#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
FYB	2533	genome.wustl.edu	37	5	39119670	39119670	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:39119670T>G	ENST00000351578.6	-	14	2257	c.2067A>C	c.(2065-2067)gaA>gaC	p.E689D	FYB_ENST00000512982.1_Missense_Mutation_p.E735D|FYB_ENST00000540520.1_Missense_Mutation_p.E745D|FYB_ENST00000515010.1_Missense_Mutation_p.E689D|FYB_ENST00000505428.1_Missense_Mutation_p.E735D	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	689					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTCTTCTTTTTCCTGCTTTT	0.294													ENSG00000082074																																					0													58.0	41.0	46.0					5																	39119670		1771	4021	5792	SO:0001583	missense	0			-	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2067A>C	5.37:g.39119670T>G	ENSP00000316460:p.Glu689Asp		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.E745D	ENST00000351578.6	37	c.2235	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804116	0.70682	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.29142	1.59;1.59;1.58;1.58;1.59	4.91	3.75	0.43078	Src homology-3 domain (1);	0.365246	0.33419	N	0.004928	T	0.54631	0.1870	M	0.85859	2.78	0.39685	D	0.970968	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.58896	-0.7555	10	0.66056	D	0.02	-7.7507	8.2145	0.31503	0.0:0.0925:0.0:0.9075	.	745;689	B4DLN2;O15117	.;FYB_HUMAN	D	689;689;735;735;745;735	ENSP00000316460:E689D;ENSP00000426346:E689D;ENSP00000425845:E735D;ENSP00000427114:E735D;ENSP00000442840:E745D	ENSP00000316460:E689D	E	-	3	2	FYB	39155427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.771000	0.38542	0.844000	0.35094	0.477000	0.44152	GAA	-	FYB	-	superfamily_SH3_domain		0.294	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	0	0	0	49	49	37	0.00	0.00	T	NM_001465		39119670	-1	32	31	48	35	tier1	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	40.00	46.97	SNP	1.000	G	32	48
RYR2	6262	genome.wustl.edu	37	1	237863631	237863631	+	Silent	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:237863631G>A	ENST00000366574.2	+	65	9548	c.9231G>A	c.(9229-9231)caG>caA	p.Q3077Q	RYR2_ENST00000542537.1_Silent_p.Q3061Q|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.Q3075Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3077					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCAAGCAGGGCCAGTTCA	0.493													ENSG00000198626																																					0													46.0	45.0	45.0					1																	237863631		1920	4134	6054	SO:0001819	synonymous_variant	0			-	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9231G>A	1.37:g.237863631G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.Q3075	ENST00000366574.2	37	c.9225	CCDS55691.1	1																																																																																			-	RYR2	-	NULL		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0	0	50	50	128	0.00	0.00	G	NM_001035		237863631	+1	69	50	130	122	tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	34.67	29.07	SNP	1.000	A	69	130
TFDP3	51270	genome.wustl.edu	37	X	132352121	132352121	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:132352121T>A	ENST00000310125.4	-	1	255	c.167A>T	c.(166-168)cAa>cTa	p.Q56L		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	56					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AATTACCACTTGCTGGTCAAT	0.562													ENSG00000183434																																					0													97.0	78.0	85.0					X																	132352121		2203	4300	6503	SO:0001583	missense	0			-	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.167A>T	X.37:g.132352121T>A	ENSP00000385461:p.Gln56Leu		Q6DK49|Q9NZ54	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.Q56L	ENST00000310125.4	37	c.167	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451870	0.26074	.	.	ENSG00000183434	ENST00000310125	T	0.25085	1.82	0.235	0.235	0.15431	.	.	.	.	