#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANK2	287	genome.wustl.edu	37	4	114158316	114158316	+	Silent	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr4:114158316C>T	ENST00000357077.4	+	6	710	c.657C>T	c.(655-657)gaC>gaT	p.D219D	ANK2_ENST00000264366.6_Silent_p.D219D|ANK2_ENST00000394537.3_Silent_p.D219D|ANK2_ENST00000506722.1_Silent_p.D198D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	219					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D219D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAATGCTGACGTACAATCCA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											137.0	126.0	130.0					4																	114158316		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.657C>T	4.37:g.114158316C>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D219	ENST00000357077.4	37	c.657	CCDS3702.1	4																																																																																			ANK2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	48	0.00	0	C	NM_001148		114158316	114158316	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	53	15.87	10	SNP	0.994	T
ATP13A2	23400	genome.wustl.edu	37	1	17316666	17316666	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr1:17316666C>T	ENST00000326735.8	-	21	2401	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	ATP13A2_ENST00000452699.1_Missense_Mutation_p.E785K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E785K			Q9NQ11	AT132_HUMAN	ATPase type 13A2	790					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCAGGAACTCGAGAGAGGCA	0.647																																						dbGAP											0													51.0	49.0	49.0					1																	17316666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2368G>A	1.37:g.17316666C>T	ENSP00000327214:p.Glu790Lys		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E790K	ENST00000326735.8	37	c.2368	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362351	0.24684	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.93953	-3.01;-3.32;-3.02	4.98	0.681	0.17986	HAD-like domain (1);	0.442696	0.27060	N	0.021135	T	0.81777	0.4894	N	0.20881	0.62	0.25882	N	0.983574	B;B;B	0.22003	0.063;0.021;0.002	B;B;B	0.17979	0.01;0.02;0.007	T	0.65857	-0.6066	10	0.06365	T	0.9	-19.9543	3.7913	0.08721	0.0:0.3498:0.355:0.2952	.	785;785;790	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	K	790;785;785	ENSP00000327214:E790K;ENSP00000341115:E785K;ENSP00000413307:E785K	ENSP00000327214:E790K	E	-	1	0	ATP13A2	17189253	0.123000	0.22298	0.343000	0.25615	0.585000	0.36419	0.413000	0.21148	0.288000	0.22398	0.561000	0.74099	GAG	ATP13A2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000159363		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	11	0.00	0	C	NM_022089		17316666	17316666	-1	no_errors	ENST00000326735	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.568	T
AZI2	64343	genome.wustl.edu	37	3	28381965	28381965	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:28381965G>C	ENST00000479665.1	-	2	675	c.144C>G	c.(142-144)atC>atG	p.I48M	AZI2_ENST00000420543.2_Missense_Mutation_p.I48M|AZI2_ENST00000457172.1_Missense_Mutation_p.I48M|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.I48M	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	48	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTCGTTTTTTGATGTCTTCAT	0.338																																						dbGAP											0													84.0	82.0	83.0					3																	28381965		2202	4300	6502	-	-	-	SO:0001583	missense	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.144C>G	3.37:g.28381965G>C	ENSP00000419371:p.Ile48Met		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.I48M	ENST00000479665.1	37	c.144	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273799	0.59649	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.62	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.71036	2.16	0.40562	D	0.981224	D;D;B;D;P	0.89917	0.973;1.0;0.283;1.0;0.912	P;D;B;D;P	0.91635	0.656;0.999;0.273;0.999;0.68	T	0.67995	-0.5526	9	0.87932	D	0	-7.8917	7.3779	0.26839	0.1278:0.0:0.6299:0.2423	.	48;48;48;48;48	Q9H6S1-3;C9JB40;C9JGA2;C9JVK8;Q9H6S1	.;.;.;.;AZI2_HUMAN	M	48	.	ENSP00000335609:I48M	I	-	3	3	AZI2	28356969	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.023000	0.49666	0.059000	0.16252	-0.133000	0.14855	ATC	AZI2	-	NULL	ENSG00000163512		0.338	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	139	0.00	0	G	NM_203326		28381965	28381965	-1	no_errors	ENST00000479665	ensembl	human	known	69_37n	missense	135	10.00	15	SNP	1.000	C
C5orf22	55322	genome.wustl.edu	37	5	31545752	31545752	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr5:31545752G>A	ENST00000325366.9	+	7	1119		c.e7-1		C5orf22_ENST00000355907.3_Splice_Site	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22											kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CTTTTTTCCAGAATGGAATCA	0.313																																						dbGAP											0													159.0	161.0	160.0					5																	31545752		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.993-1G>A	5.37:g.31545752G>A			Q8ND28|Q8WU61|Q9NUR1	Splice_Site	SNP	-	e7-1	ENST00000325366.9	37	c.993-1	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443367	0.63067	.	.	ENSG00000082213	ENST00000325366;ENST00000543911	.	.	.	5.54	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7791	0.69751	0.0707:0.0:0.9293:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C5orf22	31581509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.368000	0.90115	2.603000	0.88011	0.555000	0.69702	.	C5orf22	-	-	ENSG00000082213		0.313	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	180	0.00	0	G	NM_018356	Intron	31545752	31545752	+1	no_errors	ENST00000325366	ensembl	human	known	69_37n	splice_site	159	23.56	49	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27447710	27447710	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr2:27447710A>G	ENST00000403525.1	+	10	1496	c.1352A>G	c.