.V425V	ARHGEF15_ENST00000421050.1_Silent_p.V425V|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	425	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTTTCGAGGTGGTGACGTCCG	0.632																																																0			17											140.0	134.0	136.0					17																	8218746		2203	4300	6503	8159471	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1275G>T	17.37:g.8218746G>T			8159471	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729	p.V425	ENST00000361926.3	37	c.1275	CCDS11139.1	17																																																																																			-	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF		0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	protein_coding	OTTHUMT00000226993.2	G	NM_173728		8159471	+1	no_errors	NM_173728	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9074909	9074909	+	Silent	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:9074909T>C	ENST00000397910.4	-	3	12740	c.12537A>G	c.(12535-12537)caA>caG	p.Q4179Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4181	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGCCCTTGTGATGTCA	0.522																																																0			19											148.0	139.0	141.0					19																	9074909		1988	4155	6143	8935909	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12537A>G	19.37:g.9074909T>C			8935909	Q6ZQW5|Q96RK2	Silent	SNP	PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.Q4179	ENST00000397910.4	37	c.12537	CCDS54212.1	19																																																																																			-	NULL		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	T	NM_024690		8935909	-1	no_errors	NM_024690	genbank	human	validated	54_36p	silent	SNP	0.000	C
FARSA	2193	genome.wustl.edu	37	19	13034963	13034963	+	Splice_Site	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:13034963A>T	ENST00000314606.4	-	12	1407		c.e12+1		FARSA_ENST00000588025.1_Splice_Site|FARSA_ENST00000423140.2_Splice_Site	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit						gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TTGGGCACTTACCGCTCCAGG	0.592																																																0			19											54.0	57.0	56.0					19																	13034963		2203	4300	6503	12895963	SO:0001630	splice_region_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1388+1T>A	19.37:g.13034963A>T			12895963	B4E363|Q9NSD8|Q9Y4W8	Splice_Site	SNP	-	e12+2	ENST00000314606.4	37	c.1388+2	CCDS12287.1	19	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617545	0.87359	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5203	0.61563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FARSA	12895963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.696000	0.91302	1.897000	0.54924	0.533000	0.62120	.	-	-		0.592	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	protein_coding	OTTHUMT00000451935.1	A	NM_004461	Intron	12895963	-1	no_errors	NM_004461	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
XPC	7508	genome.wustl.edu	37	3	14199829	14199829	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:14199829C>G	ENST00000285021.7	-	9	1768	c.1554G>C	c.(1552-1554)gaG>gaC	p.E518D	XPC_ENST00000449060.2_Missense_Mutation_p.E481D	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	518	Interaction with RAD23B.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTGCCTTCTCACCATCGC	0.517			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0			3											168.0	146.0	153.0					3																	14199829		1568	3582	5150	14174831	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1554G>C	3.37:g.14199829C>G	ENSP00000285021:p.Glu518Asp		14174831	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	HMMPfam_Rad4,HMMPfam_BHD_1,HMMPfam_BHD_2,HMMPfam_BHD_3	p.E516D	ENST00000285021.7	37	c.1548	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467219	0.26335	.	.	ENSG00000154767	ENST00000285021;ENST00000538683;ENST00000449060;ENST00000542703	T;T	0.23348	1.91;1.91	5.8	1.46	0.22682	Rad4/PNGase transglutaminase-like fold (1);	0.577069	0.19027	N	0.124675	T	0.21921	0.0528	L	0.45581	1.43	0.19945	N	0.99994	P;P	0.37423	0.594;0.594	B;B	0.43052	0.406;0.406	T	0.11324	-1.0592	10	0.21540	T	0.41	-19.6262	4.9272	0.13900	0.217:0.4492:0.0:0.3337	.	481;518	E9PH69;Q01831	.;XPC_HUMAN	D	518;14;481;6	ENSP00000285021:E518D;ENSP00000404002:E481D	ENSP00000285021:E518D	E	-	3	2	XPC	14174831	0.034000	0.19679	0.007000	0.13788	0.005000	0.04900	0.846000	0.27682	0.361000	0.24292	-0.150000	0.13652	GAG	-	HMMPfam_Rad4		0.517	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	protein_coding	OTTHUMT00000340517.3	C	NM_004628		14174831	-1	no_errors	ENST00000285021	ensembl	human	known	54_36p	missense	SNP	0.748	G
PADI4	23569	genome.wustl.edu	37	1	17664577	17664577	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:17664577G>A	ENST00000375448.4	+	5	479	c.453G>A	c.(451-453)ctG>ctA	p.L151L	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	151					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCATCCTGCTGGTGAACTGTG	0.537																																																0			1											129.0	110.0	116.0					1																	17664577		2203	4300	6503	17537164	SO:0001819	synonymous_variant	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.453G>A	1.37:g.17664577G>A			17537164	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein	p.L151	ENST00000375448.4	37	c.453	CCDS180.1	1																																																																																			-	HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain		0.537	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	protein_coding	OTTHUMT00000006799.1	G	NM_012387		17537164	+1	no_errors	NM_012387	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ZNF74	7625	genome.wustl.edu	37	22	20760473	20760473	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:20760473G>A	ENST00000400451.2	+	5	1664	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	ZNF74_ENST00000356671.5_Missense_Mutation_p.G384S|ZNF74_ENST00000405993.1_Missense_Mutation_p.G352S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	384					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CATCCACACGGGCGAGAAGCC	0.652																																																0			22											46.0	59.0	55.0					22																	20760473		2203	4300	6503	19090473	SO:0001583	missense	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1150G>A	22.37:g.20760473G>A	ENSP00000383301:p.Gly384Ser		19090473	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.G384S	ENST00000400451.2	37	c.1150	CCDS42982.1	22	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516836	0.85495	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.25085	1.82;1.82;1.82	3.83	3.83	0.44106	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001326	T	0.43743	0.1261	L	0.50333	1.59	0.29011	N	0.886874	D	0.76494	0.999	D	0.76071	0.987	T	0.26950	-1.0088	10	0.87932	D	0	-38.8651	14.0239	0.64573	0.0:0.0:1.0:0.0	.	384	Q16587	ZNF74_HUMAN	S	384;384;352	ENSP00000383301:G384S;ENSP00000349098:G384S;ENSP00000385855:G352S	ENSP00000349098:G384S	G	+	1	0	ZNF74	19090473	1.000000	0.71417	0.749000	0.31150	0.983000	0.72400	7.293000	0.78740	2.435000	0.82474	0.655000	0.94253	GGC	-	superfamily_C2H2 and C2HC zinc fingers		0.652	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	protein_coding	OTTHUMT00000319648.2	G	NM_003426		19090473	+1	no_errors	NM_003426	genbank	human	validated	54_36p	missense	SNP	0.946	A
D86994.2	0	genome.wustl.edu	37	22	23006933	23006933	+	RNA	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:23006933C>A	ENST00000385099.1	+	0	36																											GCTCTCGGGACGTCTCCACCA	0.627																																																0			22																																								21336933			0																															22.37:g.23006933C>A			21336933		RNA	SNP	-	NULL	ENST00000385099.1	37	NULL		22																																																																																			-	-		0.627	D86994.2-201	NOVEL	basic	miRNA	ENSG00000207834	miRNA		C			21336933	+1	no_errors	ENST00000385099	ensembl	human	novel	54_36p	rna	SNP	0.124	A
ACIN1	22985	genome.wustl.edu	37	14	23549131	23549131	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:23549131G>A	ENST00000262710.1	-	6	1914	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	ACIN1_ENST00000605057.1_Silent_p.L471L|ACIN1_ENST00000555053.1_Silent_p.L529L|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Silent_p.L489L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	529					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTTAGAGGGAGGGGCTGAG	0.483																																																0			14											120.0	128.0	125.0					14																	23549131		2203	4300	6503	22618971	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1587C>T	14.37:g.23549131G>A			22618971	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_RNA-binding domain RBD	p.L529	ENST00000262710.1	37	c.1587	CCDS9587.1	14																																																																																			-	NULL		0.483	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	protein_coding	OTTHUMT00000071707.3	G	NM_014977		22618971	-1	no_errors	NM_014977	genbank	human	validated	54_36p	silent	SNP	0.388	A
SNHG14	104472715	genome.wustl.edu	37	15	25448440	25448440	+	RNA	SNP	G	G	A	rs540122636		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:25448440G>A	ENST00000424208.1	+	0	2163				SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTCTCAAAAGGATTATGCTGA	0.512																																																0			15											197.0	210.0	206.0					15																	25448440		876	1989	2865	22999533			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25448440G>A			22999533		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			-	-		0.512	SNHG14-002	KNOWN	basic	antisense	SNORD115-18	processed_transcript	OTTHUMT00000126729.2	G			22999533	+1	no_errors	NR_003310	genbank	human	provisional	54_36p	rna	SNP	0.884	A
RAB34	83871	genome.wustl.edu	37	17	27043021	27043021	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:27043021G>T	ENST00000395245.3	-	3	828	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	RAB34_ENST00000453384.3_Missense_Mutation_p.L126I|RAB34_ENST00000395243.3_Missense_Mutation_p.L68I|RAB34_ENST00000395242.2_Missense_Mutation_p.L69I|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000450529.1_Missense_Mutation_p.L68I|RAB34_ENST00000447716.1_Missense_Mutation_p.L125I|RAB34_ENST00000436730.3_Missense_Mutation_p.L68I|RAB34_ENST00000301043.6_Missense_Mutation_p.L68I	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	68					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTATTAATGAGGCAAGTCTTC	0.582																																					Pancreas(175;216 2049 29940 32498 41589)											0			17											79.0	79.0	79.0					17																	27043021		2203	4300	6503	24067148	SO:0001583	missense	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.202C>A	17.37:g.27043021G>T	ENSP00000378666:p.Leu68Ile		24067148	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176	p.L68I	ENST00000395245.3	37	c.202	CCDS11240.1	17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246988	0.39697	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	L	0.28115	0.83	0.43724	D	0.996200	D;D;D;D;D;D	0.89917	0.999;0.966;1.0;0.988;0.972;1.0	D;P;D;D;P;D	0.87578	0.998;0.822;0.998;0.951;0.823;0.998	D	0.90883	0.4755	9	0.87932	D	0	-20.3291	12.2515	0.54601	0.0777:0.0:0.9223:0.0	.	126;68;91;91;69;68	E7ES60;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;.;RAB34_HUMAN	I	126;125;68;68;91;69;68;91;69;68;68	ENSP00000413156:L126I;ENSP00000410403:L125I;ENSP00000301043:L68I;ENSP00000378664:L68I;ENSP00000378663:L69I;ENSP00000378666:L68I;ENSP00000398706:L68I;ENSP00000226259:L68I	ENSP00000301043:L68I	L	-	1	0	RAB34	24067148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.559000	0.53756	2.812000	0.96745	0.563000	0.77884	CTC	-	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176		0.582	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RAB34	protein_coding	OTTHUMT00000345906.1	G	NM_031934		24067148	-1	no_errors	NM_031934	genbank	human	validated	54_36p	missense	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26688600	26688600	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:26688600G>A	ENST00000248933.6	+	2	418	c.323G>A	c.(322-324)cGc>cAc	p.R108H	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R108H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R108H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R108H|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R108H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	108					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGGAGGCCCGCCCCAAGCAC	0.652																																																0			22											43.0	36.0	38.0					22																	26688600		2202	4300	6502	25018600	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.323G>A	22.37:g.26688600G>A	ENSP00000248933:p.Arg108His		25018600	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB	p.R108H	ENST00000248933.6	37	c.323	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613993	0.28712	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.15	-2.48	0.06423	.	2.597300	0.01885	N	0.038158	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	P;P;P;D;P;P	0.58268	0.696;0.474;0.798;0.982;0.474;0.474	B;B;B;B;B;B	0.38562	0.064;0.064;0.135;0.276;0.064;0.064	T	0.21075	-1.0256	10	0.45353	T	0.12	.	6.2621	0.20905	0.2442:0.5478:0.208:0.0	.	108;108;108;108;108;108	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	108	ENSP00000384772:R108H;ENSP00000437037:R108H;ENSP00000354185:R108H;ENSP00000248933:R108H;ENSP00000342661:R108H	ENSP00000248933:R108H	R	+	2	0	SEZ6L	25018600	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.131000	0.10482	-0.178000	0.10672	-0.357000	0.07601	CGC	-	NULL		0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	G			25018600	+1	no_errors	NM_021115	genbank	human	validated	54_36p	missense	SNP	0.000	A
LRMP	4033	genome.wustl.edu	37	12	25257309	25257309	+	Nonsense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr12:25257309C>G	ENST00000354454.3	+	19	1890	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	LRMP_ENST00000547044.1_Nonsense_Mutation_p.S354*|LRMP_ENST00000548766.1_Nonsense_Mutation_p.S354*	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	410	Poly-Asp.				immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ATTTTGGGGTCAAAGCAGAGT	0.373																																																0			12											124.0	113.0	117.0					12																	25257309		2203	4300	6503	25148576	SO:0001587	stop_gained	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.1061C>G	12.37:g.25257309C>G	ENSP00000346442:p.Ser354*		25148576	A0AVM2|B4E077|Q8N301	Nonsense_Mutation	SNP	HMMPfam_MRVI1	p.S354*	ENST00000354454.3	37	c.1061	CCDS8701.1	12	.	.	.	.	.	.	.	.	.	.	C	43	10.503517	0.99417	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	.	.	.	5.47	5.47	0.80525	.	0.914335	0.09327	N	0.817412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.1773	17.9082	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	X	354;301;354;354	.	ENSP00000346442:S354X	S	+	2	0	LRMP	25148576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.150000	0.50662	2.542000	0.85734	0.650000	0.86243	TCA	-	HMMPfam_MRVI1		0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRMP	protein_coding	OTTHUMT00000407870.1	C	NM_006152		25148576	+1	no_errors	NM_006152	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	G
