#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
ACLY	47	genome.wustl.edu	37	17	40068795	40068798	+	Splice_Site	DEL	TCTG	TCTG	-			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	TCTG	TCTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr17:40068795_40068798delTCTG	ENST00000352035.2	-	3	290	c.160delCAGA	c.(160-162)cag>ag	p.Q54fs	ACLY_ENST00000353196.1_Splice_Site_p.Q54fs|ACLY_ENST00000393896.2_Splice_Site_p.Q54fs|ACLY_ENST00000537919.1_Splice_Site_p.Q54fs|ACLY_ENST00000590151.1_Splice_Site_p.Q54fs	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	54	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACTACCAAGTTCTGGAACAAAAGC	0.471																																					Colon(64;807 1396 15971 30971)	dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.160-1CAGA>-	17.37:g.40068795_40068798delTCTG			B4DIM0|B4E3P0|Q13037|Q9BRL0	Frame_Shift_Del	DEL	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.N54fs	ENST00000352035.2	37	c.160	CCDS11412.1	17																																																																																			ACLY	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase	ENSG00000131473		0.471	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	87	0.00	0	TCTG	NM_001096	Frame_Shift_Del	40068795	40068798	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	frame_shift_del	66	34.65	35	DEL	0.997	-
ACVR1B	91	genome.wustl.edu	37	12	52370172	52370172	+	Silent	SNP	C	C	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr12:52370172C>T	ENST00000257963.4	+	3	470	c.393C>T	c.(391-393)atC>atT	p.I131I	ACVR1B_ENST00000542485.1_Silent_p.I79I|ACVR1B_ENST00000415850.2_Silent_p.I131I|ACVR1B_ENST00000541224.1_Silent_p.I131I|ACVR1B_ENST00000426655.2_Silent_p.I131I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	131					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TAGGCATCATCGCCGGCCCGG	0.537																																						dbGAP											0													132.0	131.0	131.0					12																	52370172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.393C>T	12.37:g.52370172C>T			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I131	ENST00000257963.4	37	c.393	CCDS8816.1	12																																																																																			ACVR1B	-	NULL	ENSG00000135503		0.537	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	122	0.81	1	C	NM_020328		52370172	52370172	+1	no_errors	ENST00000257963	ensembl	human	known	69_37n	silent	92	36.99	54	SNP	0.994	T
AHCY	191	genome.wustl.edu	37	20	32878392	32878392	+	Silent	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr20:32878392G>A	ENST00000217426.2	-	7	896	c.819C>T	c.(817-819)gtC>gtT	p.V273V	AHCY_ENST00000538132.1_Silent_p.V245V|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	273					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGTGGTGGTGACAAAGATGT	0.597																																						dbGAP											0													158.0	144.0	149.0					20																	32878392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.819C>T	20.37:g.32878392G>A			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.V273	ENST00000217426.2	37	c.819	CCDS13233.1	20																																																																																			AHCY	-	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000101444		0.597	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	167	0.00	0	G	NM_000687		32878392	32878392	-1	no_errors	ENST00000217426	ensembl	human	known	69_37n	silent	138	37.56	83	SNP	0.999	A
AKAP9	10142	genome.wustl.edu	37	7	91652213	91652213	+	Silent	SNP	C	C	G			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr7:91652213C>G	ENST00000359028.2	+	15	4299	c.4074C>G	c.(4072-4074)ctC>ctG	p.L1358L	AKAP9_ENST00000358100.2_Silent_p.L1358L|AKAP9_ENST00000356239.3_Silent_p.L1346L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1358					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGAAAGCCTCATATCCTCTT	0.363			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													74.0	69.0	71.0					7																	91652213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4074C>G	7.37:g.91652213C>G			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.L1358	ENST00000359028.2	37	c.4074		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.363	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		179	0.00	0	C	NM_005751		91652213	91652213	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	silent	101	30.34	44	SNP	0.000	G