(1351-1353)tAt>tGt	p.Y451C	CAD_ENST00000264705.4_Missense_Mutation_p.Y451C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAAGGTCTATTTTCTTCCC	0.532																																						dbGAP											0													143.0	152.0	149.0					2																	27447710		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1352A>G	2.37:g.27447710A>G	ENSP00000384510:p.Tyr451Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.Y451C	ENST00000403525.1	37	c.1352		2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455918	0.84209	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97688	-4.49;-4.49	5.71	5.71	0.89125	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.972;1.0	D;D	0.77004	0.937;0.989	D	0.98563	1.0642	10	0.72032	D	0.01	-2.131	14.8066	0.69962	1.0:0.0:0.0:0.0	.	451;451	F8VPD4;P27708	.;PYR1_HUMAN	C	451	ENSP00000264705:Y451C;ENSP00000384510:Y451C	ENSP00000264705:Y451C	Y	+	2	0	CAD	27301214	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	6.942000	0.75928	2.180000	0.69256	0.379000	0.24179	TAT	CAD	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	92	0.00	0	A			27447710	27447710	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	1.000	G
FAM131B	9715	genome.wustl.edu	37	7	143056010	143056010	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr7:143056010G>C	ENST00000409408.1	-	4	2000	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	FAM131B_ENST00000443739.2_Missense_Mutation_p.Q126E|FAM131B_ENST00000409578.1_Missense_Mutation_p.Q114E|FAM131B_ENST00000409346.1_Missense_Mutation_p.Q98E|FAM131B_ENST00000409222.3_Missense_Mutation_p.Q98E			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	98										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGTTGTGGCTGAACAGCTGGT	0.597																																						dbGAP											0													90.0	71.0	77.0					7																	143056010		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.292C>G	7.37:g.143056010G>C	ENSP00000387017:p.Gln98Glu		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.Q126E	ENST00000409408.1	37	c.376	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654861	0.47467	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.22336	2.29;1.96;1.97;1.97;1.97	5.26	5.26	0.73747	.	0.184781	0.47852	D	0.000201	T	0.22551	0.0544	L	0.47716	1.5	0.46478	D	0.999064	P;B	0.40660	0.726;0.344	B;B	0.40534	0.332;0.084	T	0.02150	-1.1205	10	0.21014	T	0.42	-11.7968	17.0334	0.86467	0.0:0.0:1.0:0.0	.	114;98	Q86XD5-2;Q86XD5	.;F131B_HUMAN	E	126;114;98;102;98;98	ENSP00000410603:Q126E;ENSP00000386568:Q114E;ENSP00000386984:Q98E;ENSP00000387017:Q98E;ENSP00000387147:Q98E	ENSP00000387147:Q98E	Q	-	1	0	FAM131B	142766132	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	5.953000	0.70290	2.442000	0.82660	0.561000	0.74099	CAG	FAM131B	-	NULL	ENSG00000159784		0.597	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	41	0.00	0	G	NM_014690		143056010	143056010	-1	no_errors	ENST00000443739	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	C
FOXP1	27086	genome.wustl.edu	37	3	71021818	71021818	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:71021818G>A	ENST00000318789.4	-	18	2065	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	FOXP1_ENST00000484350.1_Missense_Mutation_p.R438C|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.R516C|FOXP1_ENST00000493089.1_Missense_Mutation_p.R513C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R514C|FOXP1_ENST00000475937.1_Missense_Mutation_p.R514C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	514					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R514C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGATTATGACGCACTGCATTC	0.383			T	PAX5	ALL																																	dbGAP		Dom	yes		3	3p14.1	27086	forkhead box P1		L	1	Substitution - Missense(1)	large_intestine(1)											440.0	357.0	385.0					3																	71021818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1540C>T	3.37:g.71021818G>A	ENSP00000318902:p.Arg514Cys		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R514C	ENST00000318789.4	37	c.1540	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140933	0.77775	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.99634	4.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;0.999	D	0.97889	1.0296	10	0.87932	D	0	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	513;513;438;514	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	C	514;326;514;410;516;513;514;438	ENSP00000318902:R514C;ENSP00000419393:R514C;ENSP00000418225:R410C;ENSP00000420736:R516C;ENSP00000418524:R513C;ENSP00000418102:R514C;ENSP00000417857:R438C	ENSP00000318902:R514C	R	-	1	0	FOXP1	71104508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.906000	0.99361	0.655000	0.94253	CGT	FOXP1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000114861		0.383	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	410	0.00	0	G	NM_032682		71021818	71021818	-1	no_errors	ENST00000318789	ensembl	human	known	69_37n	missense	286	22.79	85	SNP	1.000	A
FRMPD4	9758	genome.wustl.edu	37	X	12736552	12736552	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chrX:12736552C>A	ENST00000380682.1	+	16	4113	c.3607C>A	c.(3607-3609)Caa>Aaa	p.Q1203K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1203					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCATCACTGCAAAGCGAGGG	0.587																																						dbGAP											0													120.0	115.0	117.0					X																	12736552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3607C>A	X.37:g.12736552C>A	ENSP00000370057:p.Gln1203Lys		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.Q1203K	ENST00000380682.1	37	c.3607	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066789	0.55539	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.12879	2.64	5.67	5.67	0.87782	.	0.055298	0.64402	D	0.000001	T	0.39759	0.1090	M	0.72118	2.19	0.41184	D	0.986258	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.22452	-1.0216	10	0.87932	D	0	-6.4207	18.7584	0.91840	0.0:1.0:0.0:0.0	.	1195;1203	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	1203;1194;1192	ENSP00000370057:Q1203K	ENSP00000304583:Q1192K	Q	+	1	0	FRMPD4	12646473	1.000000	0.71417	0.710000	0.30468	0.430000	0.31655	7.399000	0.79935	2.375000	0.81037	0.600000	0.82982	CAA	FRMPD4	-	NULL	ENSG00000169933		0.587	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	32	0.00	0	C	XM_045712		12736552	12736552	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	1.000	A