GPR113	165082	genome.wustl.edu	37	2	26534724	26534724	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:26534724G>A	ENST00000311519.1	-	11	1871	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	GPR113_ENST00000421160.2_Silent_p.S555S|GPR113_ENST00000541401.1_Silent_p.S227S|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.S425S	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	624					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGAGATGCTGTAGTCAG	0.567																																																0			2											45.0	42.0	43.0					2																	26534724		2203	4300	6503	26388228	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1872C>T	2.37:g.26534724G>A			26388228	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.S425	ENST00000311519.1	37	c.1275	CCDS46239.1	2																																																																																			-	NULL		0.567	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26388228	-1	no_errors	NM_153835	genbank	human	validated	54_36p	silent	SNP	0.002	A
MAP3K6	9064	genome.wustl.edu	37	1	27690832	27690832	+	Silent	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:27690832C>G	ENST00000493901.1	-	5	797	c.558G>C	c.(556-558)cgG>cgC	p.R186R	MAP3K6_ENST00000357582.2_Silent_p.R186R|MAP3K6_ENST00000374040.3_Silent_p.R178R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACACAGCACCCGACCAGTGG	0.652																																																0			1											85.0	84.0	85.0					1																	27690832		2203	4300	6503	27563419	SO:0001819	synonymous_variant	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.558G>C	1.37:g.27690832C>G			27563419	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM/Pointed domain	p.R186	ENST00000493901.1	37	c.558	CCDS299.1	1																																																																																			-	NULL		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27563419	-1	no_errors	NM_004672	genbank	human	reviewed	54_36p	silent	SNP	0.942	G
NOL4L	140688	genome.wustl.edu	37	20	31043994	31043994	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:31043994G>A	ENST00000359676.5	-	3	456	c.314C>T	c.(313-315)tCc>tTc	p.S105F	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		105						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGAGGGGTAGGAGGCTGTGCC	0.687																																																0			20											57.0	58.0	57.0					20																	31043994		2202	4298	6500	30507655	SO:0001583	missense	140688																														ENST00000359676.5:c.314C>T	20.37:g.31043994G>A	ENSP00000352704:p.Ser105Phe		30507655	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	PatternScan_ILVD_EDD_1	p.S105F	ENST00000359676.5	37	c.314	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932118	0.52866	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	5.15	4.18	0.49190	.	0.760161	0.12248	N	0.485887	T	0.54303	0.1850	L	0.39898	1.24	0.80722	D	1	P	0.40794	0.729	B	0.41946	0.371	T	0.53129	-0.8482	9	0.52906	T	0.07	-4.7306	14.604	0.68463	0.0:0.1468:0.8532:0.0	.	105	Q96MY1	CT112_HUMAN	F	105	.	ENSP00000352704:S105F	S	-	2	0	C20orf112	30507655	1.000000	0.71417	0.744000	0.31058	0.169000	0.22640	5.169000	0.64984	1.129000	0.42072	0.561000	0.74099	TCC	-	NULL		0.687	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	protein_coding	OTTHUMT00000078628.2	G			30507655	-1	no_errors	NM_080616	genbank	human	validated	54_36p	missense	SNP	0.499	A
TMPPE	643853	genome.wustl.edu	37	3	33135657	33135657	+	Missense_Mutation	SNP	C	C	T	rs199657885		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:33135657C>T	ENST00000342462.4	-	2	221	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	11						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A11T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GTGGCCTTCGCGCCTAGGGAC	0.582																																																1	Substitution - Missense(1)	large_intestine(1)	3											59.0	58.0	58.0					3																	33135657		2201	4299	6500	33110661	SO:0001583	missense	0			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.31G>A	3.37:g.33135657C>T	ENSP00000343398:p.Ala11Thr		33110661	B2RNG5|Q6ZRG1	Missense_Mutation	SNP	HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases	p.A11T	ENST00000342462.4	37	c.31	CCDS33732.1	3	.	.	.	.	.	.	.	.	.	.	C	4.598	0.111049	0.08831	.	.	ENSG00000188167	ENST00000342462	.	.	.	5.66	0.092	0.14470	.	2.434530	0.03134	U	0.165526	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.08106	-1.0738	9	0.18710	T	0.47	0.815	4.5852	0.12279	0.3007:0.4588:0.0:0.2405	.	11	Q6ZT21	TMPPE_HUMAN	T	11	.	ENSP00000343398:A11T	A	-	1	0	TMPPE	33110661	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.108000	0.15396	-0.285000	0.09089	-0.310000	0.09108	GCG	-	NULL		0.582	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPPE	protein_coding	OTTHUMT00000341566.1	C	NM_001039770		33110661	-1	no_errors	NM_001039770	genbank	human	validated	54_36p	missense	SNP	0.002	T
Unknown	0	genome.wustl.edu	37	16	33408665	33408665	+	IGR	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:33408665T>A								RP11-23E10.4 (41852 upstream) : BMS1P8 (88497 downstream)																							CTGCTGAACCTGATCGACGCC	0.597																																																0			16																																								33316166	SO:0001628	intergenic_variant	647211																															16.37:g.33408665T>A			33316166		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.597					LOC647211			T			33316166	+1	pseudogene	XR_017499	genbank	human	model	54_36p	rna	SNP	0.532	A
TBC1D22B	55633	genome.wustl.edu	37	6	37252187	37252187	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:37252187G>A	ENST00000373491.3	+	6	894	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	250	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGGCTTCATTGAACAGTATTA	0.473																																																0			6											126.0	114.0	118.0					6																	37252187		2203	4300	6503	37360165	SO:0001583	missense	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.748G>A	6.37:g.37252187G>A	ENSP00000362590:p.Glu250Lys		37360165	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164	p.E250K	ENST00000373491.3	37	c.748	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522318	0.64747	.	.	ENSG00000065491	ENST00000373491	T	0.10960	2.82	5.95	5.95	0.96441	Rab-GAP/TBC domain (4);	0.051131	0.85682	D	0.000000	T	0.03390	0.0098	N	0.16743	0.435	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42982	-0.9419	10	0.13853	T	0.58	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	250	Q9NU19	TB22B_HUMAN	K	250	ENSP00000362590:E250K	ENSP00000362590:E250K	E	+	1	0	TBC1D22B	37360165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.156000	0.58138	2.817000	0.96982	0.563000	0.77884	GAA	-	superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164		0.473	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	protein_coding	OTTHUMT00000040402.1	G	NM_017772		37360165	+1	no_errors	NM_017772	genbank	human	validated	54_36p	missense	SNP	1.000	A
CDCA8	55143	genome.wustl.edu	37	1	38166136	38166136	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:38166136G>T	ENST00000373055.1	+	5	639	c.366G>T	c.(364-366)atG>atT	p.M122I	CDCA8_ENST00000327331.2_Missense_Mutation_p.M122I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	122	Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAGATGAAATGATAGTGGAAG	0.383																																																0			1											126.0	122.0	124.0					1																	38166136		2203	4300	6503	37938723	SO:0001583	missense	55143			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.366G>T	1.37:g.38166136G>T	ENSP00000362146:p.Met122Ile		37938723	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	HMMPfam_Borealin	p.M122I	ENST00000373055.1	37	c.366	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403007	0.25291	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.39997	1.05;1.05	4.25	2.34	0.29019	.	0.574961	0.19242	N	0.119140	T	0.30479	0.0766	L	0.44542	1.39	0.24634	N	0.99361	B	0.06786	0.001	B	0.08055	0.003	T	0.17018	-1.0383	10	0.35671	T	0.21	-8.1141	6.3121	0.21171	0.1026:0.1845:0.7129:0.0	.	122	Q53HL2	BOREA_HUMAN	I	122	ENSP00000362146:M122I;ENSP00000316121:M122I	ENSP00000316121:M122I	M	+	3	0	CDCA8	37938723	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.824000	0.39072	0.530000	0.28619	-0.128000	0.14901	ATG	-	HMMPfam_Borealin		0.383	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA8	protein_coding	OTTHUMT00000012473.1	G	NM_018101		37938723	+1	no_errors	NM_018101	genbank	human	validated	54_36p	missense	SNP	0.990	T
PSMC3IP	29893	genome.wustl.edu	37	17	40725173	40725173	+	Silent	SNP	C	C	G	rs146962353		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:40725173C>G	ENST00000393795.3	-	7	657	c.549G>C	c.(547-549)ctG>ctC	p.L183L	MLX_ENST00000246912.4_3'UTR|MLX_ENST00000435881.2_3'UTR|MLX_ENST00000346833.4_3'UTR|PSMC3IP_ENST00000587209.1_Silent_p.L120L|PSMC3IP_ENST00000590760.1_Silent_p.L58L|PSMC3IP_ENST00000253789.5_Silent_p.L171L	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	183					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TTGCATCAGACAGCTCTGTAG	0.478																																																0			17											124.0	120.0	121.0					17																	40725173		2203	4300	6503	37978699	SO:0001819	synonymous_variant	29893			AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.549G>C	17.37:g.40725173C>G			37978699	C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	HMMPfam_TBPIP	p.C183S	ENST00000393795.3	37	c.548	CCDS45688.1	17																																																																																			-	NULL		0.478	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC3IP	protein_coding	OTTHUMT00000450427.1	C	NM_013290		37978699	-1	no_errors	ENST00000393795	ensembl	human	known	54_36p	missense	SNP	0.966	G
EGFLAM	133584	genome.wustl.edu	37	5	38409165	38409165	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr5:38409165T>A	ENST00000354891.3	+	10	1654	c.1308T>A	c.(1306-1308)gaT>gaA	p.D436E	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D202E|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D436E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	436	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAGGGGGGATTTCATGTCCC	0.468																																					Colon(62;485 1295 3347 17454)											0			5											78.0	73.0	75.0					5																	38409165		2203	4300	6503	38444922	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1308T>A	5.37:g.38409165T>A	ENSP00000346964:p.Asp436Glu		38444922	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2	p.D436E	ENST00000354891.3	37	c.1308	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424888	0.83667	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.81078	-1.45;-1.45;-1.45	5.82	-3.04	0.05412	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89677	0.3888	10	0.87932	D	0	-29.0413	12.8901	0.58066	0.0:0.3684:0.0:0.6316	.	202;436;436	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	436;436;202;202	ENSP00000346964:D436E;ENSP00000313084:D436E;ENSP00000337607:D202E	ENSP00000313084:D436E	D	+	3	2	EGFLAM	38444922	0.728000	0.28080	0.759000	0.31340	0.806000	0.45545	-0.156000	0.10100	-0.670000	0.05282	0.533000	0.62120	GAT	-	superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1		0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	T	NM_152403		38444922	+1	no_errors	NM_152403	genbank	human	validated	54_36p	missense	SNP	0.995	A
DSCAM	1826	genome.wustl.edu	37	21	41414566	41414566	+	Silent	SNP	A	A	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr21:41414566A>G	ENST00000400454.1	-	32	5895	c.5418T>C	c.(5416-5418)agT>agC	p.S1806S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1806					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAGGCACTTTCTGTGG	0.522																																					Melanoma(134;970 1778 1785 21664 32388)											0			21											145.0	136.0	139.0					21																	41414566		2132	4246	6378	40336436	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5418T>C	21.37:g.41414566A>G			40336436	O60468	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.S1806	ENST00000400454.1	37	c.5418	CCDS42929.1	21																																																																																			-	NULL		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	A	NM_001389		40336436	-1	no_errors	NM_001389	genbank	human	validated	54_36p	silent	SNP	1.000	G
NHP2L1	4809	genome.wustl.edu	37	22	42071161	42071161	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:42071161C>T	ENST00000401959.1	-	4	479	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	NHP2L1_ENST00000355257.3_Missense_Mutation_p.V55M|NHP2L1_ENST00000402458.1_Missense_Mutation_p.V59M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.V55M	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	55					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GCAGCCATCACGATGAACTCA	0.567																																																0			22											63.0	61.0	61.0					22																	42071161		2203	4300	6503	40401107	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.163G>A	22.37:g.42071161C>T	ENSP00000383949:p.Val55Met		40401107		Missense_Mutation	SNP	superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae,PatternScan_RIBOSOMAL_L7AE	p.V55M	ENST00000401959.1	37	c.163	CCDS14022.1	22	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036879	0.93630	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	M	0.93462	3.42	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	19.4053	0.94646	0.0:1.0:0.0:0.0	.	55	P55769	NH2L1_HUMAN	M	55;55;55;59	ENSP00000347401:V55M;ENSP00000215956:V55M;ENSP00000383949:V55M;ENSP00000383989:V59M	ENSP00000215956:V55M	V	-	1	0	NHP2L1	40401107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.666000	0.90696	0.591000	0.81541	GTG	-	superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae		0.567	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NHP2L1	protein_coding	OTTHUMT00000321682.1	C	NM_001003796		40401107	-1	no_errors	NM_001003796	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
COL9A2	1298	genome.wustl.edu	37	1	40777211	40777211	+	Silent	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:40777211C>A	ENST00000372748.3	-	10	576	c.480G>T	c.(478-480)ccG>ccT	p.P160P		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	160	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGATGGTTCCCGGGCGACCCT	0.632																																																0			1											73.0	76.0	75.0					1																	40777211		2203	4300	6503	40549798	SO:0001819	synonymous_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.480G>T	1.37:g.40777211C>A			40549798	B2RMP9	Silent	SNP	HMMPfam_Collagen	p.P160	ENST00000372748.3	37	c.480	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	.	5.198	0.222034	0.09863	.	.	ENSG00000049089	ENST00000417105	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	4	.	.	.	.	1.8065	0.03082	0.1876:0.1531:0.1997:0.4595	.	.	.	.	W	149	.	.	G	-	1	0	COL9A2	40549798	0.000000	0.05858	0.031000	0.17742	0.667000	0.39255	-5.351000	0.00129	-4.200000	0.00065	-1.012000	0.02466	GGG	-	HMMPfam_Collagen		0.632	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	protein_coding	OTTHUMT00000015764.3	C	NM_001852		40549798	-1	no_errors	NM_001852	genbank	human	reviewed	54_36p	silent	SNP	0.592	A