ALPK2	115701	genome.wustl.edu	37	18	56191061	56191061	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr18:56191061A>C	ENST00000361673.3	-	8	5855	c.5642T>G	c.(5641-5643)cTg>cGg	p.L1881R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1881						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCGACTTGACAGCTGTTTGAG	0.453																																						dbGAP											0													137.0	134.0	135.0					18																	56191061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5642T>G	18.37:g.56191061A>C	ENSP00000354991:p.Leu1881Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L1881R	ENST00000361673.3	37	c.5642	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293540	0.40594	.	.	ENSG00000198796	ENST00000361673	T	0.07114	3.22	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.308479	0.25783	N	0.028331	T	0.16727	0.0402	L	0.34521	1.04	0.36135	D	0.846404	D	0.53462	0.96	P	0.58266	0.836	T	0.06144	-1.0843	10	0.87932	D	0	-4.9586	15.0281	0.71684	1.0:0.0:0.0:0.0	.	1881	Q86TB3	ALPK2_HUMAN	R	1881	ENSP00000354991:L1881R	ENSP00000354991:L1881R	L	-	2	0	ALPK2	54342041	1.000000	0.71417	0.895000	0.35142	0.423000	0.31445	6.672000	0.74477	2.031000	0.59945	0.524000	0.50904	CTG	ALPK2	-	superfamily_Kinase-like_dom	ENSG00000198796		0.453	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	205	0.00	0	A	NM_052947		56191061	56191061	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	missense	44	51.09	47	SNP	0.993	C
AP1B1	162	genome.wustl.edu	37	22	29727482	29727482	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr22:29727482G>A	ENST00000405198.1	-	18	2511	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.T820I|AP1B1_ENST00000356015.2_Missense_Mutation_p.T820I|AP1B1_ENST00000357586.2_Missense_Mutation_p.T827I|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000415447.1_Missense_Mutation_p.T820I|AP1B1_ENST00000432560.2_Missense_Mutation_p.T820I|AP1B1_ENST00000317368.7_Missense_Mutation_p.T800I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	827					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGGTACAAGGTGCTGAAGTA	0.597																																						dbGAP											0													196.0	186.0	189.0					22																	29727482		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2480C>T	22.37:g.29727482G>A	ENSP00000384194:p.Thr827Ile		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.T827I	ENST00000405198.1	37	c.2480	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	G	4.535	0.099330	0.08681	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.51	3.47	0.39725	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.261173	0.45606	D	0.000359	T	0.28167	0.0695	L	0.32530	0.975	0.40780	D	0.983166	B;B;B;B;B;B	0.17852	0.002;0.0;0.0;0.0;0.0;0.024	B;B;B;B;B;B	0.19391	0.003;0.003;0.003;0.002;0.005;0.025	T	0.07385	-1.0775	10	0.19147	T	0.46	-32.9062	8.0066	0.30329	0.0862:0.1627:0.7511:0.0	.	380;800;820;827;820;24	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	I	827;820;820;827;800;820;820	ENSP00000350199:T827I;ENSP00000348297:T820I;ENSP00000400065:T820I;ENSP00000384194:T827I;ENSP00000319361:T800I;ENSP00000386071:T820I;ENSP00000387612:T820I	ENSP00000319361:T800I	T	-	2	0	AP1B1	28057482	1.000000	0.71417	0.993000	0.49108	0.014000	0.08584	2.238000	0.43070	1.090000	0.41315	-0.312000	0.09012	ACC	AP1B1	-	superfamily_Coatomer/clathrin_app_Ig-like	ENSG00000100280		0.597	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	89	0.00	0	G	NM_001127		29727482	29727482	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	1.000	A
BCL6B	255877	genome.wustl.edu	37	17	6929853	6929853	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr17:6929853G>T	ENST00000293805.5	+	6	1059	c.967G>T	c.(967-969)Gac>Tac	p.D323Y		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	323					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						GGTTCCTGGGGACGAAGACAA	0.562																																						dbGAP											0													123.0	133.0	130.0					17																	6929853		2104	4234	6338	-	-	-	SO:0001583	missense	0			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.967G>T	17.37:g.6929853G>T	ENSP00000293805:p.Asp323Tyr		Q6PCB4	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D323Y	ENST00000293805.5	37	c.967	CCDS42248.1	17	.	.	.	.	.	.	.	.	.	.	G	7.620	0.676536	0.14841	.	.	ENSG00000161940	ENST00000293805	T	0.07688	3.17	5.82	3.44	0.39384	.	1.197950	0.05908	N	0.631166	T	0.07683	0.0193	N	0.12961	0.28	0.19575	N	0.999964	B	0.18310	0.027	B	0.25987	0.065	T	0.34329	-0.9833	10	0.66056	D	0.02	.	10.0349	0.42122	0.0874:0.1457:0.7669:0.0	.	323	Q8N143	BCL6B_HUMAN	Y	323	ENSP00000293805:D323Y	ENSP00000293805:D323Y	D	+	1	0	BCL6B	6870577	0.789000	0.28775	0.692000	0.30179	0.128000	0.20619	0.693000	0.25497	1.432000	0.47375	0.467000	0.42956	GAC	BCL6B	-	NULL	ENSG00000161940		0.562	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	HGNC	protein_coding	OTTHUMT00000439455.2	60	0.00	0	G	NM_181844		6929853	6929853	+1	no_errors	ENST00000293805	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.261	T
BNC1	646	genome.wustl.edu	37	15	83932783	83932783	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr15:83932783G>A	ENST00000345382.2	-	4	1305	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	BNC1_ENST00000569704.1_Missense_Mutation_p.A400V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	407					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTGGGGTTGGCGCTATGGCG	0.527																																						dbGAP											0													171.0	161.0	165.0					15																	83932783		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1220C>T	15.37:g.83932783G>A	ENSP00000307041:p.Ala407Val		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A407V	ENST00000345382.2	37	c.1220	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030546	0.93575	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.54071	0.59	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.056678	0.64402	D	0.000001	T	0.74390	0.3710	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.70487	0.969;0.793	T	0.77321	-0.2631	10	0.87932	D	0	-27.1127	19.4213	0.94723	0.0:0.0:1.0:0.0	.	400;407	F5GY04;Q01954	.;BNC1_HUMAN	V	407;400	ENSP00000307041:A407V	ENSP00000307041:A407V	A	-	2	0	BNC1	81723787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.787000	0.99055	2.589000	0.87451	0.655000	0.94253	GCC	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.527	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	145	0.00	0	G	NM_001717		83932783	83932783	-1	no_errors	ENST00000345382	ensembl	human	known	69_37n	missense	52	41.76	38	SNP	1.000	A