GREB1L	80000	genome.wustl.edu	37	18	19088425	19088425	+	Silent	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr18:19088425C>T	ENST00000580732.2	+	27	4989	c.4608C>T	c.(4606-4608)caC>caT	p.H1536H	GREB1L_ENST00000424526.1_Silent_p.H1536H|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Silent_p.H1427H			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1536						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						ACCTTTTCCACGCCATGGAGG	0.502																																						dbGAP											0													61.0	51.0	54.0					18																	19088425		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.4608C>T	18.37:g.19088425C>T			A4QN17|Q9H8F1	Silent	SNP	NULL	p.H1536	ENST00000580732.2	37	c.4608	CCDS45836.1	18																																																																																			GREB1L	-	NULL	ENSG00000141449		0.502	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	45	0.00	0	C	NM_024935		19088425	19088425	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	silent	50	13.79	8	SNP	0.998	T
HS3ST1	9957	genome.wustl.edu	37	4	11401382	11401382	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr4:11401382G>A	ENST00000002596.5	-	2	1422	c.248C>T	c.(247-249)gCg>gTg	p.A83V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	83					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CTCGTTCTCCGCGGCCGCCAC	0.652																																						dbGAP											0													65.0	55.0	58.0					4																	11401382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.248C>T	4.37:g.11401382G>A	ENSP00000002596:p.Ala83Val		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.A83V	ENST00000002596.5	37	c.248	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020276	0.75275	.	.	ENSG00000002587	ENST00000002596	T	0.54675	0.56	5.81	5.81	0.92471	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.62282	-0.6887	10	0.38643	T	0.18	.	19.0707	0.93134	0.0:0.0:1.0:0.0	.	83	O14792	HS3S1_HUMAN	V	83	ENSP00000002596:A83V	ENSP00000002596:A83V	A	-	2	0	HS3ST1	11010480	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG	HS3ST1	-	pfam_Sulfotransferase_dom	ENSG00000002587		0.652	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	8	0.00	0	G	NM_005114		11401382	11401382	-1	no_errors	ENST00000002596	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	A
KANSL3	55683	genome.wustl.edu	37	2	97268573	97268573	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr2:97268573G>C	ENST00000431828.1	-	18	2252	c.2176C>G	c.(2176-2178)Caa>Gaa	p.Q726E	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.Q639E|KANSL3_ENST00000440133.1_Missense_Mutation_p.Q546E			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	752	Ser-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGAGGCCTTGGAGGAGGCTG	0.562																																						dbGAP											0													101.0	109.0	107.0					2																	97268573		2086	4231	6317	-	-	-	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2176C>G	2.37:g.97268573G>C	ENSP00000396749:p.Gln726Glu		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	NULL	p.Q726E	ENST00000431828.1	37	c.2176	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241810	0.79912	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.57907	0.37;0.5	5.95	5.95	0.96441	.	0.055480	0.64402	D	0.000001	T	0.59059	0.2166	L	0.32530	0.975	0.80722	D	1	P;D;P;P;D	0.62365	0.882;0.991;0.75;0.75;0.971	B;P;P;P;P	0.57425	0.404;0.82;0.473;0.473;0.697	T	0.55579	-0.8119	10	0.42905	T	0.14	.	17.887	0.88858	0.0:0.0:1.0:0.0	.	520;752;726;637;612	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	E	639;612;726;546;520	ENSP00000396749:Q726E;ENSP00000406207:Q546E	ENSP00000346144:Q639E	Q	-	1	0	KIAA1310	96632300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.909000	0.92647	2.824000	0.97209	0.655000	0.94253	CAA	KANSL3	-	NULL	ENSG00000114982		0.562	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	68	0.00	0	G	NM_017991		97268573	97268573	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	1.000	C
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																						dbGAP											0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	8	0.00	0	G	NM_004807		129075877	129075877	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	1.000	T
KAT8	84148	genome.wustl.edu	37	16	31141789	31141789	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr16:31141789C>T	ENST00000543774.2	+	10	1354	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.S340F|KAT8_ENST00000219797.4_Missense_Mutation_p.S340F			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	340	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										TATGAGCTCTCCAAGCTGGAG	0.617																																						dbGAP											0													31.0	33.0	32.0					16																	31141789		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1019C>T	16.37:g.31141789C>T	ENSP00000456933:p.Ser340Phe		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S340F	ENST00000543774.2	37	c.1019	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	c	19.27	3.795755	0.70452	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.91490	0.5211	9	0.87932	D	0	-12.3241	17.1297	0.86724	0.0:1.0:0.0:0.0	.	340;340;340	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	F	340	.	ENSP00000219797:S340F	S	+	2	0	KAT8	31049290	1.000000	0.71417	0.994000	0.49952	0.517000	0.34286	7.436000	0.80404	2.594000	0.87642	0.556000	0.70494	TCC	KAT8	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000103510		0.617	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	25	0.00	0	C	NM_032188		31141789	31141789	+1	no_errors	ENST00000448516	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	1.000	T