SPG11	80208	genome.wustl.edu	37	15	44888516	44888516	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:44888516T>G	ENST00000261866.7	-	25	4215	c.4199A>C	c.(4198-4200)cAa>cCa	p.Q1400P	SPG11_ENST00000558319.1_Missense_Mutation_p.Q1400P|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1400P|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1400P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1400					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAAGTGGTCTTGAATGACTGG	0.458																																																0			15											82.0	80.0	80.0					15																	44888516		2198	4298	6496	42675808	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4199A>C	15.37:g.44888516T>G	ENSP00000261866:p.Gln1400Pro		42675808	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	PatternScan_GLYCOSYL_HYDROL_F1_1	p.Q1400P	ENST00000261866.7	37	c.4199	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089699	0.36855	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.80123	-1.34;-1.34;-1.34	5.45	4.34	0.51931	.	0.254315	0.40222	N	0.001153	D	0.86285	0.5896	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71656	0.974;0.956;0.972	D	0.86653	0.1899	10	0.72032	D	0.01	.	7.5683	0.27892	0.0:0.1528:0.0:0.8472	.	1400;1400;1400	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	P	1400	ENSP00000261866:Q1400P;ENSP00000445278:Q1400P;ENSP00000396110:Q1400P	ENSP00000261866:Q1400P	Q	-	2	0	SPG11	42675808	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	2.179000	0.42528	2.061000	0.61500	0.533000	0.62120	CAA	-	NULL		0.458	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	T			42675808	-1	no_errors	NM_025137	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
ZNF662	389114	genome.wustl.edu	37	3	42955999	42955999	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:42955999G>T	ENST00000541208.1	+	5	803	c.434G>T	c.(433-435)gGa>gTa	p.G145V	ZNF662_ENST00000328199.6_Missense_Mutation_p.G171V|ZNF662_ENST00000440367.2_Missense_Mutation_p.G145V|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCAATGGGGGACGTATGGAA	0.438																																																0			3											96.0	98.0	98.0					3																	42955999		2203	4300	6503	42931003	SO:0001583	missense	389114			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.434G>T	3.37:g.42955999G>T	ENSP00000446208:p.Gly145Val		42931003	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.G145V	ENST00000541208.1	37	c.434	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408711	0.04799	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.53423	0.62;0.62;0.62	2.27	-2.77	0.05877	.	.	.	.	.	T	0.26557	0.0649	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.14023	0.01;0.005	T	0.22487	-1.0215	9	0.16420	T	0.52	.	3.7876	0.08707	0.5272:0.2041:0.2688:0.0	.	171;145	F8W7S8;Q6ZS27	.;ZN662_HUMAN	V	145;171;145	ENSP00000405047:G145V;ENSP00000329264:G171V;ENSP00000446208:G145V	ENSP00000329264:G171V	G	+	2	0	ZNF662	42931003	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.559000	0.05971	-0.791000	0.04486	0.555000	0.69702	GGA	-	NULL		0.438	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	protein_coding	OTTHUMT00000256646.4	G	NM_207404		42931003	+1	no_errors	NM_207404	genbank	human	validated	54_36p	missense	SNP	0.000	T
DNAJC19P9	644589	genome.wustl.edu	37	14	45759405	45759405	+	IGR	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:45759405C>G								RNU6-552P (15725 upstream) : RP11-454K7.3 (79012 downstream)																							GGGTTTGAACCCAAAATGACA	0.403																																																0			14																																								44829155	SO:0001628	intergenic_variant	644589																															14.37:g.45759405C>G			44829155		RNA	SNP	-	NULL		37	NULL		14																																																																																			-	-	0	0.403					LOC644589			C			44829155	+1	pseudogene	XR_038836	genbank	human	model	54_36p	rna	SNP	1.000	G
LTBP4	8425	genome.wustl.edu	37	19	41129517	41129517	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:41129517G>A	ENST00000308370.7	+	29	3763	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.E623K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1218K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1188K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1256	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACGTGGACGAATGTCAGCT	0.577																																																0			19											69.0	72.0	71.0					19																	41129517		2097	4232	6329	45821357	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3763G>A	19.37:g.41129517G>A	ENSP00000311905:p.Glu1255Lys		45821357	O00508|O75412|O75413	Missense_Mutation	SNP	superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,superfamily_Fibril-assoc,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Grow_fac_recept	p.E1255K	ENST00000308370.7	37	c.3763		19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319186	0.81469	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	3.84	3.84	0.44239	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.213980	0.23118	U	0.051724	D	0.99045	0.9673	.	.	.	0.58432	D	0.999991	D;D;B;P;P;P	0.89917	1.0;1.0;0.355;0.739;0.873;0.873	D;D;B;B;B;B	0.83275	0.996;0.996;0.066;0.195;0.183;0.183	D	0.99470	1.0945	9	0.87932	D	0	.	14.6413	0.68726	0.0:0.0:1.0:0.0	.	16;268;476;1188;1256;1218	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	K	1218;623;1255;1188;16	ENSP00000204005:E1218K;ENSP00000441054:E623K;ENSP00000311905:E1255K;ENSP00000380031:E1188K	ENSP00000204005:E1218K	E	+	1	0	LTBP4	45821357	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.301000	0.96167	1.972000	0.57404	0.313000	0.20887	GAA	-	PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196		0.577	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	protein_coding		G	NM_003573		45821357	+1	no_errors	ENST00000308370	ensembl	human	known	54_36p	missense	SNP	1.000	A
ARHGEF1	9138	genome.wustl.edu	37	19	42409966	42409966	+	Silent	SNP	G	G	A	rs149372116	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:42409966G>A	ENST00000354532.3	+	25	2539	c.2391G>A	c.(2389-2391)acG>acA	p.T797T	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_Silent_p.T764T|ARHGEF1_ENST00000337665.4_Silent_p.T812T|ARHGEF1_ENST00000378152.4_Silent_p.T779T|ARHGEF1_ENST00000599846.1_Silent_p.T853T	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	797					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCGAGAGACGTCTCCAGCTG	0.662													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18733	0.0		0.002	False		,,,				2504	0.0															0			19							,,	1,4405	2.1+/-5.4	0,1,2202	63.0	58.0	59.0		2391,2292,2436	-1.4	0.1	19	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF1	NM_004706.3,NM_198977.1,NM_199002.1	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	797/913,764/880,812/928	42409966	6,13000	2203	4300	6503	47101806	SO:0001819	synonymous_variant	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2391G>A	19.37:g.42409966G>A			47101806	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH	p.T812	ENST00000354532.3	37	c.2436	CCDS12591.1	19																																																																																			-	NULL		0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	protein_coding	OTTHUMT00000463360.1	G	NM_199002		47101806	+1	no_errors	NM_199002	genbank	human	reviewed	54_36p	silent	SNP	0.523	A
PTCHD4	442213	genome.wustl.edu	37	6	47976601	47976601	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:47976601A>T	ENST00000339488.4	-	2	709	c.676T>A	c.(676-678)Ttt>Att	p.F226I	PTCHD4_ENST00000543600.1_Missense_Mutation_p.F209I	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	226						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GTCTTATGAAAGTCCCTCCAG	0.527																																																0			6											72.0	72.0	72.0					6																	47976601		1975	4181	6156	48084560	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.676T>A	6.37:g.47976601A>T	ENSP00000341914:p.Phe226Ile		48084560	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	HMMPfam_Patched,superfamily_SSF82866	p.F209I	ENST00000339488.4	37	c.625	CCDS34473.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.582380|4.582380	0.86748|0.86748	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.83837|.	-1.77;-1.77|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68869|0.68869	0.3048|0.3048	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.302;0.997|.	B;D|.	0.80764|.	0.205;0.994|.	T|T	0.68981|0.68981	-0.5266|-0.5266	10|5	0.27082|.	T|.	0.32|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	226;209|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	I|H	226;209|225	ENSP00000341914:F226I;ENSP00000439864:F209I|.	ENSP00000341914:F226I|.	F|L	-|-	1|2	0|0	C6orf138|C6orf138	48084560|48084560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.962000|8.962000	0.93254|0.93254	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TTT|CTT	-	HMMPfam_Patched,superfamily_SSF82866		0.527	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf138	protein_coding	OTTHUMT00000317987.2	A	NM_001013732		48084560	-1	no_errors	NM_001013732	genbank	human	validated	54_36p	missense	SNP	1.000	T
TFAP2B	7021	genome.wustl.edu	37	6	50810825	50810825	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:50810825C>T	ENST00000393655.3	+	7	1272	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T377M	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAAGAATTTACGGATCTACTG	0.562																																					Pancreas(116;1373 2332 5475 10752)											0			6											96.0	101.0	99.0					6																	50810825		2203	4300	6503	50918784	SO:0001583	missense	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1103C>T	6.37:g.50810825C>T	ENSP00000377265:p.Thr368Met		50918784	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	HMMPfam_TF_AP-2	p.T368M	ENST00000393655.3	37	c.1103	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724325	0.48728	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	N	0.16266	0.395	0.58432	D	0.999999	B	0.34226	0.443	B	0.19946	0.027	D	0.86851	0.2023	10	0.20046	T	0.44	-11.8512	17.8403	0.88713	0.0:1.0:0.0:0.0	.	368	Q92481	AP2B_HUMAN	M	368;377	ENSP00000377265:T368M;ENSP00000263046:T377M	ENSP00000263046:T377M	T	+	2	0	TFAP2B	50918784	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.089000	0.71384	2.214000	0.71695	0.655000	0.94253	ACG	-	HMMPfam_TF_AP-2		0.562	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	protein_coding	OTTHUMT00000040886.3	C	NM_003221		50918784	+1	no_errors	NM_003221	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PNMAL2	57469	genome.wustl.edu	37	19	46997544	46997544	+	Intron	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:46997544C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Silent_p.A393A|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTCGCGGCCCGCCTCTTCCA	0.667																																																0			19											14.0	16.0	15.0					19																	46997544		1916	4069	5985	51689384	SO:0001627	intron_variant	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+444G>A	19.37:g.46997544C>T			51689384	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	NULL	p.A393	ENST00000377655.2	37	c.1179		19																																																																																			-	NULL		0.667	PNMAL2-201	KNOWN	basic	protein_coding	PNMAL2	protein_coding		C	NM_020709		51689384	-1	no_errors	NM_020709	genbank	human	validated	54_36p	silent	SNP	0.035	T
RGS20	8601	genome.wustl.edu	37	8	54870958	54870958	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:54870958G>C	ENST00000297313.3	+	6	1199	c.1107G>C	c.(1105-1107)atG>atC	p.M369I	RGS20_ENST00000344277.6_Missense_Mutation_p.M254I|RGS20_ENST00000276500.4_Missense_Mutation_p.M222I|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.M103I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	369	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CTCGATTCATGAACTCTGCTG	0.353																																																0			8											140.0	113.0	122.0					8																	54870958		2203	4300	6503	55033511	SO:0001583	missense	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.1107G>C	8.37:g.54870958G>C	ENSP00000297313:p.Met369Ile		55033511	Q96BG9	Missense_Mutation	SNP	superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315	p.M369I	ENST00000297313.3	37	c.1107	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774577	0.49786	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.01647	4.71;4.71;4.71;4.71	5.2	5.2	0.72013	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.037056	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00793	-1.18	0.51767	D	0.999938	B;B;B;B;B	0.18013	0.001;0.001;0.002;0.006;0.025	B;B;B;B;B	0.24701	0.002;0.002;0.006;0.018;0.055	T	0.69105	-0.5233	10	0.46703	T	0.11	.	18.7381	0.91764	0.0:0.0:1.0:0.0	.	133;161;222;254;369	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	I	369;254;103;222	ENSP00000297313:M369I;ENSP00000344630:M254I;ENSP00000430627:M103I;ENSP00000276500:M222I	ENSP00000276500:M222I	M	+	3	0	RGS20	55033511	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.561000	0.82288	2.394000	0.81467	0.650000	0.86243	ATG	-	superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315		0.353	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	protein_coding	OTTHUMT00000380058.1	G			55033511	+1	no_errors	NM_170587	genbank	human	validated	54_36p	missense	SNP	1.000	C
OR8I2	120586	genome.wustl.edu	37	11	55861623	55861623	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:55861623C>T	ENST00000302124.2	+	1	871	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATACGATTGTCATTCCCATGC	0.393																																																0			11											56.0	55.0	56.0					11																	55861623		2201	4296	6497	55618199	SO:0001819	synonymous_variant	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.840C>T	11.37:g.55861623C>T			55618199	B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V280	ENST00000302124.2	37	c.840	CCDS31517.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	protein_coding		C	NM_001003750		55618199	+1	no_errors	NM_001003750	genbank	human	provisional	54_36p	silent	SNP	0.875	T
SIGLEC8	27181	genome.wustl.edu	37	19	51958744	51958744	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:51958744T>A	ENST00000321424.3	-	4	1045	c.979A>T	c.(979-981)Acc>Tcc	p.T327S	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.T218S|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.T234S|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	327	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTCGGCAGGTGAATTCCCCT	0.647																																																0			19											58.0	55.0	56.0					19																	51958744		2203	4300	6503	56650556	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.979A>T	19.37:g.51958744T>A	ENSP00000321077:p.Thr327Ser		56650556	Q7Z728	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig	p.T327S	ENST00000321424.3	37	c.979	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044889	0.36085	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.15487	2.42;2.42;2.42	2.19	-0.0352	0.13893	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38837	N	0.001550	T	0.33644	0.0870	M	0.81179	2.53	0.09310	N	1	P;D;D	0.63046	0.843;0.992;0.988	P;D;D	0.68621	0.56;0.959;0.934	T	0.09271	-1.0682	10	0.62326	D	0.03	.	4.5202	0.11956	0.0:0.3361:0.0:0.6639	.	218;234;327	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	S	218;327;234	ENSP00000389142:T218S;ENSP00000321077:T327S;ENSP00000339448:T234S	ENSP00000321077:T327S	T	-	1	0	SIGLEC8	56650556	0.000000	0.05858	0.002000	0.10522	0.153000	0.21895	-1.582000	0.02117	-0.084000	0.12595	0.411000	0.27672	ACC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.647	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	T	NM_014442		56650556	-1	no_errors	NM_014442	genbank	human	validated	54_36p	missense	SNP	0.419	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57068382	57068382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:57068382G>A	ENST00000532437.1	-	9	5416	c.5105C>T	c.(5104-5106)cCt>cTt	p.P1702L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1702L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1702	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGCTTGGGAGGTAACGTGAG	0.562																																																0			11											152.0	134.0	140.0					11																	57068382		2201	4296	6497	56824958	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5105C>T	11.37:g.57068382G>A	ENSP00000437271:p.Pro1702Leu		56824958	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.P1702L	ENST00000532437.1	37	c.5105	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552082	0.86127	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	D;D	0.82711	-1.64;-1.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90535	0.4498	10	0.87932	D	0	-11.6166	15.8222	0.78662	0.0:0.0:1.0:0.0	.	1702;284	Q9C0C2;Q86TK2	TB182_HUMAN;.	L	1702	ENSP00000350990:P1702L;ENSP00000437271:P1702L	ENSP00000350990:P1702L	P	-	2	0	TNKS1BP1	56824958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.635000	0.67841	2.534000	0.85438	0.555000	0.69702	CCT	-	NULL		0.562	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	protein_coding	OTTHUMT00000392455.1	G	NM_033396		56824958	-1	no_errors	NM_033396	genbank	human	validated	54_36p	missense	SNP	0.999	A