BRCA2	675	genome.wustl.edu	37	13	32912296	32912298	+	In_Frame_Del	DEL	TGT	TGT	-	rs397507316		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr13:32912296_32912298delTGT	ENST00000380152.3	+	11	4037_4039	c.3804_3806delTGT	c.(3802-3807)tctgtt>tct	p.V1270del	BRCA2_ENST00000544455.1_In_Frame_Del_p.V1270del			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1270					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCATGATTCTGTTGTTTCAATG	0.266			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3804_3806delTGT	13.37:g.32912299_32912301delTGT	ENSP00000369497:p.Val1270del		O00183|O15008|Q13879|Q5TBJ7	In_Frame_Del	DEL	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.V1270in_frame_del	ENST00000380152.3	37	c.3804_3806	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.266	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	81	0.00	0	TGT	NM_000059		32912296	32912298	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	in_frame_del	20	55.56	25	DEL	0.207:0.005:0.021	-
CECR2	27443	genome.wustl.edu	37	22	18022046	18022047	+	Frame_Shift_Ins	INS	-	-	G	rs41277560	byFrequency	TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr22:18022046_18022047insG	ENST00000400585.2	+	16	2163_2164	c.1725_1726insG	c.(1726-1728)gggfs	p.G576fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.G717fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.G718fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	759					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCCCCGGCATGGGGGGGCTCC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1732dupG	22.37:g.18022053_18022053dupG	ENSP00000383428:p.Gly576fs		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A718fs	ENST00000400585.2	37	c.2148_2149		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.550	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	47	0.00	0	-	NM_031413		18022046	18022047	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	frame_shift_ins	39	11.36	5	INS	0.066:0.122	G
DISP1	84976	genome.wustl.edu	37	1	223177609	223177609	+	Missense_Mutation	SNP	C	C	T	rs191290309		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr1:223177609C>T	ENST00000284476.6	+	8	3034	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	957					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAGCTGAGTTCGGCCCCTGAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20875	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	69.0	73.0					1																	223177609		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2870C>T	1.37:g.223177609C>T	ENSP00000284476:p.Ser957Leu		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S957L	ENST00000284476.6	37	c.2870	CCDS1536.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.26	1.884471	0.33255	.	.	ENSG00000154309	ENST00000284476	D	0.91686	-2.89	5.84	5.84	0.93424	.	0.333100	0.36703	N	0.002447	D	0.89543	0.6745	L	0.50333	1.59	0.09310	N	0.999999	P	0.47106	0.89	B	0.36534	0.227	D	0.84370	0.0543	10	0.48119	T	0.1	-20.3882	20.1278	0.97990	0.0:1.0:0.0:0.0	.	957	Q96F81	DISP1_HUMAN	L	957	ENSP00000284476:S957L	ENSP00000284476:S957L	S	+	2	0	DISP1	221244232	0.192000	0.23301	0.038000	0.18304	0.950000	0.60333	2.700000	0.47085	2.768000	0.95171	0.561000	0.74099	TCG	DISP1	-	NULL	ENSG00000154309		0.502	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	94	0.00	0	C	NM_032890		223177609	223177609	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	60	36.84	35	SNP	0.034	T
FLNA	2316	genome.wustl.edu	37	X	153593204	153593204	+	Missense_Mutation	SNP	C	C	T	rs201093148		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chrX:153593204C>T	ENST00000369850.3	-	12	2049	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	FLNA_ENST00000360319.4_Missense_Mutation_p.D605N|FLNA_ENST00000422373.1_Missense_Mutation_p.D605N|FLNA_ENST00000344736.4_Missense_Mutation_p.D605N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	605					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCCCACGTCGTCCCCGATA	0.662													C|||	4	0.0010596	0.0	0.0058	3775	,	,		13292	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													116.0	132.0	127.0					X																	153593204		2168	4231	6399	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1813G>A	X.37:g.153593204C>T	ENSP00000358866:p.Asp605Asn		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D605N	ENST00000369850.3	37	c.1813	CCDS48194.1	X	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.88	2.368058	0.42003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91996	-2.86;-2.86;-2.95;-2.95	4.43	4.43	0.53597	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.074646	0.50627	U	0.000111	D	0.90414	0.6999	L	0.56769	1.78	0.80722	D	1	B;B	0.19706	0.038;0.024	B;B	0.18263	0.012;0.021	D	0.88432	0.3036	10	0.56958	D	0.05	.	