KDM3A	55818	genome.wustl.edu	37	2	86709187	86709187	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr2:86709187G>A	ENST00000409556.1	+	18	3012	c.2647G>A	c.(2647-2649)Ggt>Agt	p.G883S	KDM3A_ENST00000409064.1_Missense_Mutation_p.G883S|KDM3A_ENST00000542128.1_Missense_Mutation_p.G831S|KDM3A_ENST00000312912.5_Missense_Mutation_p.G883S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	883					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAACAATTCTGGTTTCCTCCG	0.413																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													133.0	129.0	130.0					2																	86709187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2647G>A	2.37:g.86709187G>A	ENSP00000386660:p.Gly883Ser		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G883S	ENST00000409556.1	37	c.2647	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383352	0.61845	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60424	0.19;0.19;0.19;0.2	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	N	0.16130	0.375	0.58432	D	0.999993	P;P	0.40083	0.702;0.577	P;B	0.47603	0.551;0.349	T	0.36089	-0.9762	10	0.09084	T	0.74	.	19.0588	0.93078	0.0:0.0:1.0:0.0	.	831;883	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	883;883;883;883;831	ENSP00000386660:G883S;ENSP00000323659:G883S;ENSP00000386516:G883S;ENSP00000438324:G831S	ENSP00000323659:G883S	G	+	1	0	KDM3A	86562698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.744000	0.94065	0.655000	0.94253	GGT	KDM3A	-	NULL	ENSG00000115548		0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	153	0.00	0	G	NM_018433		86709187	86709187	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	missense	165	19.90	41	SNP	1.000	A
LRRC15	131578	genome.wustl.edu	37	3	194080618	194080618	+	Silent	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:194080618G>A	ENST00000347624.3	-	2	1240	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	LRRC15_ENST00000439944.2_Silent_p.F391F|LRRC15_ENST00000428839.1_Silent_p.F391F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	385					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGACGTTGGCGAAGATATTCC	0.577																																						dbGAP											0													56.0	54.0	55.0					3																	194080618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1155C>T	3.37:g.194080618G>A			Q495Q6|Q7RTN7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F391	ENST00000347624.3	37	c.1173	CCDS3306.1	3																																																																																			LRRC15	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000172061		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	83	0.00	0	G			194080618	194080618	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	0.002	A
LRRC15	131578	genome.wustl.edu	37	3	194080750	194080750	+	Silent	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:194080750C>T	ENST00000347624.3	-	2	1108	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	LRRC15_ENST00000439944.2_Silent_p.T347T|LRRC15_ENST00000428839.1_Silent_p.T347T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	341					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CCCGAAGCTCCGTTAGCCCGT	0.577																																						dbGAP											0													54.0	53.0	53.0					3																	194080750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1023G>A	3.37:g.194080750C>T			Q495Q6|Q7RTN7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T347	ENST00000347624.3	37	c.1041	CCDS3306.1	3																																																																																			LRRC15	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000172061		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	50	0.00	0	C			194080750	194080750	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	silent	44	13.73	7	SNP	0.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56180536	56180537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr5:56180536_56180537insA	ENST00000399503.3	+	16	3865_3866	c.3865_3866insA	c.(3865-3867)gaafs	p.E1289fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAAGTAGTAGAAGCACTAAGA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3867dupA	5.37:g.56180538_56180538dupA	ENSP00000382423:p.Glu1289fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.A1290fs	ENST00000399503.3	37	c.3865_3866	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.376	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	71	0.00	0	-	XM_042066		56180536	56180537	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	71	19.32	17	INS	1.000:1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56180586	56180588	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr5:56180586_56180588delCAT	ENST00000399503.3	+	16	3915_3917	c.3915_3917delCAT	c.(3913-3918)aacatc>aac	p.I1307del		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATCATCCAAACATCATTAGGATG	0.369																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3915_3917delCAT	5.37:g.56180589_56180591delCAT	ENSP00000382423:p.Ile1307del			In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.I1307in_frame_del	ENST00000399503.3	37	c.3915_3917	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.369	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	75	0.00	0	CAT	XM_042066		56180586	56180588	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	in_frame_del	84	13.27	13	DEL	1.000:1.000:1.000	-
MASP1	5648	genome.wustl.edu	37	3	186953790	186953790	+	Intron	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:186953790G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Silent_p.P510P|MASP1_ENST00000296280.6_Silent_p.P623P|MASP1_ENST00000495249.1_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGGCACCACGGGTAACTTGA	0.557																																						dbGAP											0													109.0	92.0	97.0					3																	186953790		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5478C>T	3.37:g.186953790G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.P623	ENST00000337774.5	37	c.1869	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000127241		0.557	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	53	0.00	0	G	NM_001879		186953790	186953790	-1	no_errors	ENST00000296280	ensembl	human	known	69_37n	silent	51	25.00	17	SNP	0.005	A