ZNF831	128611	genome.wustl.edu	37	20	57770984	57770984	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:57770984A>G	ENST00000371030.2	+	2	3799	c.3799A>G	c.(3799-3801)Aag>Gag	p.K1267E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1267							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGAATGGAAGAAAGGCCT	0.512																																																0			20											181.0	179.0	180.0					20																	57770984		1939	4155	6094	57204379	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3799A>G	20.37:g.57770984A>G	ENSP00000360069:p.Lys1267Glu		57204379	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.K1267E	ENST00000371030.2	37	c.3799	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993486	0.35131	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.37	5.37	0.77165	.	0.322570	0.26808	N	0.022384	T	0.16428	0.0395	L	0.42245	1.32	0.35316	D	0.784319	D	0.69078	0.997	D	0.67548	0.952	T	0.06789	-1.0807	10	0.87932	D	0	-22.2058	12.0557	0.53533	1.0:0.0:0.0:0.0	.	1267	Q5JPB2	ZN831_HUMAN	E	1267	ENSP00000360069:K1267E	ENSP00000360069:K1267E	K	+	1	0	ZNF831	57204379	0.960000	0.32886	0.785000	0.31869	0.179000	0.23085	2.487000	0.45268	2.164000	0.68074	0.533000	0.62120	AAG	-	NULL		0.512	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	A	NM_178457		57204379	+1	no_errors	NM_178457	genbank	human	provisional	54_36p	missense	SNP	0.989	G
DAB1	1600	genome.wustl.edu	37	1	57476871	57476871	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:57476871C>A	ENST00000371231.1	-	14	1652	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	DAB1_ENST00000420954.2_Missense_Mutation_p.D505Y|DAB1_ENST00000371234.4_Missense_Mutation_p.D507Y|DAB1_ENST00000439789.2_Missense_Mutation_p.D421Y|DAB1_ENST00000414851.2_Missense_Mutation_p.D489Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.D507Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	540					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAGATGTCATCTGTGGTA	0.443																																																0			1											136.0	136.0	136.0					1																	57476871		2203	4300	6503	57249459	SO:0001583	missense	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1618G>T	1.37:g.57476871C>A	ENSP00000360275:p.Asp540Tyr		57249459	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID	p.D507Y	ENST00000371231.1	37	c.1519		1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811666	0.70797	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.58940	0.39;0.39;0.39;0.3;1.4;0.43	4.96	4.96	0.65561	.	0.143532	0.64402	D	0.000008	T	0.71962	0.3402	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.995;0.999	D;D;D;D;D	0.74674	0.954;0.965;0.975;0.919;0.984	T	0.73965	-0.3816	10	0.72032	D	0.01	-17.0352	18.7462	0.91794	0.0:1.0:0.0:0.0	.	489;540;507;421;505	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	Y	507;507;507;505;489;421;540	ENSP00000360280:D507Y;ENSP00000360278:D507Y;ENSP00000395296:D505Y;ENSP00000387581:D489Y;ENSP00000409328:D421Y;ENSP00000360275:D540Y	ENSP00000360275:D540Y	D	-	1	0	DAB1	57249459	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.220000	0.78008	2.724000	0.93272	0.555000	0.69702	GAC	-	NULL		0.443	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	C	NM_021080		57249459	-1	no_errors	NM_021080	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM217B	63939	genome.wustl.edu	37	20	58519510	58519510	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:58519510T>G	ENST00000358293.3	+	5	927	c.512T>G	c.(511-513)gTg>gGg	p.V171G	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.V171G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	171																	ACGGAAGCCGTGCCCCGAGTG	0.498																																																0			20											54.0	55.0	54.0					20																	58519510		2203	4300	6503	57952905	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.512T>G	20.37:g.58519510T>G	ENSP00000351040:p.Val171Gly		57952905	B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.V171G	ENST00000358293.3	37	c.512	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	T	9.343	1.063421	0.20067	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26067	1.76;1.76	5.8	-4.13	0.03904	.	1.252530	0.05875	N	0.625394	T	0.12944	0.0314	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26744	-1.0094	10	0.23891	T	0.37	-1.6727	2.728	0.05219	0.1302:0.2905:0.3737:0.2057	.	171	Q9NTX9	CT177_HUMAN	G	171	ENSP00000351040:V171G;ENSP00000354056:V171G	ENSP00000351040:V171G	V	+	2	0	C20orf177	57952905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.056000	0.14256	-0.700000	0.05070	-1.271000	0.01417	GTG	-	NULL		0.498	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf177	protein_coding	OTTHUMT00000268139.1	T	NM_022106		57952905	+1	no_errors	NM_022106	genbank	human	predicted	54_36p	missense	SNP	0.000	G
ZP1	22917	genome.wustl.edu	37	11	60641187	60641187	+	Missense_Mutation	SNP	G	G	A	rs370756235		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:60641187G>A	ENST00000278853.5	+	9	1511	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	504	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTACCAGCGATTCACTGTT	0.582																																																0			11						G	GLN/ARG	0,4406		0,0,2203	128.0	129.0	129.0		1511	5.2	0.9	11		129	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZP1	NM_207341.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	504/639	60641187	1,13003	2203	4299	6502	60397763	SO:0001583	missense	22917			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1511G>A	11.37:g.60641187G>A	ENSP00000278853:p.Arg504Gln		60397763		Missense_Mutation	SNP	superfamily_P_trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1	p.R504Q	ENST00000278853.5	37	c.1511	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202854	0.79127	0.0	1.16E-4	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.85171	-1.95	5.19	5.19	0.71726	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.91612	3.225	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.95308	0.8409	10	0.87932	D	0	-18.4257	18.3256	0.90252	0.0:0.0:1.0:0.0	.	504	P60852	ZP1_HUMAN	Q	504;211	ENSP00000278853:R504Q	ENSP00000278853:R504Q	R	+	2	0	ZP1	60397763	1.000000	0.71417	0.934000	0.37439	0.168000	0.22595	4.131000	0.57970	2.419000	0.82065	0.313000	0.20887	CGA	-	HMMPfam_Zona_pellucida,HMMSmart_ZP		0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	protein_coding	OTTHUMT00000396329.1	G	NM_207341		60397763	+1	no_errors	NM_207341	genbank	human	validated	54_36p	missense	SNP	1.000	A
DIDO1	11083	genome.wustl.edu	37	20	61542565	61542565	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:61542565C>G	ENST00000266070.4	-	3	725	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	DIDO1_ENST00000370368.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.E134Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.E134Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.E134Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E134Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.E134Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	134					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGGTCGTTCCTTCACAGCT	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0			20											69.0	48.0	55.0					20																	61542565		2203	4300	6503	61013010	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.400G>C	20.37:g.61542565C>G	ENSP00000266070:p.Glu134Gln		61013010	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD	p.E134Q	ENST00000266070.4	37	c.400	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009022	0.07912	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19394	3.36;3.36;2.66;2.66;2.15;2.15;2.15;2.16;2.16	5.31	2.27	0.28462	.	0.718981	0.11396	U	0.568347	T	0.12390	0.0301	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.23806	0.002;0.019;0.091;0.055	B;B;B;B	0.17433	0.005;0.007;0.018;0.012	T	0.32981	-0.9886	10	0.21540	T	0.41	-16.9828	7.1945	0.25845	0.0:0.6711:0.1231:0.2059	.	134;134;134;134	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	134	ENSP00000266070:E134Q;ENSP00000378752:E134Q;ENSP00000378749:E134Q;ENSP00000378744:E134Q;ENSP00000359397:E134Q;ENSP00000359394:E134Q;ENSP00000346692:E134Q;ENSP00000359391:E134Q;ENSP00000266071:E134Q	ENSP00000266070:E134Q	E	-	1	0	DIDO1	61013010	0.023000	0.18921	0.002000	0.10522	0.038000	0.13279	0.948000	0.29096	0.624000	0.30286	0.561000	0.74099	GAA	-	NULL		0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61013010	-1	no_errors	NM_033081	genbank	human	reviewed	54_36p	missense	SNP	0.239	G
ESR2	2100	genome.wustl.edu	37	14	64735513	64735513	+	Splice_Site	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:64735513C>A	ENST00000341099.4	-	4	1069	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	ESR2_ENST00000553796.1_Splice_Site_p.G218C|ESR2_ENST00000357782.2_Splice_Site_p.G218C|ESR2_ENST00000542956.1_Splice_Site_p.G218C|ESR2_ENST00000554572.1_Splice_Site_p.G218C|ESR2_ENST00000555278.1_Splice_Site_p.G218C|ESR2_ENST00000557772.1_Splice_Site_p.G218C|ESR2_ENST00000267525.6_Splice_Site_p.G218C|ESR2_ENST00000353772.3_Splice_Site_p.G218C|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Splice_Site_p.G218C	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	218	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AAGCACTCACCACACTTCACC	0.502																																																0			14											119.0	112.0	114.0					14																	64735513		2203	4300	6503	63805266	SO:0001630	splice_region_variant	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.652+1G>T	14.37:g.64735513C>A			63805266	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep	p.G218C	ENST00000341099.4	37	c.652	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.133022	0.94517	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.928;0.976;0.987;0.971	D	0.99253	1.0888	9	.	.	.	.	19.7793	0.96412	0.0:1.0:0.0:0.0	.	218;218;218;218;218	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	C	218	ENSP00000452485:G218C;ENSP00000441792:G218C;ENSP00000450699:G218C;ENSP00000335551:G218C;ENSP00000351412:G218C;ENSP00000450488:G218C;ENSP00000452426:G218C;ENSP00000350427:G218C;ENSP00000451582:G218C;ENSP00000343925:G218C;ENSP00000267525:G218C	.	G	-	1	0	ESR2	63805266	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.731000	0.84895	2.678000	0.91216	0.555000	0.69702	GGC	-	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain		0.502	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	protein_coding	OTTHUMT00000280621.1	C		Missense_Mutation	63805266	-1	no_errors	NM_001437	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
E2F4	1874	genome.wustl.edu	37	16	67233262	67233262	+	IGR	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:67233262C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Silent_p.A64A|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000360833.1_Silent_p.A64A|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGAAGATTGCCATCAAGATGC	0.682																																																0			16											31.0	39.0	37.0					16																	67233262		2109	4223	6332	65790763	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233262C>T			65790763	A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	HMMPfam_ELMO_CED12,superfamily_SSF50729,HMMSmart_PH	p.A64	ENST00000379378.3	37	c.192	CCDS32464.1	16																																																																																			-	NULL		0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	protein_coding	OTTHUMT00000421565.1	C	NM_001950		65790763	+1	no_errors	NM_024712	genbank	human	reviewed	54_36p	silent	SNP	0.994	T
HYDIN	54768	genome.wustl.edu	37	16	71059322	71059322	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:71059322C>T	ENST00000393567.2	-	21	3300	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	HYDIN_ENST00000448089.2_Intron	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1050					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGTGGAGAGCTGGATGAGAG	0.552																																																0			16											1.0	1.0	1.0					16																	71059322		97	279	376	69616823	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3150G>A	16.37:g.71059322C>T			69616823	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q1050	ENST00000393567.2	37	c.3150	CCDS59269.1	16																																																																																			-	NULL		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C			69616823	-1	no_errors	NM_032821	genbank	human	validated	54_36p	silent	SNP	0.509	T
MYO9A	4649	genome.wustl.edu	37	15	72170417	72170417	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:72170417C>T	ENST00000356056.5	-	31	6367	c.5895G>A	c.(5893-5895)atG>atA	p.M1965I	MYO9A_ENST00000424560.1_Missense_Mutation_p.M2036I|MYO9A_ENST00000444904.1_Missense_Mutation_p.M1946I|MYO9A_ENST00000564571.1_Missense_Mutation_p.M1965I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1965	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGAATTCATTCATATATTCAT	0.348																																																0			15											71.0	73.0	73.0					15																	72170417		2199	4297	6496	69957471	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5895G>A	15.37:g.72170417C>T	ENSP00000348349:p.Met1965Ile		69957471	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.M1965I	ENST00000356056.5	37	c.5895	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367239	0.61513	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.25085	1.82;1.82;1.82	5.21	5.21	0.72293	.	.	.	.	.	T	0.33411	0.0862	L	0.42581	1.335	0.47214	D	0.999351	P;P	0.52692	0.955;0.754	P;B	0.51974	0.686;0.104	T	0.01283	-1.1396	9	0.38643	T	0.18	.	14.6993	0.69145	0.0:0.8551:0.1449:0.0	.	2036;1965	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	I	1965;2036;1946	ENSP00000348349:M1965I;ENSP00000399162:M2036I;ENSP00000398250:M1946I	ENSP00000348349:M1965I	M	-	3	0	MYO9A	69957471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.567000	0.86603	0.591000	0.81541	ATG	-	superfamily_Cysteine-rich domain		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	C	NM_006901		69957471	-1	no_errors	NM_006901	genbank	human	validated	54_36p	missense	SNP	1.000	T
MAMDC2	256691	genome.wustl.edu	37	9	72659130	72659130	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:72659130T>C	ENST00000377182.4	+	1	634	c.17T>C	c.(16-18)gTc>gCc	p.V6A		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	6					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTAAGGGGCGTCCTCCTGGCG	0.672																																																0			9											59.0	52.0	54.0					9																	72659130		2203	4300	6503	71848950	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.17T>C	9.37:g.72659130T>C	ENSP00000366387:p.Val6Ala		71848950	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1	p.V6A	ENST00000377182.4	37	c.17	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908713	0.52439	.	.	ENSG00000165072	ENST00000377182	T	0.02916	4.11	5.16	2.83	0.33086	.	1.549430	0.03378	N	0.199936	T	0.02767	0.0083	N	0.14661	0.345	0.28411	N	0.918167	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.66056	D	0.02	-3.8894	6.5204	0.22272	0.0:0.1885:0.0:0.8115	.	6	Q7Z304	MAMC2_HUMAN	A	6	ENSP00000366387:V6A	ENSP00000366387:V6A	V	+	2	0	MAMDC2	71848950	0.820000	0.29190	0.794000	0.32065	0.970000	0.65996	1.964000	0.40462	0.435000	0.26365	0.533000	0.62120	GTC	-	NULL		0.672	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	protein_coding	OTTHUMT00000052600.1	T	NM_153267		71848950	+1	no_errors	NM_153267	genbank	human	validated	54_36p	missense	SNP	0.618	C