16.4256	0.83813	0.0:1.0:0.0:0.0	.	605;605	P21333-2;P21333	.;FLNA_HUMAN	N	605;578;605;605;605	ENSP00000353467:D605N;ENSP00000416926:D605N;ENSP00000358866:D605N;ENSP00000358863:D605N	ENSP00000358863:D605N	D	-	1	0	FLNA	153246398	0.999000	0.42202	0.989000	0.46669	0.979000	0.70002	3.963000	0.56773	1.783000	0.52377	0.525000	0.51046	GAC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.662	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	23	0.00	0	C			153593204	153593204	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.993	T
FYCO1	79443	genome.wustl.edu	37	3	46008081	46008081	+	Silent	SNP	C	C	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr3:46008081C>T	ENST00000296137.2	-	8	2950	c.2745G>A	c.(2743-2745)ctG>ctA	p.L915L	FYCO1_ENST00000535325.1_Silent_p.L915L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	915					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTCCACGGTCAGTGCGCAAA	0.642																																						dbGAP											0													51.0	49.0	50.0					3																	46008081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2745G>A	3.37:g.46008081C>T			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.L915	ENST00000296137.2	37	c.2745	CCDS2734.1	3																																																																																			FYCO1	-	NULL	ENSG00000163820		0.642	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	55	0.00	0	C	NM_024513		46008081	46008081	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.986	T
GBP6	163351	genome.wustl.edu	37	1	89849788	89849788	+	Silent	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr1:89849788G>A	ENST00000370456.4	+	10	1698	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q	GBP6_ENST00000535065.1_Silent_p.Q405Q	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	535					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGAAGCTGCAGATGGAGAGAG	0.498																																						dbGAP											0													105.0	91.0	96.0					1																	89849788		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1605G>A	1.37:g.89849788G>A			A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.Q535	ENST00000370456.4	37	c.1605	CCDS723.1	1																																																																																			GBP6	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000183347		0.498	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	153	0.00	0	G	NM_198460		89849788	89849788	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	silent	66	16.46	13	SNP	0.015	A
GPR125	166647	genome.wustl.edu	37	4	22440036	22440036	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr4:22440036T>A	ENST00000334304.5	-	8	1197	c.928A>T	c.(928-930)Acc>Tcc	p.T310S	GPR125_ENST00000508133.1_Missense_Mutation_p.T84S|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.T310S	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	310	Ig-like.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTAGAAATGGTTAGGGCACTG	0.348																																						dbGAP											0													56.0	50.0	52.0					4																	22440036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.928A>T	4.37:g.22440036T>A	ENSP00000334952:p.Thr310Ser		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.T310S	ENST00000334304.5	37	c.928	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222176	0.79464	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482;ENST00000514129	T;T;T;T	0.69435	-0.4;-0.4;-0.4;0.9	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	P;P;D;D	0.71674	0.843;0.589;0.996;0.998	P;B;D;D	0.74674	0.628;0.343;0.98;0.984	T	0.78788	-0.2067	10	0.51188	T	0.08	-34.5455	16.1637	0.81739	0.0:0.0:0.0:1.0	.	185;310;84;310	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	S	310;84;310;46	ENSP00000334952:T310S;ENSP00000422606:T84S;ENSP00000421006:T310S;ENSP00000425223:T46S	ENSP00000334952:T310S	T	-	1	0	GPR125	22049134	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.649000	0.83500	2.216000	0.71823	0.533000	0.62120	ACC	GPR125	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000152990		0.348	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	223	0.00	0	T			22440036	22440036	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63958635	63958635	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr15:63958635G>A	ENST00000443617.2	-	41	8330	c.8243C>T	c.(8242-8244)cCt>cTt	p.P2748L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2748					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGAGGAGGAGGAGAAGTTGA	0.428																																						dbGAP											0													105.0	100.0	102.0					15																	63958635		1861	4102	5963	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8243C>T	15.37:g.63958635G>A	ENSP00000390158:p.Pro2748Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P2748L	ENST00000443617.2	37	c.8243	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.173958	0.94807	.	.	ENSG00000103657	ENST00000443617	T	0.23754	1.89	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.39522	-0.9610	10	0.66056	D	0.02	.	19.4859	0.95028	0.0:0.0:1.0:0.0	.	2748	Q15751	HERC1_HUMAN	L	2748	ENSP00000390158:P2748L	ENSP00000390158:P2748L	P	-	2	0	HERC1	61745688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.567000	0.98161	2.680000	0.91292	0.655000	0.94253	CCT	HERC1	-	superfamily_UBA-like	ENSG00000103657		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	156	0.00	0	G	NM_003922		63958635	63958635	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	61	36.46	35	SNP	1.000	A