MGAM	8972	genome.wustl.edu	37	7	141785701	141785701	+	Intron	SNP	C	C	T	rs540388030	byFrequency	TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr7:141785701C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Silent_p.A2192A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAGTTTGCCGGGTTTCCAG	0.567													t|||	3	0.000599042	0.0015	0.0	5008	,	,		16373	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-8719C>T	7.37:g.141785701C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A2193	ENST00000549489.2	37	c.6579	CCDS47727.1	7																																																																																			MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.567	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	32	0.00	0	C			141785701	141785701	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	silent	26	33.33	13	SNP	0.000	T
NAV1	89796	genome.wustl.edu	37	1	201772760	201772760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr1:201772760C>G	ENST00000367296.4	+	16	3977	c.3557C>G	c.(3556-3558)tCa>tGa	p.S1186*	NAV1_ENST00000367300.3_Nonsense_Mutation_p.S1129*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.S795*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Nonsense_Mutation_p.S1186*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.S1142*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.S1178*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1186					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATAGCATCTCAAGCCTCAAC	0.448																																						dbGAP											0													89.0	77.0	81.0					1																	201772760		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3557C>G	1.37:g.201772760C>G	ENSP00000356265:p.Ser1186*		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	smart_AAA+_ATPase	p.S1186*	ENST00000367296.4	37	c.3557	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.084228|11.084228	0.99513|0.99513	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.080064	.|0.56097	.|D	.|0.000027	T|.	0.77370|.	0.4120|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81152|.	-0.1063|.	3|.	.|0.87932	.|D	.|0	-11.4176|-11.4176	17.9614|17.9614	0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	169|1142;1186;1186;1178;1129;711;795	.|.	.|ENSP00000295624:S1186X	Q|S	+|+	1|2	0|0	NAV1|NAV1	200039383|200039383	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	5.997000|5.997000	0.70646|0.70646	2.332000|2.332000	0.79248|0.79248	0.558000|0.558000	0.71614|0.71614	CAA|TCA	NAV1	-	NULL	ENSG00000134369		0.448	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	58	0.00	0	C	NM_020443		201772760	201772760	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	nonsense	65	10.59	9	SNP	1.000	G
NEIL1	79661	genome.wustl.edu	37	15	75641328	75641328	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr15:75641328G>A	ENST00000564784.1	+	3	711	c.82G>A	c.(82-84)Gag>Aag	p.E28K	NEIL1_ENST00000569035.1_Missense_Mutation_p.E28K|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.E28K			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	28					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CGGCTGCGTGGAGAAGTCCTC	0.647								Base excision repair (BER), DNA glycosylases																														dbGAP											0													41.0	39.0	39.0					15																	75641328		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.82G>A	15.37:g.75641328G>A	ENSP00000457352:p.Glu28Lys		D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.E28K	ENST00000564784.1	37	c.82	CCDS10278.1	15	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862904	0.32884	.	.	ENSG00000140398	ENST00000355059;ENST00000336572	T	0.13420	2.59	5.4	5.4	0.78164	DNA glycosylase/AP lyase, catalytic domain (4);	0.206192	0.51477	D	0.000096	T	0.17066	0.0410	M	0.61703	1.905	0.45747	D	0.998643	P	0.40875	0.731	B	0.37346	0.247	T	0.01748	-1.1282	10	0.35671	T	0.21	-36.9893	15.3672	0.74531	0.0:0.1396:0.8604:0.0	.	28	Q96FI4	NEIL1_HUMAN	K	28	ENSP00000347170:E28K	ENSP00000338328:E28K	E	+	1	0	NEIL1	73428381	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	4.408000	0.59761	2.525000	0.85131	0.561000	0.74099	GAG	NEIL1	-	pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	ENSG00000140398		0.647	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	9	0.00	0	G	NM_024608		75641328	75641328	+1	no_errors	ENST00000355059	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	1.000	A
NPAS1	4861	genome.wustl.edu	37	19	47535538	47535538	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr19:47535538C>T	ENST00000602212.1	+	4	581	c.361C>T	c.(361-363)Cca>Tca	p.P121S	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.P121S			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	121				LRAAGPPAGLAPGRRGPAALVSEVF -> NSRRPALRAAAA GARPAGGPGSQPP (in Ref. 6). {ECO:0000305}.	central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TGCCCCAGCCCCAGGCCGCCG	0.662											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													33.0	39.0	37.0					19																	47535538		2199	4300	6499	-	-	-	SO:0001583	missense	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.361C>T	19.37:g.47535538C>T	ENSP00000469142:p.Pro121Ser	947	B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.P121S	ENST00000602212.1	37	c.361	CCDS12694.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481962	0.44147	.	.	ENSG00000130751	ENST00000449844	T	0.10288	2.89	4.4	3.37	0.38596	.	0.272210	0.30593	N	0.009284	T	0.04952	0.0133	N	0.14661	0.345	0.80722	D	1	B	0.23442	0.085	B	0.17979	0.02	T	0.35076	-0.9803	10	0.10111	T	0.7	.	7.6162	0.28158	0.0:0.8862:0.0:0.1138	.	121	Q99742	NPAS1_HUMAN	S	121	ENSP00000405290:P121S	ENSP00000405290:P121S	P	+	1	0	NPAS1	52227378	0.417000	0.25432	0.995000	0.50966	0.539000	0.34962	1.270000	0.33086	2.461000	0.83175	0.561000	0.74099	CCA	NPAS1	-	NULL	ENSG00000130751		0.662	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	18	0.00	0	C	NM_002517		47535538	47535538	+1	no_errors	ENST00000449844	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.980	T