RAB11FIP5	26056	genome.wustl.edu	37	2	73315448	73315448	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:73315448G>A	ENST00000258098.6	-	3	1538	c.1298C>T	c.(1297-1299)cCa>cTa	p.P433L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	433					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AACCTGGACTGGCTTGCCCTC	0.657																																																0			2											62.0	58.0	59.0					2																	73315448		2203	4300	6503	73168956	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1298C>T	2.37:g.73315448G>A	ENSP00000258098:p.Pro433Leu		73168956	O94939|Q9P0M1	Missense_Mutation	SNP	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_RBD-FIP	p.P433L	ENST00000258098.6	37	c.1298	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359893	0.61403	.	.	ENSG00000135631	ENST00000258098	T	0.68479	-0.33	4.83	4.83	0.62350	.	0.065110	0.64402	D	0.000010	T	0.63977	0.2557	L	0.59436	1.845	0.80722	D	1	P;P	0.48503	0.911;0.835	B;B	0.39840	0.311;0.291	T	0.71297	-0.4635	10	0.62326	D	0.03	-7.9837	17.0265	0.86448	0.0:0.0:1.0:0.0	.	433;433	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	L	433	ENSP00000258098:P433L	ENSP00000258098:P433L	P	-	2	0	RAB11FIP5	73168956	1.000000	0.71417	0.963000	0.40424	0.723000	0.41478	3.779000	0.55379	2.692000	0.91855	0.561000	0.74099	CCA	-	NULL		0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	protein_coding	OTTHUMT00000251995.1	G	NM_015470		73168956	-1	no_errors	NM_015470	genbank	human	validated	54_36p	missense	SNP	0.904	A
RP11-24M17.5	0	genome.wustl.edu	37	15	76075563	76075563	+	RNA	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:76075563G>T	ENST00000395215.3	+	0	1184				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgtgggaccaggag	0.602																																																0			15																																								73862618			0																															15.37:g.76075563G>T			73862618		Missense_Mutation	SNP	NULL	p.W79L	ENST00000395215.3	37	c.236		15																																																																																			-	NULL		0.602	RP11-24M17.5-001	KNOWN	basic	processed_transcript	ENSG00000187812	pseudogene	OTTHUMT00000420501.1	G			73862618	+1	no_start_codon:no_stop_codon	ENST00000345070	ensembl	human	known	54_36p	missense	SNP	0.537	T
RNF169	254225	genome.wustl.edu	37	11	74556251	74556251	+	IGR	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:74556251C>A	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000340360.6_Missense_Mutation_p.K590N|XRRA1_ENST00000321448.8_Missense_Mutation_p.K315N|XRRA1_ENST00000527087.1_Missense_Mutation_p.K503N	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGGTGGTTTCTTTTGGTCTT	0.493																																																0			11											90.0	99.0	96.0					11																	74556251		1959	4151	6110	74233899	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74556251C>A			74233899	Q6N015	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1	p.K590N	ENST00000299563.4	37	c.1770	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964267	0.34659	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	5.2	-0.353	0.12594	.	0.674315	0.14960	N	0.288404	T	0.32436	0.0829	L	0.29908	0.895	0.09310	N	1	B;P;P;P;P;P;P	0.47253	0.167;0.892;0.589;0.655;0.589;0.589;0.589	B;P;B;B;B;B;B	0.48189	0.016;0.57;0.229;0.422;0.173;0.173;0.086	T	0.13255	-1.0516	10	0.23302	T	0.38	-2.1848	1.1216	0.01726	0.1513:0.3524:0.1494:0.347	.	590;192;146;503;534;200;576	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	N	590;315;576;534;503	ENSP00000339918:K590N;ENSP00000319303:K315N;ENSP00000435838:K503N	ENSP00000319303:K315N	K	-	3	2	XRRA1	74233899	0.003000	0.15002	0.012000	0.15200	0.383000	0.30230	-0.974000	0.03794	-0.141000	0.11374	-0.140000	0.14226	AAG	-	NULL		0.493	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	protein_coding	OTTHUMT00000384741.1	C	XM_495886		74233899	-1	no_errors	NM_182969	genbank	human	validated	54_36p	missense	SNP	0.000	A
DQX1	165545	genome.wustl.edu	37	2	74754614	74754614	+	5'Flank	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:74754614G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.V315V|DQX1_ENST00000393951.2_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTCTGGATGACACCCAATG	0.547																																																0			2											127.0	128.0	128.0					2																	74754614		1904	4114	6018	74608122	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754614G>A	Exception_encountered		74608122	Q6B017|Q8NAM8	Silent	SNP	HMMSmart_PlsC,HMMPfam_CUE,HMMSmart_CUE	p.V315	ENST00000404568.3	37	c.945	CCDS1949.2	2																																																																																			-	HMMPfam_CUE,HMMSmart_CUE		0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	protein_coding	OTTHUMT00000252230.3	G	NM_133637		74608122	-1	no_errors	NM_181575	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78332203	78332203	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:78332203T>A	ENST00000582970.1	+	37	11121	c.10978T>A	c.(10978-10980)Tgg>Agg	p.W3660R	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.W1733R|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.W3709R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3660					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACTCCGCCCTGGGCAAGAGA	0.493																																																0			17											106.0	89.0	95.0					17																	78332203		2203	4300	6503	75946798	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10978T>A	17.37:g.78332203T>A	ENSP00000464087:p.Trp3660Arg		75946798	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.W1733R	ENST00000582970.1	37	c.5197	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907680	0.72868	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.58	5.58	0.84498	.	0.286203	0.35495	N	0.003175	T	0.53594	0.1806	M	0.82323	2.585	0.30529	N	0.767591	D;D	0.89917	1.0;0.98	D;P	0.76575	0.988;0.694	T	0.61729	-0.7003	10	0.52906	T	0.07	.	13.9784	0.64287	0.0:0.0:0.0:1.0	.	3709;1733	C9JCP4;Q63HN8	.;RN213_HUMAN	R	3660;3709;1733	ENSP00000338218:W1733R	ENSP00000338218:W1733R	W	+	1	0	RNF213	75946798	0.999000	0.42202	1.000000	0.80357	0.875000	0.50365	3.318000	0.51975	2.111000	0.64477	0.519000	0.50382	TGG	-	NULL		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	T	NM_020914		75946798	+1	no_errors	NM_020914	genbank	human	validated	54_36p	missense	SNP	0.904	A
ADAMTS7P3	400406	genome.wustl.edu	37	15	78269699	78269699	+	IGR	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:78269699G>A								RP11-114H24.3 (13703 upstream) : RP11-114H24.5 (10634 downstream)																							CAGCTGGAGCGCCTGGTCCAT	0.672																																																0			15																																								76056754	SO:0001628	intergenic_variant	400406																															15.37:g.78269699G>A			76056754		RNA	SNP	-	NULL		37	NULL		15																																																																																			-	-	0	0.672					LOC400406			G			76056754	+1	pseudogene	XR_042358	genbank	human	model	54_36p	rna	SNP	0.997	A
E2F5	1875	genome.wustl.edu	37	8	86121470	86121470	+	Nonsense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:86121470A>T	ENST00000416274.2	+	6	743	c.709A>T	c.(709-711)Aag>Tag	p.K237*	E2F5_ENST00000418930.2_Nonsense_Mutation_p.K237*|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Nonsense_Mutation_p.K238*|E2F5_ENST00000517476.1_Nonsense_Mutation_p.K76*|E2F5_ENST00000521429.1_Nonsense_Mutation_p.K64*	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	237					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGTTCATCTAAGCCCGTGGT	0.458																																																0			8											139.0	138.0	138.0					8																	86121470		1965	4143	6108	86308722	SO:0001587	stop_gained	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.709A>T	8.37:g.86121470A>T	ENSP00000398124:p.Lys237*		86308722	E9PBN9|Q16601|Q92756	Nonsense_Mutation	SNP	superfamily_SSF46785,HMMPfam_E2F_TDP	p.K237*	ENST00000416274.2	37	c.709	CCDS47885.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	40|40	8.422558|8.422558	0.98803|0.98803	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234|ENST00000520225	.|.	.|.	.|.	6.13|6.13	3.64|3.64	0.41730|0.41730	.|.	0.271772|.	0.42964|.	D|.	0.000623|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-16.0015|-16.0015	13.3507|13.3507	0.60601|0.60601	0.7529:0.2471:0.0:0.0|0.7529:0.2471:0.0:0.0	.|.	.|.	.|.	.|.	X|L	237;238;237;76;64;73|8	.|.	ENSP00000256117:K238X|.	K|X	+|+	1|2	0|2	E2F5|E2F5	86308722|86308722	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	4.062000|4.062000	0.57492|0.57492	1.121000|1.121000	0.41925|0.41925	0.529000|0.529000	0.55759|0.55759	AAG|TAA	-	NULL		0.458	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	protein_coding	OTTHUMT00000380274.1	A	NM_001951		86308722	+1	no_errors	NM_001951	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	T
KIAA1324L	222223	genome.wustl.edu	37	7	86522377	86522377	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:86522377T>A	ENST00000450689.2	-	20	2910	c.2725A>T	c.(2725-2727)Aaa>Taa	p.K909*	KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.K742*|KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.K669*|KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.K838*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	909						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAAATTCCTTTAATGCACCAT	0.393																																																0			7											106.0	117.0	114.0					7																	86522377		2203	4300	6503	86360313	SO:0001587	stop_gained	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2725A>T	7.37:g.86522377T>A	ENSP00000413445:p.Lys909*		86360313	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Nonsense_Mutation	SNP	HMMPfam_NCD3G,superfamily_Grow_fac_recept,superfamily_Man6php_recept	p.K669*	ENST00000450689.2	37	c.2005	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.430220|9.430220	0.99169|0.99169	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.146095|.	0.64402|.	D|.	0.000005|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15952|.	T|.	0.53|.	.|.	15.7258|15.7258	0.77756|0.77756	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	909;669;838;742|869	.|.	ENSP00000297222:K669X|.	K|X	-|-	1|2	0|2	KIAA1324L|KIAA1324L	86360313|86360313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.137000|4.137000	0.58010|0.58010	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	AAA|TAA	-	NULL		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	protein_coding	OTTHUMT00000333372.3	T	NM_152748		86360313	-1	no_errors	NM_152748	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
SLITRK5	26050	genome.wustl.edu	37	13	88329588	88329588	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr13:88329588C>T	ENST00000325089.6	+	2	2164	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P408S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	649					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACCGGGGCCCCCGCGAGCTT	0.627																																																0			13											66.0	72.0	70.0					13																	88329588		2203	4300	6503	87127589	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1945C>T	13.37:g.88329588C>T	ENSP00000366283:p.Pro649Ser		87127589	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT	p.P649S	ENST00000325089.6	37	c.1945	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839078	0.32513	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59083	0.29;0.63	4.94	4.02	0.46733	.	0.285503	0.25037	N	0.033623	T	0.43809	0.1264	L	0.32530	0.975	0.32556	N	0.531781	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47142	-0.9140	9	.	.	.	-5.9868	12.2541	0.54615	0.1801:0.8199:0.0:0.0	.	408;649	B4DSH5;O94991	.;SLIK5_HUMAN	S	649;408	ENSP00000366283:P649S;ENSP00000442244:P408S	.	P	+	1	0	SLITRK5	87127589	0.000000	0.05858	0.998000	0.56505	0.379000	0.30106	0.151000	0.16283	2.554000	0.86153	0.555000	0.69702	CCC	-	NULL		0.627	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	protein_coding	OTTHUMT00000045416.3	C			87127589	+1	no_errors	NM_015567	genbank	human	validated	54_36p	missense	SNP	0.998	T
COX8C	341947	genome.wustl.edu	37	14	93814428	93814428	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:93814428T>C	ENST00000342144.2	+	2	259	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	61						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		ACCAGCTGCATATGTGCTAGG	0.438																																					GBM(134;630 1800 8342 13106 15419)											0			14											168.0	126.0	140.0					14																	93814428		2203	4300	6503	92884181	SO:0001583	missense	341947			AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"""Mitochondrial respiratory chain complex / Complex IV"""	24382	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIII isoform 3"""		"""cytochrome c oxidase subunit 8C"""			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.181T>C	14.37:g.93814428T>C	ENSP00000340568:p.Tyr61His		92884181	Q495K7	Missense_Mutation	SNP	HMMPfam_COX8,superfamily_Cyt_c_oxidase_8	p.Y61H	ENST00000342144.2	37	c.181	CCDS9910.1	14	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566803	0.28003	.	.	ENSG00000187581	ENST00000342144	.	.	.	3.66	3.66	0.41972	Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX (1);	.	.	.	.	T	0.63604	0.2525	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.51268	-0.8727	7	0.87932	D	0	.	8.9841	0.35983	0.0:0.0:0.0:1.0	.	61	Q7Z4L0	COX8C_HUMAN	H	61	.	ENSP00000340568:Y61H	Y	+	1	0	COX8C	92884181	0.041000	0.20044	0.011000	0.14972	0.001000	0.01503	2.685000	0.46959	1.897000	0.54924	0.454000	0.30748	TAT	-	HMMPfam_COX8,superfamily_Cyt_c_oxidase_8		0.438	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8C	protein_coding	OTTHUMT00000412769.1	T	NM_182971		92884181	+1	no_errors	NM_182971	genbank	human	validated	54_36p	missense	SNP	0.003	C
PPP4R4	57718	genome.wustl.edu	37	14	94712791	94712791	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:94712791A>T	ENST00000304338.3	+	14	1680	c.1526A>T	c.(1525-1527)aAa>aTa	p.K509I		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	509					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTACTTCAGAAATATGCCTGC	0.428																																																0			14											109.0	107.0	108.0					14																	94712791		2203	4300	6503	93782544	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1526A>T	14.37:g.94712791A>T	ENSP00000305924:p.Lys509Ile		93782544	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT	p.K509I	ENST00000304338.3	37	c.1526	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	A	18.22	3.574755	0.65878	.	.	ENSG00000119698	ENST00000304338	T	0.27402	1.67	5.78	3.36	0.38483	Armadillo-like helical (1);Armadillo-type fold (1);	0.347798	0.37219	N	0.002184	T	0.31513	0.0799	L	0.54323	1.7	0.80722	D	1	P	0.46784	0.884	P	0.44990	0.466	T	0.03795	-1.1003	10	0.59425	D	0.04	-17.3137	8.6301	0.33915	0.8024:0.1305:0.0671:0.0	.	509	Q6NUP7	PP4R4_HUMAN	I	509	ENSP00000305924:K509I	ENSP00000305924:K509I	K	+	2	0	PPP4R4	93782544	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	3.248000	0.51430	0.507000	0.28148	0.533000	0.62120	AAA	-	superfamily_ARM repeat		0.428	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	protein_coding	OTTHUMT00000413056.1	A	NM_058237		93782544	+1	no_errors	NM_058237	genbank	human	reviewed	54_36p	missense	SNP	0.992	T