HERC2P4	100289574	genome.wustl.edu	37	16	32163575	32163575	+	IGR	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr16:32163575G>A								RP11-1166P10.6 (67469 upstream) : HERC2P4 (17729 downstream)																							AGGCACAGGCGACCATCGATG	0.582																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.32163575G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.582					HERC2P4	HGNC			42	0.00	0	G			32163575	32163575	-1	no_errors	ENST00000563904	ensembl	human	known	69_37n	rna	13	59.38	19	SNP	1.000	A
IL27RA	9466	genome.wustl.edu	37	19	14143204	14143204	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr19:14143204C>G	ENST00000263379.2	+	2	232	c.107C>G	c.(106-108)gCc>gGc	p.A36G	CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	36					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCAGGCAGCGCCGGGCCACTG	0.627																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											0													73.0	80.0	77.0					19																	14143204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.107C>G	19.37:g.14143204C>G	ENSP00000263379:p.Ala36Gly		A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A36G	ENST00000263379.2	37	c.107	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941267	0.34283	.	.	ENSG00000104998	ENST00000263379	T	0.62232	0.04	3.82	0.273	0.15650	.	1.066870	0.07479	N	0.903536	T	0.39886	0.1095	N	0.14661	0.345	0.09310	N	1	B	0.33694	0.421	B	0.24006	0.05	T	0.30001	-0.9993	10	0.72032	D	0.01	-3.6912	6.7775	0.23628	0.0:0.6465:0.0:0.3535	.	36	Q6UWB1	I27RA_HUMAN	G	36	ENSP00000263379:A36G	ENSP00000263379:A36G	A	+	2	0	IL27RA	14004204	0.000000	0.05858	0.001000	0.08648	0.897000	0.52465	-0.030000	0.12308	0.218000	0.20820	-0.339000	0.08088	GCC	IL27RA	-	NULL	ENSG00000104998		0.627	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	52	0.00	0	C	NM_004843		14143204	14143204	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.000	G
MED23	9439	genome.wustl.edu	37	6	131908938	131908938	+	Nonsense_Mutation	SNP	G	G	A	rs527236036		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr6:131908938G>A	ENST00000368068.3	-	29	4167	c.3988C>T	c.(3988-3990)Cga>Tga	p.R1330*	MED23_ENST00000368058.1_Nonsense_Mutation_p.R1336*|MED23_ENST00000354577.4_Nonsense_Mutation_p.R1336*|MED23_ENST00000545957.1_Nonsense_Mutation_p.R971*|MED23_ENST00000368060.3_Nonsense_Mutation_p.R1330*|MED23_ENST00000403834.3_Nonsense_Mutation_p.R1336*|MED23_ENST00000479213.1_5'UTR	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1330					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTGATGAATCGAAGACGAAGT	0.413																																						dbGAP											0													115.0	103.0	107.0					6																	131908938		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3988C>T	6.37:g.131908938G>A	ENSP00000357047:p.Arg1330*		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	pfam_Mediator_Med23	p.R1336*	ENST00000368068.3	37	c.4006	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	40	7.951086	0.98577	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9723	16.4798	0.84155	0.0:0.0:0.8684:0.1316	.	.	.	.	X	1336;1330;1336;1330;1336;971	.	ENSP00000346588:R1336X	R	-	1	2	MED23	131950631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.164000	0.77533	2.813000	0.96785	0.655000	0.94253	CGA	MED23	-	NULL	ENSG00000112282		0.413	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	179	0.56	1	G			131908938	131908938	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	nonsense	82	21.15	22	SNP	1.000	A
RASSF3	283349	genome.wustl.edu	37	12	65016369	65016370	+	Intron	INS	-	-	C			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr12:65016369_65016370insC	ENST00000542104.1	+	1	231				RASSF3_ENST00000336061.2_Intron|MIR548C_ENST00000384815.1_RNA	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		aattacttttgcaccaacttaa	0.337																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.111+11846->C	12.37:g.65016370_65016370dupC			Q86WH1	RNA	INS	-	NULL	ENST00000542104.1	37	NULL	CCDS8969.1	12																																																																																			MIR548C	-	-	ENSG00000207546		0.337	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548C	HGNC	protein_coding	OTTHUMT00000401161.1	23	0.00	0	-			65016369	65016370	+1	no_errors	ENST00000384815	ensembl	human	known	69_37n	rna	4	42.86	3	INS	0.001:0.000	C