OTUB1	55611	genome.wustl.edu	37	11	63764394	63764394	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr11:63764394T>C	ENST00000538426.1	+	5	448	c.404T>C	c.(403-405)aTt>aCt	p.I135T	OTUB1_ENST00000535715.1_Missense_Mutation_p.I135T|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543988.1_Missense_Mutation_p.I105T|OTUB1_ENST00000422031.2_Missense_Mutation_p.I172T|OTUB1_ENST00000428192.2_Missense_Mutation_p.I135T|OTUB1_ENST00000543004.1_Missense_Mutation_p.I144T	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	135	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Ubiquitin-conjugating enzyme E2 binding.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GAATTCACAATTGAGGATTTC	0.607																																						dbGAP											0													87.0	74.0	78.0					11																	63764394		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.404T>C	11.37:g.63764394T>C	ENSP00000444357:p.Ile135Thr		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.I172T	ENST00000538426.1	37	c.515	CCDS8055.1	11	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952495	0.53293	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.9	3.73	0.42828	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.46819	1.47	0.52099	D	0.999947	B;D;B	0.61080	0.142;0.989;0.142	P;D;P	0.75484	0.732;0.986;0.732	T	0.49312	-0.8953	10	0.42905	T	0.14	.	10.2173	0.43177	0.149:0.0:0.0:0.8509	.	172;179;135	B4DPD5;Q96FW1-2;Q96FW1	.;.;OTUB1_HUMAN	T	135;135;172;135;144;105	ENSP00000440211:I135T;ENSP00000402551:I135T;ENSP00000416973:I172T;ENSP00000444357:I135T;ENSP00000437453:I144T;ENSP00000441328:I105T	ENSP00000416973:I172T	I	+	2	0	OTUB1	63520970	1.000000	0.71417	0.974000	0.42286	0.967000	0.64934	6.901000	0.75693	0.952000	0.37798	0.533000	0.62120	ATT	OTUB1	-	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	ENSG00000167770		0.607	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB1	HGNC	protein_coding	OTTHUMT00000396277.1	60	0.00	0	T	NM_017670		63764394	63764394	+1	no_errors	ENST00000422031	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	C
PAK3	5063	genome.wustl.edu	37	X	110385364	110385364	+	Silent	SNP	T	T	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chrX:110385364T>A	ENST00000372010.1	+	6	658	c.216T>A	c.(214-216)ctT>ctA	p.L72L	PAK3_ENST00000446737.1_Silent_p.L72L|PAK3_ENST00000417227.1_Silent_p.L72L|PAK3_ENST00000425146.1_Silent_p.L72L|PAK3_ENST00000519681.1_Silent_p.L72L|PAK3_ENST00000372007.5_Silent_p.L72L|PAK3_ENST00000360648.4_Silent_p.L72L|PAK3_ENST00000262836.4_Silent_p.L72L|PAK3_ENST00000518291.1_Silent_p.L72L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	72	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTCTCTTCCTTCAGACT	0.413										TSP Lung(19;0.15)																												dbGAP											0													194.0	190.0	191.0					X																	110385364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.216T>A	X.37:g.110385364T>A			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.L72	ENST00000372010.1	37	c.216	CCDS48153.1	X																																																																																			PAK3	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	ENSG00000077264		0.413	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	170	0.00	0	T	NM_002578		110385364	110385364	+1	no_errors	ENST00000360648	ensembl	human	known	69_37n	silent	183	12.86	27	SNP	1.000	A
PCDHGB6	56100	genome.wustl.edu	37	5	140788421	140788421	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr5:140788421G>A	ENST00000520790.1	+	1	652	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G218R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGACGGAGGGGACCCACC	0.463																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											33.0	34.0	34.0					5																	140788421		1865	4107	5972	-	-	-	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.652G>A	5.37:g.140788421G>A	ENSP00000428603:p.Gly218Arg		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G218R	ENST00000520790.1	37	c.652	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635131	0.67130	.	.	ENSG00000253305	ENST00000520790	T	0.27720	1.65	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75496	0.3857	H	0.99590	4.645	0.39742	D	0.971762	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87775	0.2608	9	0.87932	D	0	.	18.6589	0.91465	0.0:0.0:1.0:0.0	.	218;218	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	218	ENSP00000428603:G218R	ENSP00000428603:G218R	G	+	1	0	PCDHGB6	140768605	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	7.970000	0.88000	2.502000	0.84385	0.467000	0.42956	GGG	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253305		0.463	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	49	0.00	0	G	NM_018926		140788421	140788421	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	117	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	63	28.09	25	SNP	1.000	A
POM121L9P	29774	genome.wustl.edu	37	22	24659633	24659633	+	RNA	SNP	G	G	A	rs117459483|rs371456034	byFrequency	TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr22:24659633G>A	ENST00000414583.2	+	0	3158					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CGGCCACACCGGCCGGACACG	0.647													G|||	29	0.00579073	0.0	0.0101	5008	,	,		22799	0.0		0.0219	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659633G>A				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.647	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	11	0.00	0	G	NM_014549		24659633	24659633	+1	no_errors	ENST00000414583	ensembl	human	known	69_37n	rna	7	41.67	5	SNP	0.997	A
PTEN	5728	genome.wustl.edu	37	10	89624271	89624272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr10:89624271_89624272insT	ENST00000371953.3	+	1	1402_1403	c.45_46insT	c.(46-48)tatfs	p.Y16fs	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	16	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.Y16fs*28(3)|p.R15S(3)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.Y16fs*27(1)|p.R15fs*9(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAAAGGAGATATCAAGAGGA	0.475		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	64	Whole gene deletion(37)|Unknown(13)|Insertion - Frameshift(5)|Deletion - Frameshift(5)|Substitution - Missense(3)|Deletion - In frame(1)	central_nervous_system(14)|prostate(14)|endometrium(7)|skin(7)|lung(6)|ovary(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|urinary_tract(1)|kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.46dupT	10.37:g.89624272_89624272dupT	ENSP00000361021:p.Tyr16fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y15fs	ENST00000371953.3	37	c.45_46	CCDS31238.1	10																																																																																			PTEN	-	pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.475	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	143	0.00	0	-	NM_000314		89624271	89624272	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_ins	117	23.03	35	INS	1.000:1.000	T