BDKRB2	624	genome.wustl.edu	37	14	96707140	96707140	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:96707140C>T	ENST00000306005.3	+	3	671	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	BDKRB2_ENST00000554311.1_Silent_p.L159L|BDKRB2_ENST00000542454.2_Silent_p.L132L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.L132L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	159					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTACCTGGCCCTGGTGAAAAC	0.597																																																0			14											107.0	108.0	108.0					14																	96707140		2203	4300	6503	95776893	SO:0001819	synonymous_variant	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.475C>T	14.37:g.96707140C>T			95776893		Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L159	ENST00000306005.3	37	c.475	CCDS9942.1	14																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.597	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	protein_coding	OTTHUMT00000413294.1	C			95776893	+1	no_errors	NM_000623	genbank	human	reviewed	54_36p	silent	SNP	0.995	T
FILIP1L	11259	genome.wustl.edu	37	3	99569558	99569558	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:99569558C>T	ENST00000354552.3	-	5	1432	c.962G>A	c.(961-963)cGc>cAc	p.R321H	FILIP1L_ENST00000383694.2_Missense_Mutation_p.R81H|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R81H|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R321H|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	321						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGAAGCTGGCGATTTTGACT	0.463																																																0			3											188.0	182.0	184.0					3																	99569558		1879	4101	5980	101052248	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.962G>A	3.37:g.99569558C>T	ENSP00000346560:p.Arg321His		101052248	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	HMMPfam_CortBP2,superfamily_Prefoldin	p.R321H	ENST00000354552.3	37	c.962	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126010	0.77436	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.32515	1.95;1.45;1.95;1.45;1.47	5.81	4.94	0.65067	.	0.000000	0.52532	D	0.000063	T	0.52338	0.1728	M	0.80422	2.495	0.43152	D	0.99492	D;D	0.63046	0.992;0.986	P;P	0.56916	0.809;0.65	T	0.60816	-0.7188	10	0.66056	D	0.02	-3.3563	14.761	0.69607	0.0:0.9307:0.0:0.0693	.	321;321	Q4L180-2;Q4L180	.;FIL1L_HUMAN	H	321;81;321;81;81;81	ENSP00000346560:R321H;ENSP00000419642:R81H;ENSP00000327880:R321H;ENSP00000373192:R81H;ENSP00000419874:R81H	ENSP00000327880:R321H	R	-	2	0	FILIP1L	101052248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.331000	0.52075	1.458000	0.47871	0.655000	0.94253	CGC	-	HMMPfam_CortBP2,superfamily_Prefoldin		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	protein_coding	OTTHUMT00000353069.1	C	NM_014890		101052248	-1	no_errors	NM_182909	genbank	human	validated	54_36p	missense	SNP	1.000	T
NXF4	55999	genome.wustl.edu	37	X	101805114	101805114	+	RNA	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chrX:101805114G>A	ENST00000360035.2	+	0	221					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						TTGAAAGAAGGTGAGTGTCTG	0.552																																																0			X																																								101691770			55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101805114G>A			101691770		Splice_Site	SNP	-	e0+1	ENST00000360035.2	37	c.1+1		X																																																																																			-	-		0.552	NXF4-001	KNOWN	basic	processed_transcript	NXF4	pseudogene	OTTHUMT00000095720.1	G			101691770	+1	no_errors	ENST00000360035	ensembl	human	known	54_36p	splice_site	SNP	0.978	A
IL1R2	7850	genome.wustl.edu	37	2	102641093	102641093	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:102641093G>A	ENST00000332549.3	+	7	1079	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.A284T|IL1R2_ENST00000441002.1_Missense_Mutation_p.A284T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	284	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CATAGAGAGCGCCTACCCGGG	0.582																																					Pancreas(106;189 1628 2302 5133 12295)											0			2											60.0	56.0	57.0					2																	102641093		2203	4300	6503	102007525	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.850G>A	2.37:g.102641093G>A	ENSP00000330959:p.Ala284Thr		102007525	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig	p.A284T	ENST00000332549.3	37	c.850	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943641	0.34283	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.20738	2.05;2.05;2.05	5.86	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.227427	0.38720	N	0.001590	T	0.24928	0.0605	L	0.51422	1.61	0.20703	N	0.999867	D	0.63880	0.993	P	0.53185	0.72	T	0.06917	-1.0800	10	0.22706	T	0.39	.	7.2229	0.25999	0.1527:0.1388:0.7085:0.0	.	284	P27930	IL1R2_HUMAN	T	284	ENSP00000330959:A284T;ENSP00000377066:A284T;ENSP00000414611:A284T	ENSP00000330959:A284T	A	+	1	0	IL1R2	102007525	0.459000	0.25768	0.269000	0.24586	0.017000	0.09413	1.524000	0.35942	0.836000	0.34901	-0.142000	0.14014	GCC	-	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig		0.582	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	protein_coding	OTTHUMT00000253191.1	G	NM_004633		102007525	+1	no_errors	NM_004633	genbank	human	reviewed	54_36p	missense	SNP	0.572	A
LHFPL3	375612	genome.wustl.edu	37	7	103969407	103969407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:103969407G>A	ENST00000401970.2	+	1	260	c.138G>A	c.(136-138)tgG>tgA	p.W46*	LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.W60*|LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.W60*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.W46*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	60						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						AGCCCTACTGGATAGGCGACG	0.622																																																0			7											68.0	81.0	77.0					7																	103969407		2192	4297	6489	103756643	SO:0001587	stop_gained	375612			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.138G>A	7.37:g.103969407G>A	ENSP00000385374:p.Trp46*		103756643	A1L383|A4D0Q5	Nonsense_Mutation	SNP	HMMPfam_L_HGMIC_fpl	p.W60*	ENST00000401970.2	37	c.180		7	.	.	.	.	.	.	.	.	.	.	G	39	7.812877	0.98504	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.229	17.6888	0.88263	0.0:0.0:1.0:0.0	.	.	.	.	X	46;60;46;60	.	ENSP00000385374:W46X	W	+	3	0	LHFPL3	103756643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.469000	0.97679	2.156000	0.67533	0.514000	0.50259	TGG	-	HMMPfam_L_HGMIC_fpl		0.622	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	protein_coding	OTTHUMT00000348284.1	G	NM_199000		103756643	+1	no_errors	NM_199000	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
BRF1	2972	genome.wustl.edu	37	14	105722775	105722775	+	Intron	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:105722775T>C	ENST00000546474.1	-	4	15431				BRF1_ENST00000548421.1_Missense_Mutation_p.Y184C|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit						gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCACCTGGGGTACACCCCGGT	0.617																																																0			14											74.0	80.0	78.0					14																	105722775		692	1591	2283	104793820	SO:0001627	intron_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.471+79A>G	14.37:g.105722775T>C			104793820	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB	p.Y184C	ENST00000546474.1	37	c.551	CCDS10001.1	14	.	.	.	.	.	.	.	.	.	.	T	5.066	0.197879	0.09652	.	.	ENSG00000185024	ENST00000548421;ENST00000345053	.	.	.	1.28	0.0708	0.14379	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20438	-1.0275	8	0.33940	T	0.23	.	3.0759	0.06246	0.0:0.2762:0.0:0.7238	.	184	Q96KX3	.	C	184	.	ENSP00000339442:Y184C	Y	-	2	0	BRF1	104793820	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	0.825000	0.27393	0.012000	0.14892	0.482000	0.46254	TAC	-	NULL		0.617	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	protein_coding	OTTHUMT00000074548.4	T	NM_001519		104793820	-1	no_errors	ENST00000345053	ensembl	human	known	54_36p	missense	SNP	0.001	C
DPYS	1807	genome.wustl.edu	37	8	105394143	105394143	+	Intron	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:105394143G>A	ENST00000351513.2	-	9	1576				DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase						beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTATTGTGGGTCTCATTTTG	0.398																																																0			8																																								105463319	SO:0001627	intron_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1444-601C>T	8.37:g.105394143G>A			105463319		Missense_Mutation	SNP	NULL	p.P36S	ENST00000351513.2	37	c.106	CCDS6302.1	8																																																																																			-	NULL		0.398	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000220279	protein_coding	OTTHUMT00000380814.1	G	NM_001385		105463319	-1	no_errors	ENST00000404280	ensembl	human	known	54_36p	missense	SNP	0.001	A
ZC3H12C	85463	genome.wustl.edu	37	11	110035370	110035370	+	Silent	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:110035370C>G	ENST00000278590.3	+	6	1611	c.1560C>G	c.(1558-1560)tcC>tcG	p.S520S	ZC3H12C_ENST00000453089.2_Silent_p.S489S|ZC3H12C_ENST00000528673.1_Silent_p.S521S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	520							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTGTACCTTCCTTAGTTAGCA	0.438																																																0			11											110.0	106.0	108.0					11																	110035370		1900	4113	6013	109540580	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1560C>G	11.37:g.110035370C>G			109540580	B4DI65|B4DR47	Silent	SNP	NULL	p.S520	ENST00000278590.3	37	c.1560	CCDS44727.1	11																																																																																			-	NULL		0.438	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	protein_coding	OTTHUMT00000390491.1	C	NM_033390		109540580	+1	no_errors	NM_033390	genbank	human	validated	54_36p	silent	SNP	0.990	G
CHIAP2	149620	genome.wustl.edu	37	1	111824946	111824946	+	RNA	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:111824946T>A	ENST00000369743.4	+	0	830					NR_003928.1				chitinase, acidic pseudogene 2																		CATGACACTTTCCTGGCTTCT	0.373																																																0			1																																								111626469			149620					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824946T>A			111626469		RNA	SNP	-	NULL	ENST00000369743.4	37	NULL		1																																																																																			-	-		0.373	CHIAP2-001	KNOWN	basic	processed_transcript	LOC149620	pseudogene	OTTHUMT00000033667.3	T			111626469	+1	pseudogene	NR_003928	genbank	human	provisional	54_36p	rna	SNP	0.000	A
CSMD3	114788	genome.wustl.edu	37	8	113259299	113259299	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:113259299C>T	ENST00000297405.5	-	64	10416	c.10172G>A	c.(10171-10173)cGc>cAc	p.R3391H	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3321H|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3351H|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3222H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3391	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3391L(1)|p.R3351L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGGCAGGTGCGTGTTGTAGA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	lung(2)	8											132.0	115.0	121.0					8																	113259299		2203	4300	6503	113328475	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10172G>A	8.37:g.113259299C>T	ENSP00000297405:p.Arg3391His		113328475	Q96PZ3	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10	p.R3391H	ENST00000297405.5	37	c.10172	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239619	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.79	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.074567	0.48767	D	0.000168	D	0.83501	0.5268	M	0.93283	3.4	0.47621	D	0.999473	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.901;0.996;0.999	T	0.83334	-0.0011	10	0.21014	T	0.42	.	18.3643	0.90385	0.0:1.0:0.0:0.0	.	3222;3391;3351	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3351;3391;2661;3222;3321	ENSP00000345799:R3351H;ENSP00000297405:R3391H;ENSP00000341558:R2661H;ENSP00000412263:R3222H;ENSP00000343124:R3321H	ENSP00000297405:R3391H	R	-	2	0	CSMD3	113328475	0.983000	0.35010	0.259000	0.24435	0.524000	0.34500	7.562000	0.82300	2.649000	0.89929	0.460000	0.39030	CGC	-	superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113328475	-1	no_errors	NM_198123	genbank	human	validated	54_36p	missense	SNP	0.544	T
USP2	9099	genome.wustl.edu	37	11	119243866	119243866	+	Missense_Mutation	SNP	C	C	T	rs141117796	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:119243866C>T	ENST00000260187.2	-	2	619	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	109	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCGCTGCCCCCGCTGAGGCCA	0.642													C|||	5	0.000998403	0.0	0.0	5008	,	,		16663	0.005		0.0	False		,,,				2504	0.0															0			11						C	ARG/GLY	0,4398		0,0,2199	82.0	91.0	88.0		325	5.2	1.0	11	dbSNP_134	88	1,8589	1.2+/-3.3	0,1,4294	yes	missense	USP2	NM_004205.4	125	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/606	119243866	1,12987	2199	4295	6494	118749076	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.325G>A	11.37:g.119243866C>T	ENSP00000260187:p.Gly109Arg		118749076	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.G109R	ENST00000260187.2	37	c.325	CCDS8422.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.68	3.873267	0.72180	0.0	1.16E-4	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.26518	1.73	5.22	5.22	0.72569	.	0.356981	0.18810	U	0.130542	T	0.41926	0.1180	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30149	-0.9988	10	0.87932	D	0	-5.342	15.9359	0.79707	0.0:1.0:0.0:0.0	.	109	O75604	UBP2_HUMAN	R	109;79;109;109	ENSP00000260187:G109R	ENSP00000260187:G109R	G	-	1	0	USP2	118749076	0.998000	0.40836	0.999000	0.59377	0.934000	0.57294	5.512000	0.67030	2.426000	0.82243	0.561000	0.74099	GGG	-	NULL		0.642	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	protein_coding	OTTHUMT00000388361.2	C	NM_171997		118749076	-1	no_errors	NM_004205	genbank	human	validated	54_36p	missense	SNP	0.998	T
DMBT1	1755	genome.wustl.edu	37	10	124395634	124395634	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:124395634A>C	ENST00000338354.3	+	50	6395	c.6289A>C	c.(6289-6291)Att>Ctt	p.I2097L	DMBT1_ENST00000368956.2_Missense_Mutation_p.I1469L|DMBT1_ENST00000368909.3_Missense_Mutation_p.I2097L|DMBT1_ENST00000330163.4_Missense_Mutation_p.I1469L|DMBT1_ENST00000368955.3_Missense_Mutation_p.I2087L|DMBT1_ENST00000344338.3_Missense_Mutation_p.I2087L|DMBT1_ENST00000359586.6_Missense_Mutation_p.I817L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2097	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTCATGTCCATTCGCTTCAT	0.522																																					Ovarian(182;93 2026 18125 22222 38972)											0			10											93.0	91.0	92.0					10																	124395634		2007	4170	6177	124385624	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6289A>C	10.37:g.124395634A>C	ENSP00000342210:p.Ile2097Leu		124385624	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1	p.I2097L	ENST00000338354.3	37	c.6289		10	.	.	.	.	.	.	.	.	.	.	A	9.120	1.008833	0.19199	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.52	-8.49	0.00931	CUB (5);	2.194420	0.02502	N	0.090609	T	0.12305	0.0299	N	0.10629	0.01	0.09310	N	1	P;B;B;B;B;B;B	0.37207	0.587;0.356;0.225;0.042;0.225;0.225;0.267	B;B;B;B;B;B;B	0.34385	0.146;0.104;0.07;0.023;0.114;0.114;0.181	T	0.22452	-1.0216	10	0.45353	T	0.12	.	11.7777	0.51995	0.3104:0.0:0.5863:0.1033	.	817;2077;1346;2226;1469;2087;2097	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	2097;2226;2097;2097;2097;2096;1469;2087;1469;1469;2097;2087;1469;243;817	ENSP00000342210:I2097L;ENSP00000343175:I2087L;ENSP00000327747:I1469L;ENSP00000357905:I2097L;ENSP00000357951:I2087L;ENSP00000357952:I1469L;ENSP00000352593:I817L	ENSP00000331522:I1469L	I	+	1	0	DMBT1	124385624	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.046000	0.11983	-1.609000	0.01585	-1.173000	0.01734	ATT	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	A	NM_004406		124385624	+1	no_errors	NM_007329	genbank	human	reviewed	54_36p	missense	SNP	0.088	C