.	T	0.19805	0.0476	L	0.50333	1.59	0.40965	D	0.984658	B	0.14805	0.011	B	0.15484	0.013	T	0.08186	-1.0734	9	0.56958	D	0.05	.	4.7703	0.13153	0.0:3.0E-4:0.0:0.9997	.	56	Q5H9I0	TFDP3_HUMAN	L	56	ENSP00000385461:Q56L	ENSP00000385461:Q56L	Q	-	2	0	TFDP3	132179787	1.000000	0.71417	0.200000	0.23457	0.201000	0.24016	2.289000	0.43523	0.245000	0.21373	0.242000	0.17961	CAA	-	TFDP3	-	pirsf_Transcrpt_fac_DP		0.562	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	0	0	0	135	135	65	0.00	0.00	T	NM_016521		132352121	-1	102	29	156	48	tier1	no_errors	ENST00000310125	ensembl	human	known	74_37	missense	39.53	37.66	SNP	1.000	A	102	156
FCGR2B	2213	genome.wustl.edu	37	1	161641251	161641251	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161641251C>T	ENST00000358671.5	+	3	284	c.203C>T	c.(202-204)aCt>aTt	p.T68I	RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000236937.9_Missense_Mutation_p.T68I|FCGR2B_ENST00000367960.5_Missense_Mutation_p.T61I|FCGR2B_ENST00000403078.3_Missense_Mutation_p.T68I|FCGR2B_ENST00000367962.4_Missense_Mutation_p.T68I|FCGR2B_ENST00000428605.2_Missense_Mutation_p.T68I|FCGR2B_ENST00000367961.4_Missense_Mutation_p.T61I	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	68	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTCTGTGACTCTGACATGC	0.587			T	?	ALL								ENSG00000072694																												Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	0													104.0	105.0	105.0					1																	161641251		2203	4300	6503	SO:0001583	missense	0			-	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.203C>T	1.37:g.161641251C>T	ENSP00000351497:p.Thr68Ile		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T68I	ENST00000358671.5	37	c.203	CCDS30924.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980603	0.34942	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	4.53	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104565	0.42548	D	0.000690	T	0.31734	0.0806	M	0.87617	2.895	0.39186	D	0.962868	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.989;0.981	T	0.19877	-1.0292	10	0.59425	D	0.04	.	8.5885	0.33672	0.0:0.8909:0.0:0.1091	.	61;68;68;68;68;68	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	I	68;61;68;68;68;61;68;67	ENSP00000356939:T68I;ENSP00000356937:T61I;ENSP00000386038:T68I;ENSP00000404329:T68I;ENSP00000236937:T68I;ENSP00000356938:T61I;ENSP00000351497:T68I	ENSP00000236937:T68I	T	+	2	0	FCGR2B	159907875	0.759000	0.28416	0.749000	0.31150	0.059000	0.15707	1.001000	0.29783	0.896000	0.36366	0.462000	0.41574	ACT	-	FCGR2B	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4	0	0	0	200	200	62	0.00	0.00	C	NM_004001		161641251	+1	59	12	503	77	tier1	no_errors	ENST00000358671	ensembl	human	known	74_37	missense	10.50	13.33	SNP	0.932	T	59	503
ANKEF1	63926	genome.wustl.edu	37	20	10030397	10030397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:10030397G>T	ENST00000378380.3	+	6	1509	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.E394*|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	394							calcium ion binding (GO:0005509)										CAATATTAATGAATTCTTTAA	0.428													ENSG00000132623																																					0													47.0	57.0	54.0					20																	10030397		2194	4297	6491	SO:0001587	stop_gained	0			-	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1180G>T	20.37:g.10030397G>T	ENSP00000367631:p.Glu394*		B3KUQ0|Q9H6Y9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.E394*	ENST00000378380.3	37	c.1180	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.137402	0.98088	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	.	.	.	5.86	5.86	0.93980	.	0.437279	0.30168	N	0.010256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.4872	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	394	.	ENSP00000367631:E394X	E	+	1	0	ANKRD5	9978397	1.000000	0.71417	0.560000	0.28344	0.340000	0.28889	8.794000	0.91867	2.937000	0.99478	0.650000	0.86243	GAA	-	ANKEF1	-	pfscan_Ankyrin_rpt-contain_dom		0.428	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2	0	0	0	37	37	61	0.00	0.00	G	NM_022096		10030397	+1	34	31	52	36	tier1	no_errors	ENST00000378380	ensembl	human	known	74_37	nonsense	39.53	46.27	SNP	0.995	T	34	52