OR10A3	26496	genome.wustl.edu	37	11	7960264	7960264	+	Silent	SNP	G	G	A			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr11:7960264G>A	ENST00000360759.3	-	1	877	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTTGGTTTCGGGTGAGTAGC	0.458																																						dbGAP											0													194.0	176.0	182.0					11																	7960264		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.804C>T	11.37:g.7960264G>A			B9EH39|Q6IF58|Q96R11	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P268	ENST00000360759.3	37	c.804	CCDS31421.1	11																																																																																			OR10A3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170683		0.458	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1	286	0.69	2	G	NM_001003745		7960264	7960264	-1	no_errors	ENST00000360759	ensembl	human	known	69_37n	silent	221	18.98	52	SNP	0.800	A
PDZD2	23037	genome.wustl.edu	37	5	32088972	32088972	+	Silent	SNP	T	T	C			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr5:32088972T>C	ENST00000438447.1	+	20	5806	c.5418T>C	c.(5416-5418)aaT>aaC	p.N1806N	PDZD2_ENST00000282493.3_Silent_p.N1806N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1806					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGAAATAAATAAACATAACC	0.438																																						dbGAP											0													82.0	87.0	86.0					5																	32088972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5418T>C	5.37:g.32088972T>C			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N1806	ENST00000438447.1	37	c.5418	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.438	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	143	0.00	0	T			32088972	32088972	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	silent	82	37.40	49	SNP	0.007	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	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	133	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	53	39.77	35	SNP	1.000	A
P2RY11	5032	genome.wustl.edu	37	19	10224677	10224677	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr19:10224677G>T	ENST00000321826.4	+	2	572	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G550C|PPAN_ENST00000556468.1_Missense_Mutation_p.G550C|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	130					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCGCTACCTGGGCATCGTGCA	0.682											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													81.0	72.0	75.0					19																	10224677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.388G>T	19.37:g.10224677G>T	ENSP00000323872:p.Gly130Cys	663	B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam	p.G550C	ENST00000321826.4	37	c.1648	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859239	0.91433	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.37235	1.21;1.21;1.21	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.075779	0.51477	U	0.000084	T	0.64294	0.2585	M	0.85462	2.755	0.48040	D	0.999577	D	0.89917	1.0	D	0.77004	0.989	T	0.70710	-0.4797	10	0.62326	D	0.03	-11.7976	16.3883	0.83523	0.0:0.0:1.0:0.0	.	130	Q96G91	P2Y11_HUMAN	C	550;550;130	ENSP00000377385:G550C;ENSP00000450710:G550C;ENSP00000323872:G130C	ENSP00000323872:G130C	G	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10085677	1.000000	0.71417	0.914000	0.36105	0.858000	0.48976	5.407000	0.66363	2.411000	0.81874	0.561000	0.74099	GGC	PPAN-P2RY11	-	pfam_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000243207		0.682	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316664.2	26	0.00	0	G	NM_002566		10224677	10224677	+1	no_errors	ENST00000393796	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	1.000	T
PRAMEF7	441871	genome.wustl.edu	37	1	12980232	12980232	+	Silent	SNP	G	G	A	rs201674075		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	0					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGTTGAATGCCTGCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1424G>A	1.37:g.12980232G>A			B9EIP0	Silent	SNP	NULL	p.*475	ENST00000361079.2	37	c.1424	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.532	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		39	0.00	0	G	NM_001012277		12980232	12980232	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.000	A
PTGDR	5729	genome.wustl.edu	37	14	52741544	52741544	+	Silent	SNP	G	G	C			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr14:52741544G>C	ENST00000306051.2	+	2	1044	c.942G>C	c.(940-942)gtG>gtC	p.V314V	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	314					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TTCTATCTGTGATTTCAATTG	0.403																																						dbGAP											0													94.0	87.0	89.0					14																	52741544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.942G>C	14.37:g.52741544G>C			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.V314	ENST00000306051.2	37	c.942	CCDS9707.1	14																																																																																			PTGDR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt	ENSG00000168229		0.403	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	114	0.00	0	G	NM_000953		52741544	52741544	+1	no_errors	ENST00000306051	ensembl	human	known	69_37n	silent	58	37.63	35	SNP	0.998	C