ATAD2	29028	genome.wustl.edu	37	8	124357153	124357153	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:124357153C>G	ENST00000287394.5	-	19	2796	c.2689G>C	c.(2689-2691)Gac>Cac	p.D897H	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.D215H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	897					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGGGTTTGTCAGAAGTTGCA	0.378																																																0			8											100.0	98.0	98.0					8																	124357153		2203	4300	6503	124426334	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2689G>C	8.37:g.124357153C>G	ENSP00000287394:p.Asp897His		124426334	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain	p.D897H	ENST00000287394.5	37	c.2689	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321928	0.81580	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.81415	-1.49;-1.49	5.49	5.49	0.81192	.	0.338236	0.35407	N	0.003221	T	0.78457	0.4286	L	0.52364	1.645	0.38683	D	0.952598	B	0.31174	0.311	B	0.29524	0.103	T	0.79766	-0.1665	10	0.72032	D	0.01	-11.6957	19.3552	0.94410	0.0:1.0:0.0:0.0	.	897	Q6PL18	ATAD2_HUMAN	H	897;215	ENSP00000287394:D897H;ENSP00000429213:D215H	ENSP00000287394:D897H	D	-	1	0	ATAD2	124426334	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	5.759000	0.68785	2.576000	0.86940	0.591000	0.81541	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124426334	-1	no_errors	NM_014109	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
BCORL1	63035	genome.wustl.edu	37	X	129149450	129149450	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chrX:129149450C>T	ENST00000218147.7	+	4	2899	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	BCORL1_ENST00000540052.1_Missense_Mutation_p.P901L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P901L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P901L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	901					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAGCAGGACCCTGTTACAAAG	0.567																																																0			X											61.0	55.0	57.0					X																	129149450		2203	4300	6503	128977131	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2702C>T	X.37:g.129149450C>T	ENSP00000218147:p.Pro901Leu		128977131	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.P901L	ENST00000218147.7	37	c.2702	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896896	0.17686	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.38722	1.12;1.49;1.12;1.12;1.54	5.31	4.44	0.53790	.	0.663600	0.12465	N	0.466575	T	0.22859	0.0552	N	0.14661	0.345	0.09310	N	1	P;B	0.37548	0.599;0.042	B;B	0.32864	0.154;0.01	T	0.04347	-1.0958	10	0.33141	T	0.24	-0.4703	7.7872	0.29099	0.1621:0.7542:0.0:0.0837	.	901;901	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	901;901;901;901;501	ENSP00000218147:P901L;ENSP00000307541:P901L;ENSP00000352253:P901L;ENSP00000437775:P901L;ENSP00000399483:P501L	ENSP00000218147:P901L	P	+	2	0	BCORL1	128977131	0.022000	0.18835	0.962000	0.40283	0.968000	0.65278	2.652000	0.46682	2.215000	0.71742	0.529000	0.55759	CCT	-	NULL		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	C	NM_021946		128977131	+1	no_errors	NM_021946	genbank	human	validated	54_36p	missense	SNP	0.001	T
LCN12	286256	genome.wustl.edu	37	9	139847372	139847372	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:139847372T>G	ENST00000371633.3	+	2	143	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	48					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCCTGGGCCTGGCGGGCAAC	0.657																																																0			9											103.0	114.0	110.0					9																	139847372		2063	4195	6258	138967193	SO:0001583	missense	286256			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.143T>G	9.37:g.139847372T>G	ENSP00000360696:p.Leu48Arg		138967193	A2AMJ7	Missense_Mutation	SNP	superfamily_Lipocalins,HMMPfam_Lipocalin	p.L48R	ENST00000371633.3	37	c.143	CCDS7018.2	9	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471966	0.43942	.	.	ENSG00000184925	ENST00000371633	T	0.09163	3.01	4.14	4.14	0.48551	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.26983	N	0.021516	T	0.31796	0.0808	M	0.79475	2.455	0.35680	D	0.813992	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.44742	-0.9308	10	0.66056	D	0.02	-13.0014	11.3164	0.49394	0.0:0.0:0.0:1.0	.	48;48	Q8IW14;Q6JVE5	.;LCN12_HUMAN	R	48	ENSP00000360696:L48R	ENSP00000360696:L48R	L	+	2	0	LCN12	138967193	0.998000	0.40836	0.966000	0.40874	0.079000	0.17450	0.528000	0.23002	1.872000	0.54250	0.459000	0.35465	CTG	-	superfamily_Lipocalins,HMMPfam_Lipocalin		0.657	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	protein_coding	OTTHUMT00000257990.1	T	NM_178536		138967193	+1	no_errors	NM_178536	genbank	human	validated	54_36p	missense	SNP	0.469	G
PIK3CB	5291	genome.wustl.edu	37	3	138478176	138478176	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:138478176T>A	ENST00000477593.1	-	2	83	c.10A>T	c.(10-12)Agt>Tgt	p.S4C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S4C			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	4					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTATGAAACTGAAGCACATT	0.423																																																0			3											82.0	79.0	80.0					3																	138478176		2203	4300	6503	139960866	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.10A>T	3.37:g.138478176T>A	ENSP00000418143:p.Ser4Cys		139960866	D3DNF0|Q24JU2	Missense_Mutation	SNP	HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.S4C	ENST00000477593.1	37	c.10	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148979	0.37923	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.73258	-0.45;-0.45;-0.73;-0.73	5.84	0.546	0.17196	.	0.811304	0.11165	N	0.592607	T	0.44393	0.1291	N	0.08118	0	0.18873	N	0.999984	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.41790	T	0.15	0.1673	2.9379	0.05820	0.2173:0.0698:0.3812:0.3317	.	4	P42338	PK3CB_HUMAN	C	4	ENSP00000418143:S4C;ENSP00000289153:S4C;ENSP00000419857:S4C;ENSP00000420399:S4C	ENSP00000289153:S4C	S	-	1	0	PIK3CB	139960866	0.002000	0.14202	0.079000	0.20413	0.996000	0.88848	-0.054000	0.11826	-0.128000	0.11641	0.533000	0.62120	AGT	-	NULL		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	T			139960866	-1	no_errors	NM_006219	genbank	human	provisional	54_36p	missense	SNP	0.012	A
U2SURP	23350	genome.wustl.edu	37	3	142729687	142729687	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:142729687T>C	ENST00000473835.2	+	2	166	c.76T>C	c.(76-78)Tct>Cct	p.S26P	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S26P	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	26					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTCATCTGGATCTTCAGATGC	0.303																																																0			3											148.0	138.0	141.0					3																	142729687		1817	4085	5902	144212377	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.76T>C	3.37:g.142729687T>C	ENSP00000418563:p.Ser26Pro		144212377	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,superfamily_ENTH/VHS domain,HMMSmart_SM00582	p.S26P	ENST00000473835.2	37	c.76	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964706	0.53507	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598	T;T	0.12147	2.71;2.71	5.85	5.85	0.93711	.	0.198645	0.44097	D	0.000486	T	0.19485	0.0468	N	0.14661	0.345	0.80722	D	1	B;P;P	0.42518	0.026;0.782;0.676	B;P;P	0.58391	0.029;0.838;0.693	T	0.06250	-1.0837	10	0.87932	D	0	-14.0158	12.6273	0.56636	0.0:0.0:0.0:1.0	.	26;26;26	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	P	26	ENSP00000418563:S26P;ENSP00000422011:S26P	ENSP00000322376:S26P	S	+	1	0	U2SURP	144212377	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.049000	0.57397	2.238000	0.73509	0.533000	0.62120	TCT	-	NULL		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SR140	protein_coding	OTTHUMT00000354603.2	T	NM_001080415		144212377	+1	no_errors	NM_001080415	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CSF1R	1436	genome.wustl.edu	37	5	149435640	149435640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr5:149435640G>A	ENST00000286301.3	-	19	2794	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACGTCGCTCTGAACCGTGTAG	0.602																																																0			5											97.0	95.0	96.0					5																	149435640		2203	4300	6503	149415833	SO:0001587	stop_gained	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2503C>T	5.37:g.149435640G>A	ENSP00000286301:p.Gln835*		149415833	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.Q835*	ENST00000286301.3	37	c.2503	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	g	41	9.062277	0.99053	.	.	ENSG00000182578	ENST00000286301	.	.	.	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.776	0.91911	0.0:0.0:1.0:0.0	.	.	.	.	X	835	.	ENSP00000286301:Q835X	Q	-	1	0	CSF1R	149415833	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.852000	0.99516	2.431000	0.82371	0.401000	0.26515	CAG	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	protein_coding	OTTHUMT00000252329.2	G	NM_005211		149415833	-1	no_errors	NM_005211	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
AQP10	89872	genome.wustl.edu	37	1	154296875	154296875	+	Silent	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:154296875T>A	ENST00000324978.3	+	6	865	c.825T>A	c.(823-825)gcT>gcA	p.A275A	AQP10_ENST00000484864.1_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	275					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGAGCCAGCTCAGGATCTGG	0.592											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											73.0	73.0	73.0					1																	154296875		2203	4300	6503	152563499	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.825T>A	1.37:g.154296875T>A		1762	152563499	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	HMMPfam_MIP,superfamily_Aquaporin-like,PatternScan_MIP	p.A275	ENST00000324978.3	37	c.825	CCDS1065.1	1																																																																																			-	NULL		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	protein_coding	OTTHUMT00000087661.1	T	NM_080429		152563499	+1	no_errors	NM_080429	genbank	human	reviewed	54_36p	silent	SNP	0.260	A
AADAC	13	genome.wustl.edu	37	3	151545684	151545684	+	Silent	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:151545684T>G	ENST00000232892.7	+	5	1050	c.924T>G	c.(922-924)gcT>gcG	p.A308A	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	308					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAGCTGGCTAAAAAATATC	0.423																																					Ovarian(30;839 841 2699 32801 46334)											0			3											44.0	45.0	45.0					3																	151545684		2203	4300	6503	153028374	SO:0001819	synonymous_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.924T>G	3.37:g.151545684T>G			153028374	A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER	p.A308	ENST00000232892.7	37	c.924	CCDS33877.1	3																																																																																			-	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3		0.423	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	protein_coding	OTTHUMT00000357883.2	T	NM_001086		153028374	+1	no_errors	NM_001086	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
GHSR	2693	genome.wustl.edu	37	3	172165395	172165395	+	Intron	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:172165395C>T	ENST00000241256.2	-	1	839				GHSR_ENST00000427970.1_Missense_Mutation_p.R270H	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor						actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTGAGCGCGCGCTGAGACCC	0.602																																					Esophageal Squamous(93;641 1401 20883 29581 34638)											0			3											86.0	93.0	91.0					3																	172165395		2203	4300	6503	173648089	SO:0001627	intron_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.796+12G>A	3.37:g.172165395C>T			173648089	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R270H	ENST00000241256.2	37	c.809	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100878	0.20552	.	.	ENSG00000121853	ENST00000427970	T	0.62941	-0.01	5.43	0.929	0.19449	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.15723	-1.0427	8	0.15499	T	0.54	.	2.2881	0.04132	0.2408:0.4719:0.1082:0.1791	.	270	Q92847-2	.	H	270	ENSP00000395344:R270H	ENSP00000395344:R270H	R	-	2	0	GHSR	173648089	0.384000	0.25164	0.002000	0.10522	0.046000	0.14306	1.001000	0.29783	0.653000	0.30826	0.455000	0.32223	CGC	-	HMMPfam_7tm_1		0.602	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	protein_coding	OTTHUMT00000346728.1	C	NM_004122		173648089	-1	no_errors	NM_004122	genbank	human	reviewed	54_36p	missense	SNP	0.043	T
NSD1	64324	genome.wustl.edu	37	5	176692807	176692807	+	Intron	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr5:176692807G>A	ENST00000439151.2	+	15	5191				NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCCTCTTGTGGCAGTGCGTA	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5																																								176625413	SO:0001627	intron_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5147-1756G>A	5.37:g.176692807G>A			176625413	Q96PD8|Q96RN7	RNA	SNP	-	NULL	ENST00000439151.2	37	NULL	CCDS4412.1	5																																																																																			-	-		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128760	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176625413	-1	pseudogene	XR_038526	genbank	human	model	54_36p	rna	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179436063	179436063	+	Silent	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:179436063T>C	ENST00000591111.1	-	276	70097	c.69873A>G	c.(69871-69873)ccA>ccG	p.P23291P	TTN_ENST00000342175.6_Silent_p.P16059P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P15867P|TTN_ENST00000359218.5_Silent_p.P15992P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.P24932P|TTN_ENST00000342992.6_Silent_p.P22364P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23291	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCACTGATTGGCTCATTCC	0.448																																																0			2											133.0	125.0	128.0					2																	179436063		1948	4155	6103	179144309	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69873A>G	2.37:g.179436063T>C			179144309	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Ypt/Rab-GAP domain of gyp1p,superfamily_beta-sandwich domain of Sec23/24,superfamily_vWA-like,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_RCC1_2	p.Q22364R	ENST00000591111.1	37	c.67091		2																																																																																			-	NULL		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179144309	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_133378	genbank	human	reviewed	54_36p	missense	SNP	0.989	C