PPRC1	23082	genome.wustl.edu	37	10	103908402	103908402	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr10:103908402C>T	ENST00000278070.2	+	11	4607	c.4568C>T	c.(4567-4569)tCa>tTa	p.S1523L	PPRC1_ENST00000413464.2_Missense_Mutation_p.S1259L|PPRC1_ENST00000370012.1_Missense_Mutation_p.S490L|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1523	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTTATCGTTCACATGACCAT	0.493																																						dbGAP											0													189.0	174.0	179.0					10																	103908402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4568C>T	10.37:g.103908402C>T	ENSP00000278070:p.Ser1523Leu		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S1523L	ENST00000278070.2	37	c.4568	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	c	14.70	2.612419	0.46631	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.51574	0.7;0.7;0.7	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);	0.408988	0.28252	N	0.016028	T	0.48466	0.1501	L	0.27053	0.805	0.09310	N	1	D;P;P	0.53619	0.961;0.956;0.926	P;P;P	0.51016	0.454;0.656;0.454	T	0.48031	-0.9070	10	0.72032	D	0.01	.	17.7848	0.88534	0.0:1.0:0.0:0.0	.	1259;1401;1523	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1523;1259;490	ENSP00000278070:S1523L;ENSP00000399743:S1259L;ENSP00000359029:S490L	ENSP00000278070:S1523L	S	+	2	0	PPRC1	103898392	0.918000	0.31147	0.997000	0.53966	0.994000	0.84299	4.413000	0.59795	2.704000	0.92352	0.549000	0.68633	TCA	PPRC1	-	NULL	ENSG00000148840		0.493	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	85	0.00	0	C	NM_015062		103908402	103908402	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	missense	68	34.62	36	SNP	0.024	T
RERE	473	genome.wustl.edu	37	1	8426006	8426006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr1:8426006C>T	ENST00000337907.3	-	14	1947	c.1313G>A	c.(1312-1314)tGg>tAg	p.W438*	RERE_ENST00000377464.1_Nonsense_Mutation_p.W170*|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400907.2_Nonsense_Mutation_p.W438*|RERE_ENST00000400908.2_Nonsense_Mutation_p.W438*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	438	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTCTTCTTCCAATAGTAATA	0.627																																						dbGAP											0													42.0	43.0	42.0					1																	8426006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1313G>A	1.37:g.8426006C>T	ENSP00000338629:p.Trp438*		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.W438*	ENST00000337907.3	37	c.1313	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.880310	0.97062	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6306	19.4162	0.94700	0.0:1.0:0.0:0.0	.	.	.	.	X	438;170;438;438	.	ENSP00000338629:W438X	W	-	2	0	RERE	8348593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TGG	RERE	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000142599		0.627	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	52	0.00	0	C			8426006	8426006	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	nonsense	44	15.38	8	SNP	1.000	T
RHOT2	89941	genome.wustl.edu	37	16	723516	723516	+	Silent	SNP	C	C	T			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr16:723516C>T	ENST00000315082.4	+	19	1881	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	RHBDL1_ENST00000352681.3_5'Flank|RHBDL1_ENST00000219551.2_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	589	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTCTTCCTTCTGGCTCCGGG	0.622																																						dbGAP											0													69.0	84.0	79.0					16																	723516		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1767C>T	16.37:g.723516C>T			A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2	p.F589	ENST00000315082.4	37	c.1767	CCDS10417.1	16																																																																																			RHOT2	-	pirsf_Small_GTPase_Miro	ENSG00000140983		0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOT2	HGNC	protein_coding	OTTHUMT00000241617.1	31	0.00	0	C	NM_138769		723516	723516	+1	no_errors	ENST00000315082	ensembl	human	known	69_37n	silent	34	33.33	17	SNP	1.000	T
SGK2	10110	genome.wustl.edu	37	20	42195054	42195054	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr20:42195054G>A	ENST00000341458.4	+	1	318	c.99G>A	c.(97-99)atG>atA	p.M33I	SGK2_ENST00000426287.1_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	33					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCCCTGGATGGGCGGAGCTG	0.617																																						dbGAP											0													110.0	112.0	111.0					20																	42195054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.99G>A	20.37:g.42195054G>A	ENSP00000340608:p.Met33Ile		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.M33I	ENST00000341458.4	37	c.99	CCDS13320.1	20	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509169	0.27036	.	.	ENSG00000101049	ENST00000341458	T	0.70164	-0.46	3.39	-4.9	0.03094	.	3.989330	0.01104	U	0.005459	T	0.40247	0.1109	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	10	0.16420	T	0.52	.	4.6515	0.12598	0.5343:0.0:0.3161:0.1496	.	33	Q9HBY8	SGK2_HUMAN	I	33	ENSP00000340608:M33I	ENSP00000340608:M33I	M	+	3	0	SGK2	41628468	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.227000	0.09126	-0.991000	0.03476	0.561000	0.74099	ATG	SGK2	-	NULL	ENSG00000101049		0.617	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	60	0.00	0	G			42195054	42195054	+1	no_errors	ENST00000341458	ensembl	human	known	69_37n	missense	90	22.41	26	SNP	0.000	A