RAPGEF4	11069	genome.wustl.edu	37	2	173900899	173900900	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr2:173900899_173900900insG	ENST00000397081.3	+	28	2890_2891	c.2747_2748insG	c.(2746-2751)ctggaafs	p.E917fs	RAPGEF4_ENST00000264111.6_Frame_Shift_Ins_p.E916fs|RAPGEF4_ENST00000538974.1_Frame_Shift_Ins_p.E746fs|RAPGEF4_ENST00000539331.1_Frame_Shift_Ins_p.E764fs|RAPGEF4_ENST00000397087.3_Frame_Shift_Ins_p.E773fs|RAPGEF4_ENST00000540783.1_Frame_Shift_Ins_p.E764fs|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Frame_Shift_Ins_p.E697fs	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	917	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTAGCTAAGCTGGAACCTCCTC	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2749dupG	2.37:g.173900901_173900901dupG	ENSP00000380271:p.Glu917fs		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Frame_Shift_Ins	INS	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.E917fs	ENST00000397081.3	37	c.2747_2748	CCDS42775.1	2																																																																																			RAPGEF4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000091428		0.475	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	274	0.00	0	-	NM_007023		173900899	173900900	+1	no_errors	ENST00000397081	ensembl	human	known	69_37n	frame_shift_ins	193	11.06	24	INS	1.000:1.000	G
RC3H1	149041	genome.wustl.edu	37	1	173939653	173939653	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr1:173939653C>T	ENST00000367696.2	-	9	1675	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	RNA5SP68_ENST00000363885.1_RNA|RC3H1_ENST00000367694.2_Missense_Mutation_p.E442K|RC3H1_ENST00000258349.4_Missense_Mutation_p.E442K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	442					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTTTCCAGTTCCTCCTGTGAG	0.433																																						dbGAP											0													197.0	190.0	193.0					1																	173939653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1324G>A	1.37:g.173939653C>T	ENSP00000356669:p.Glu442Lys		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.E442K	ENST00000367696.2	37	c.1324	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238362	0.95240	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.64085	-0.08;-0.08;-0.07	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.65815	0.961;0.978;0.977;0.995	B;P;P;P	0.57620	0.393;0.492;0.597;0.824	T	0.76274	-0.3019	10	0.87932	D	0	-19.9318	15.9701	0.80008	0.136:0.864:0.0:0.0	.	442;442;442;442	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	K	442	ENSP00000356669:E442K;ENSP00000258349:E442K;ENSP00000356667:E442K	ENSP00000258349:E442K	E	-	1	0	RC3H1	172206276	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.783000	0.85696	1.380000	0.46344	0.563000	0.77884	GAA	RC3H1	-	NULL	ENSG00000135870		0.433	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	228	0.00	0	C	NM_172071		173939653	173939653	-1	no_errors	ENST00000258349	ensembl	human	known	69_37n	missense	103	56.72	135	SNP	1.000	T
SH3PXD2A	9644	genome.wustl.edu	37	10	105363029	105363029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr10:105363029G>T	ENST00000369774.4	-	15	2222	c.1946C>A	c.(1945-1947)tCg>tAg	p.S649*	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.S516*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.S484*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.S621*|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	649	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CAGGGACAGCGAGGAGCTGCC	0.582																																						dbGAP											0													100.0	121.0	114.0					10																	105363029		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1946C>A	10.37:g.105363029G>T	ENSP00000358789:p.Ser649*		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.S649*	ENST00000369774.4	37	c.1946		10	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158592	0.38119	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.	.	.	5.42	3.21	0.36854	.	0.642665	0.17056	N	0.188737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-2.8769	10.3336	0.43837	0.2349:0.0:0.7651:0.0	.	.	.	.	X	649;621;456;564;516;484	.	ENSP00000318135:S456X	S	-	2	0	SH3PXD2A	105353019	0.996000	0.38824	0.818000	0.32626	0.278000	0.26855	2.551000	0.45820	1.288000	0.44600	0.561000	0.74099	TCG	SH3PXD2A	-	NULL	ENSG00000107957		0.582	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	74	0.00	0	G	NM_014631		105363029	105363029	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	nonsense	72	10.00	8	SNP	0.144	T