CHRD	8646	genome.wustl.edu	37	3	184106727	184106727	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:184106727C>A	ENST00000204604.1	+	22	3002	c.2756C>A	c.(2755-2757)tCc>tAc	p.S919Y	CHRD_ENST00000348986.3_Missense_Mutation_p.S879Y|CHRD_ENST00000545352.1_Missense_Mutation_p.S461Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.S919Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	919	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCACTGTCCTGTGGCTCG	0.632																																																0			3											108.0	93.0	98.0					3																	184106727		2203	4300	6503	185589421	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2756C>A	3.37:g.184106727C>A	ENSP00000204604:p.Ser919Tyr		185589421	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,HMMPfam_CHRD,HMMSmart_SM00754,PatternScan_VWFC_1	p.S919Y	ENST00000204604.1	37	c.2756	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931200	0.52866	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.93	4.93	0.64822	von Willebrand factor, type C (1);	0.543583	0.17867	N	0.159312	T	0.75635	0.3876	M	0.79475	2.455	0.22610	N	0.998931	P;D;P;D	0.59767	0.925;0.983;0.895;0.986	B;P;P;P	0.58391	0.363;0.807;0.547;0.838	T	0.69483	-0.5133	10	0.72032	D	0.01	-12.6245	13.6767	0.62458	0.0:1.0:0.0:0.0	.	461;879;919;919	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Y	919;919;879;461	ENSP00000204604:S919Y;ENSP00000408972:S919Y;ENSP00000334036:S879Y;ENSP00000442948:S461Y	ENSP00000204604:S919Y	S	+	2	0	CHRD	185589421	1.000000	0.71417	0.987000	0.45799	0.236000	0.25371	2.800000	0.47900	2.273000	0.75805	0.655000	0.94253	TCC	-	HMMPfam_VWC,HMMSmart_SM00214		0.632	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	protein_coding	OTTHUMT00000280432.1	C	NM_003741		185589421	+1	no_errors	NM_003741	genbank	human	reviewed	54_36p	missense	SNP	0.904	A
MAP3K13	9175	genome.wustl.edu	37	3	185165692	185165692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:185165692G>T	ENST00000265026.3	+	5	1301	c.967G>T	c.(967-969)Gag>Tag	p.E323*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E179*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E116*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E323*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E179*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GATGGCGCCAGAGGTGATACG	0.453																																																0			3											71.0	67.0	68.0					3																	185165692		2203	4300	6503	186648386	SO:0001587	stop_gained	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.967G>T	3.37:g.185165692G>T	ENSP00000265026:p.Glu323*		186648386		Nonsense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST	p.E323*	ENST00000265026.3	37	c.967	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.850661	0.97885	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6412	0.95758	0.0:0.0:1.0:0.0	.	.	.	.	X	116;323;179;179;323;68	.	ENSP00000265026:E323X	E	+	1	0	MAP3K13	186648386	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.824000	0.99380	2.710000	0.92621	0.555000	0.69702	GAG	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	protein_coding	OTTHUMT00000345268.1	G	NM_004721		186648386	+1	no_errors	NM_004721	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
PHBP11	644214	genome.wustl.edu	37	1	224044415	224044415	+	IGR	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:224044415T>C								TP53BP2 (10741 upstream) : RP11-504P24.8 (94680 downstream)																							ACCAGTGAGTTGACAATCAGC	0.557																																																0			1																																								222111038	SO:0001628	intergenic_variant	644214																															1.37:g.224044415T>C			222111038		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.557					LOC644214			T			222111038	-1	pseudogene	XR_017064	genbank	human	model	54_36p	rna	SNP	1.000	C
NLRP3	114548	genome.wustl.edu	37	1	247587626	247587626	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:247587626C>T	ENST00000336119.3	+	3	1627	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NLRP3_ENST00000391828.3_Missense_Mutation_p.P294L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.P294L|NLRP3_ENST00000366497.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P294L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P294L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	294	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAAAACCCTCCAGAATC	0.587																																																0			1											73.0	74.0	74.0					1																	247587626		2203	4300	6503	245654249	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.881C>T	1.37:g.247587626C>T	ENSP00000337383:p.Pro294Leu		245654249	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1	p.P294L	ENST00000336119.3	37	c.881	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237586	0.22711	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.130542	0.35936	N	0.002881	D	0.89287	0.6672	M	0.85041	2.73	0.09310	N	0.999993	P;D;D;P;D	0.89917	0.949;1.0;0.998;0.929;0.998	P;D;D;P;D	0.76575	0.78;0.988;0.969;0.879;0.982	T	0.81293	-0.0998	10	0.87932	D	0	.	11.9927	0.53184	0.0:1.0:0.0:0.0	.	294;294;294;294;294	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	294	ENSP00000375704:P294L;ENSP00000355453:P294L;ENSP00000337383:P294L;ENSP00000294752:P294L;ENSP00000355452:P294L;ENSP00000375703:P294L	ENSP00000337383:P294L	P	+	2	0	NLRP3	245654249	0.000000	0.05858	0.206000	0.23566	0.038000	0.13279	0.646000	0.24797	2.543000	0.85770	0.563000	0.77884	CCC	-	HMMPfam_NACHT		0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	protein_coding	OTTHUMT00000097740.1	C	NM_004895		245654249	+1	no_errors	NM_001079821	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
MVB12A	93343	genome.wustl.edu	37	19	17528023	17528032	+	5'Flank	DEL	TTTTTTTTTT	TTTTTTTTTT	-	rs58806573		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	TTTTTTTTTT	TTTTTTTTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:17528023_17528032delTTTTTTTTTT	ENST00000317040.7	+	0	0				MVB12A_ENST00000543795.1_5'Flank|MVB12A_ENST00000529490.1_Intron|MVB12A_ENST00000392702.2_5'Flank|CTD-2521M24.9_ENST00000500836.2_lincRNA|MVB12A_ENST00000528515.1_5'Flank|CTD-2521M24.8_ENST00000597028.1_RNA|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000529939.1_5'Flank			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A						protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										CACCCAGAGCtttttttttttttttttttt	0.414																																																0			19																																								17389032	SO:0001631	upstream_gene_variant	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252		19.37:g.17528033_17528042delTTTTTTTTTT	Exception_encountered		17389023	Q96I18	RNA	DEL	-	NULL	ENST00000317040.7	37	NULL	CCDS12359.1	19																																																																																			(deletion:rna[17388737,17389128])	-		0.414	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129261	protein_coding	OTTHUMT00000388723.2	TTTTTTTTTT	NM_138401		17389032	-1	pseudogene	XR_039780	genbank	human	model	54_36p	rna	DEL	0.966:0.965:0.965:0.965:0.965:0.965:0.966:0.966:0.967:0.969	-
BPIFB3	359710	genome.wustl.edu	37	20	31661398	31661409	+	Stop_Codon_Del	DEL	CCGTGGCATCCT	CCGTGGCATCCT	-	rs149644176|rs114341725	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	CCGTGGCATCCT	CCGTGGCATCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:31661398_31661409delCCGTGGCATCCT	ENST00000375494.3	+	0	1418_1429					NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3						innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.T473T(1)									GTTGTGCTGACCGTGGCATCCTGAGGCTGAGA	0.552																																																1	Substitution - coding silent(1)	lung(1)	20																																								31125070	SO:0001567	stop_retained_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	Exception_encountered	20.37:g.31661398_31661409delCCGTGGCATCCT	ENSP00000364643:p.*477Trpext*?		31125059	Q5TDX7	In_Frame_Del	DEL	PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C	p.TVAS*473in_frame_delR	ENST00000375494.3	37	c.1418_1429	CCDS13212.1	20																																																																																			(deletion:cds_exon[31125043,31125072])	superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2		0.552	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf185	protein_coding	OTTHUMT00000078654.2	CCGTGGCATCCT	NM_182658		31125070	+1	no_errors	NM_182658	genbank	human	provisional	54_36p	in_frame_del	DEL	1.000:0.999:1.000:0.999:0.997:0.983:0.977:0.968:0.966:0.963:0.944:0.946	-
FPGT	8790	genome.wustl.edu	37	1	74671261	74671266	+	In_Frame_Del	DEL	GGAACT	GGAACT	-	rs541020095		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	GGAACT	GGAACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:74671261_74671266delGGAACT	ENST00000609362.1	+	4	1567_1572	c.1530_1535delGGAACT	c.(1528-1536)gaggaactg>gag	p.EL511del	FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_In_Frame_Del_p.EL257del|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_In_Frame_Del_p.EL524del	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	511					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AAGTTACAGAGGAACTGTTCTCTGGT	0.364																																																0			1																																								74443854	SO:0001651	inframe_deletion	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1530_1535delGGAACT	1.37:g.74671261_74671266delGGAACT	ENSP00000476680:p.Glu511_Leu512del		74443849	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	In_Frame_Del	DEL	HMMPfam_Fucokinase	p.EL511in_frame_del	ENST00000609362.1	37	c.1530_1535	CCDS663.1	1																																																																																			(deletion:cds_exon[74442663,74444104])	HMMPfam_Fucokinase		0.364	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	protein_coding		GGAACT			74443854	+1	no_errors	NM_003838	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.019:0.056:0.529:0.544:0.972:0.992	-
FPGT	8790	genome.wustl.edu	37	1	74671270	74671285	+	Frame_Shift_Del	DEL	CTCTGGTAACAAGACA	CTCTGGTAACAAGACA	-	rs200809071|rs140349152|rs375035895	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	CTCTGGTAACAAGACA	CTCTGGTAACAAGACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:74671270_74671285delCTCTGGTAACAAGACA	ENST00000609362.1	+	4	1576_1591	c.1539_1554delCTCTGGTAACAAGACA	c.(1537-1554)ttctctggtaacaagacafs	p.FSGNKT513fs	FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Frame_Shift_Del_p.FSGNKT259fs|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Frame_Shift_Del_p.FSGNKT526fs	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	513					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.N516D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGGAACTGTTCTCTGGTAACAAGACATGTCTGAGTT	0.366																																																1	Substitution - Missense(1)	kidney(1)	1																																								74443873	SO:0001589	frameshift_variant	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1539_1554delCTCTGGTAACAAGACA	1.37:g.74671270_74671285delCTCTGGTAACAAGACA	ENSP00000476680:p.Phe513fs		74443858	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Frame_Shift_Del	DEL	HMMPfam_Fucokinase	p.S514fs	ENST00000609362.1	37	c.1539_1554	CCDS663.1	1																																																																																			(deletion:cds_exon[74442663,74444104])	HMMPfam_Fucokinase		0.366	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	protein_coding		CTCTGGTAACAAGACA			74443873	+1	no_errors	NM_003838	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.997:0.998:0.995:0.705:0.736:0.455:0.217:0.186:0.081:0.010:0.001:0.000:0.000	-
FRAS1	80144	genome.wustl.edu	37	4	79418103	79418104	+	In_Frame_Ins	INS	-	-	ATG			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr4:79418103_79418104insATG	ENST00000264895.6	+	60	9543_9544	c.9103_9104insATG	c.(9103-9105)aat>aATGat	p.3036_3037insD		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3032	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCATATCCAATGATGAAGAT	0.391																																																0			4																																								79637128	SO:0001652	inframe_insertion	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9107_9109dupATG	4.37:g.79418107_79418109dupATG	ENSP00000264895:p.Asp3037_Asp3038dup		79637127	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	In_Frame_Ins	INS	HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta	p.3038in_frame_insD	ENST00000264895.6	37	c.9106_9107	CCDS54771.1	4																																																																																			-	HMMPfam_Calx-beta,HMMSmart_SM00237		0.391	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		-			79637128	+1	no_errors	ENST00000380674	ensembl	human	known	54_36p	in_frame_ins	INS	1.000:1.000	ATG
C9orf106	414318	genome.wustl.edu	37	9	132084431	132084431	+	RNA	DEL	C	C	-			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:132084431delC	ENST00000316786.1	+	0	392							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ggcCTGGAGACCCTCAGGAAG	0.597																																																0			9											41.0	42.0	42.0					9																	132084431		2026	4193	6219	131124252			414318			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084431delC			131124252		Frame_Shift_Del	DEL	NULL	p.P114fs	ENST00000316786.1	37	c.339		9																																																																																			(deletion:cds_exon[131123914,131124612])	NULL		0.597	C9orf106-001	KNOWN	basic	processed_transcript	C9orf106	processed_transcript	OTTHUMT00000054576.2	C			131124252	+1	no_errors	NM_001012715	genbank	human	validated	54_36p	frame_shift_del	DEL	0.001	-
FAM135B	51059	genome.wustl.edu	37	8	139207548	139207548	+	Frame_Shift_Del	DEL	C	C	-	rs376071973		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:139207548delC	ENST00000395297.1	-	9	996	c.826delG	c.(826-828)gccfs	p.A276fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	276										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCAAGGGCCTCTAGAAAG	0.403										HNSCC(54;0.14)																																						0			8											77.0	73.0	74.0					8																	139207548		1836	4085	5921	139276730	SO:0001589	frameshift_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.826delG	8.37:g.139207548delC	ENSP00000378710:p.Ala276fs		139276730	B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Del	DEL	superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676	p.A276fs	ENST00000395297.1	37	c.826	CCDS6375.2	8																																																																																			(deletion:cds_exon[139276683,139276732])	NULL		0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139276730	-1	no_errors	NM_015912	genbank	human	validated	54_36p	frame_shift_del	DEL	0.991	-
NOP58	51602	genome.wustl.edu	37	2	203142885	203142886	+	Intron	INS	-	-	AAT			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:203142885_203142886insAAT	ENST00000264279.5	+	3	401				SNORD70_ENST00000391232.1_RNA|SNORD70_ENST00000391007.1_RNA|NOP58_ENST00000467734.1_Intron	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein						cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGATCTGACTCATTCGTCACTA	0.391																																																0			2																																								202851131	SO:0001627	intron_variant	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.175+160->AAT	2.37:g.203142885_203142886insAAT			202851130	Q53SA4|Q6PK08|Q9P036|Q9UFN3	RNA	INS	-	NULL	ENST00000264279.5	37	NULL	CCDS2353.1	2																																																																																			-	-		0.391	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000212309	protein_coding	OTTHUMT00000256313.2	-	NM_015934		202851131	+1	no_errors	ENST00000391007	ensembl	human	novel	54_36p	rna	INS	0.999:0.990	AAT