TMPRSS6	164656	genome.wustl.edu	37	22	37482397	37482397	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr22:37482397G>A	ENST00000346753.3	-	8	1042	c.926C>T	c.(925-927)gCg>gTg	p.A309V	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A300V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A309V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A300V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A300V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	309	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCAGACGACCGCCATGATGGC	0.667																																						dbGAP											0													26.0	25.0	25.0					22																	37482397		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.926C>T	22.37:g.37482397G>A	ENSP00000334962:p.Ala309Val		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.A300V	ENST00000346753.3	37	c.899	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154311	0.57259	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.83	3.77	0.43336	CUB (1);	0.326711	0.29172	N	0.012925	T	0.33498	0.0865	N	0.24115	0.695	0.32415	N	0.550097	D;P;P	0.57899	0.981;0.789;0.84	B;B;B	0.39503	0.301;0.128;0.089	T	0.48822	-0.9001	10	0.56958	D	0.05	.	7.6666	0.28434	0.0875:0.1672:0.7453:0.0	.	309;300;309	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	300;309;300;300;309	ENSP00000371211:A300V;ENSP00000334962:A309V;ENSP00000385453:A300V;ENSP00000384964:A300V;ENSP00000397691:A309V	ENSP00000334962:A309V	A	-	2	0	TMPRSS6	35812343	1.000000	0.71417	0.912000	0.35992	0.930000	0.56654	5.818000	0.69236	0.958000	0.37956	0.655000	0.94253	GCG	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB	ENSG00000187045		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	13	0.00	0	G	NM_153609		37482397	37482397	-1	no_errors	ENST00000381792	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.972	A
ZNF254	9534	genome.wustl.edu	37	19	24270126	24270126	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr19:24270126G>A	ENST00000357002.4	+	1	132	c.17G>A	c.(16-18)aGa>aAa	p.R6K	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.R6K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	6					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGACCCCCTAGAAGCCTAGAA	0.602																																						dbGAP											0													72.0	69.0	70.0					19																	24270126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.17G>A	19.37:g.24270126G>A	ENSP00000349494:p.Arg6Lys		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R6K	ENST00000357002.4	37	c.17	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.419017	0.00188	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.05786	3.39;5.69	0.225	-0.451	0.12214	Krueppel-associated box (1);	.	.	.	.	T	0.02304	0.0071	N	0.05441	-0.05	0.09310	N	0.999995	B	0.18863	0.031	B	0.20767	0.031	T	0.45279	-0.9272	8	0.02654	T	1	.	.	.	.	.	6	O75437	ZN254_HUMAN	K	6	ENSP00000349494:R6K;ENSP00000341573:R6K	ENSP00000341573:R6K	R	+	2	0	ZNF254	24061966	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	-0.484000	0.06528	-0.694000	0.05113	-0.680000	0.03767	AGA	ZNF254	-	superfamily_Krueppel-associated_box	ENSG00000213096		0.602	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	105	0.00	0	G	NM_004876		24270126	24270126	+1	no_errors	ENST00000357002	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	0.004	A
ZNF417	147687	genome.wustl.edu	37	19	58423433	58423433	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr19:58423433G>A	ENST00000312026.5	-	2	322	c.158C>T	c.(157-159)tCg>tTg	p.S53L	ZNF417_ENST00000595559.1_Missense_Mutation_p.S52L|CTD-2583A14.9_ENST00000602124.1_Missense_Mutation_p.S10L|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTTACCCAGCGAGGATATGAG	0.502																																						dbGAP											0													51.0	48.0	49.0					19																	58423433		2202	4280	6482	-	-	-	SO:0001583	missense	0			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.158C>T	19.37:g.58423433G>A	ENSP00000311319:p.Ser53Leu		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S53L	ENST00000312026.5	37	c.158	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	11.92	1.781296	0.31502	.	.	ENSG00000173480	ENST00000312026	T	0.03004	4.08	1.9	1.9	0.25705	Krueppel-associated box (4);	.	.	.	.	T	0.18341	0.0440	M	0.89353	3.025	0.41946	D	0.990634	D;D	0.89917	1.0;1.0	P;D	0.81914	0.847;0.995	T	0.02450	-1.1157	9	0.62326	D	0.03	.	9.8157	0.40851	0.0:0.0:1.0:0.0	.	53;53	F5H0M9;Q8TAU3	.;ZN417_HUMAN	L	53	ENSP00000311319:S53L	ENSP00000311319:S53L	S	-	2	0	ZNF417	63115245	0.129000	0.22400	0.032000	0.17829	0.311000	0.27955	1.659000	0.37387	1.363000	0.46019	0.305000	0.20034	TCG	ZNF417	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000173480		0.502	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	150	0.00	0	G	NM_152475		58423433	58423433	-1	no_errors	ENST00000312026	ensembl	human	known	69_37n	missense	142	13.94	23	SNP	0.257	A
ZNF483	158399	genome.wustl.edu	37	9	114290002	114290002	+	Silent	SNP	G	G	A			TCGA-D8-A27L-01A-11D-A16D-09	TCGA-D8-A27L-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	10666107-dffb-4c51-b3ee-71e70cde7c88	39acbfee-141d-4c6a-bf04-abb40344659f	g.chr9:114290002G>A	ENST00000309235.5	+	2	485	c.327G>A	c.(325-327)agG>agA	p.R109R	ZNF483_ENST00000374374.3_Silent_p.R109R|ZNF483_ENST00000355824.3_Silent_p.R109R|ZNF483_ENST00000358151.4_Silent_p.R109R	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	109	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGGAGATCAGGATTTGGGTAA	0.433																																						dbGAP											0													103.0	108.0	106.0					9																	114290002		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.327G>A	9.37:g.114290002G>A			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R109	ENST00000309235.5	37	c.327	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000173258		0.433	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	100	0.00	0	G	XM_088567		114290002	114290002	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	silent	79	26.17	28	SNP	1.000	A