SPEG	10290	genome.wustl.edu	37	2	220354586	220354586	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr2:220354586C>T	ENST00000312358.7	+	36	8978	c.8846C>T	c.(8845-8847)tCt>tTt	p.S2949F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2949	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGAAGCTCTCCCAGGCCT	0.647																																						dbGAP											0													32.0	35.0	34.0					2																	220354586		1885	4122	6007	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8846C>T	2.37:g.220354586C>T	ENSP00000311684:p.Ser2949Phe		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S2949F	ENST00000312358.7	37	c.8846	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780637	0.02929	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66099	-0.19	4.32	3.43	0.39272	.	0.189547	0.26013	N	0.026871	T	0.44095	0.1277	N	0.14661	0.345	0.80722	D	1	B	0.27068	0.167	B	0.19148	0.024	T	0.41998	-0.9477	10	0.54805	T	0.06	.	13.878	0.63665	0.0:0.8457:0.1543:0.0	.	2949	Q15772	SPEG_HUMAN	F	2949	ENSP00000311684:S2949F	ENSP00000265327:S2949F	S	+	2	0	SPEG	220062830	0.005000	0.15991	0.087000	0.20705	0.086000	0.17979	1.517000	0.35867	1.032000	0.39892	-0.311000	0.09066	TCT	SPEG	-	NULL	ENSG00000072195		0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	17	0.00	0	C	NM_005876		220354586	220354586	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	4	55.56	5	SNP	0.990	T
TBC1D3B	414059	genome.wustl.edu	37	17	34493597	34493597	+	Silent	SNP	C	C	T			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr17:34493597C>T	ENST00000454519.3	-	14	1577	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Silent_p.Q476Q	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	476						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGCAGCTCTGTCTGAAAT	0.627																																						dbGAP											0													1.0	1.0	1.0					17																	34493597		58	193	251	-	-	-	SO:0001819	synonymous_variant	0			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.1428G>A	17.37:g.34493597C>T			A8K892	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q476	ENST00000454519.3	37	c.1428	CCDS42300.1	17																																																																																			TBC1D3B	-	NULL	ENSG00000224226		0.627	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D3B	HGNC	protein_coding	OTTHUMT00000256087.3	24	0.00	0	C	NM_001001417		34493597	34493597	-1	no_errors	ENST00000398801	ensembl	human	known	69_37n	silent	34	29.17	14	SNP	0.127	T
UGT2B7	7364	genome.wustl.edu	37	4	69973882	69973882	+	Silent	SNP	C	C	T	rs200100430		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr4:69973882C>T	ENST00000305231.7	+	5	1198	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	384					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACGAGGCAATCTACCATGGGA	0.453																																						dbGAP											0													144.0	139.0	140.0					4																	69973882		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1152C>T	4.37:g.69973882C>T			B2R810|Q6GTW0	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.I384	ENST00000305231.7	37	c.1152	CCDS3526.1	4																																																																																			UGT2B7	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000171234		0.453	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000251560.1	283	0.00	0	C	NM_001074		69973882	69973882	+1	no_errors	ENST00000305231	ensembl	human	known	69_37n	silent	146	15.12	26	SNP	1.000	T
TRPC3	7222	genome.wustl.edu	37	4	122853579	122853579	+	Silent	SNP	G	G	A	rs200018915		TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr4:122853579G>A	ENST00000379645.3	-	2	907	c.834C>T	c.(832-834)caC>caT	p.H278H	TRPC3_ENST00000264811.5_Silent_p.H205H|TRPC3_ENST00000513531.1_Silent_p.H205H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	193					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.H205H(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGAAGGAGTCGTGCCTCTGCT	0.602																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											50.0	45.0	46.0					4																	122853579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.834C>T	4.37:g.122853579G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.H278	ENST00000379645.3	37	c.834	CCDS47130.1	4																																																																																			TRPC3	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000138741		0.602	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	34	0.00	0	G	NM_003305		122853579	122853579	-1	no_errors	ENST00000379645	ensembl	human	known	69_37n	silent	28	22.22	8	SNP	0.989	A
ZSCAN5C	649137	genome.wustl.edu	37	19	56720191	56720191	+	Silent	SNP	A	A	G			TCGA-A8-A08B-01A-11W-A019-09	TCGA-A8-A08B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	267a951b-29b7-4849-9ea7-d2205838fcc7	ae64a42d-572d-46be-8392-f04ec3ab5bf9	g.chr19:56720191A>G	ENST00000534327.1	+	5	1262	c.1113A>G	c.(1111-1113)ttA>ttG	p.L371L	ZSCAN5C_ENST00000376267.1_Silent_p.L371L			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	371					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|lung(6)|stomach(1)	8						GCGGCAAGTTAGCCGTCCACA	0.557																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	ENST00000534327.1:c.1113A>G	19.37:g.56720191A>G				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L371	ENST00000534327.1	37	c.1113		19																																																																																			ZSCAN5C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204532		0.557	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ZSCAN5C	HGNC	protein_coding	OTTHUMT00000394739.1	67	0.00	0	A	XM_001131980		56720191	56720191	+1	no_errors	ENST00000376267	ensembl	human	known	69_37n	silent	77	10.47	9	SNP	0.000	G