KIAA2018	205717	genome.wustl.edu	37	3	113374951	113374951	+	Missense_Mutation	SNP	G	G	C	rs373048207		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:113374951G>C	ENST00000478658.1	-	5	5595	c.5578C>G	c.(5578-5580)Cca>Gca	p.P1860A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1860A			Q68DE3	K2018_HUMAN	KIAA2018	1860						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCATGAGTTGGGGGACAATTA	0.443													ENSG00000176542																																					0									ALA/PRO	0,3808		0,0,1904	90.0	86.0	87.0		5578	4.1	0.6	3		87	1,8267		0,1,4133	no	missense	KIAA2018	NM_001009899.2	27	0,1,6037	CC,CG,GG		0.0121,0.0,0.0083	possibly-damaging	1860/2246	113374951	1,12075	1904	4134	6038	SO:0001583	missense	0			-	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5578C>G	3.37:g.113374951G>C	ENSP00000420721:p.Pro1860Ala		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P1860A	ENST00000478658.1	37	c.5578	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	g	7.083	0.570558	0.13560	0.0	1.21E-4	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18502	2.21;2.21	5.9	4.12	0.48240	.	0.120605	0.56097	D	0.000028	T	0.09555	0.0235	N	0.17082	0.46	0.39972	D	0.974803	P	0.34864	0.473	B	0.31442	0.13	T	0.22765	-1.0207	10	0.44086	T	0.13	-7.1782	8.0193	0.30400	0.1382:0.1313:0.7306:0.0	.	1860	Q68DE3	K2018_HUMAN	A	1860	ENSP00000320794:P1860A;ENSP00000420721:P1860A	ENSP00000320794:P1860A	P	-	1	0	KIAA2018	114857641	0.999000	0.42202	0.614000	0.29051	0.941000	0.58515	3.091000	0.50199	0.844000	0.35094	-0.141000	0.14075	CCA	-	KIAA2018	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	0	0	0	69	69	76	0.00	0.00	G	NM_001009899		113374951	-1	43	39	69	53	tier1	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	38.39	42.39	SNP	0.940	C	43	69
CYP2E1	1571	genome.wustl.edu	37	10	135350749	135350749	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:135350749C>A	ENST00000463117.2	+	9	1422	c.1150C>A	c.(1150-1152)Ccc>Acc	p.P384T	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.P384T			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	384					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.P384S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATACCTCATCCCCAAGGTTAA	0.562									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				ENSG00000130649																																					1	Substitution - Missense(1)	prostate(1)											163.0	110.0	128.0					10																	135350749		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1150C>A	10.37:g.135350749C>A	ENSP00000440689:p.Pro384Thr		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P384T	ENST00000463117.2	37	c.1150	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210564	0.58343	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;D	0.86956	4.32;4.32;1.94;-2.19	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94306	3.52	0.46874	D	0.99923	D;D	0.76494	0.999;0.993	D;D	0.76575	0.988;0.91	D	0.96142	0.9101	10	0.87932	D	0	.	15.8859	0.79247	0.0:1.0:0.0:0.0	.	280;384	Q59EW1;P05181	.;CP2E1_HUMAN	T	384;384;297;247	ENSP00000440689:P384T;ENSP00000252945:P384T;ENSP00000412754:P297T;ENSP00000397299:P247T	ENSP00000252945:P384T	P	+	1	0	CYP2E1	135200739	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	6.912000	0.75753	2.689000	0.91719	0.650000	0.86243	CCC	-	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.562	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	0	0	0	40	40	101	0.00	0.00	C	NM_000773		135350749	+1	50	57	15	22	tier1	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	76.92	72.15	SNP	1.000	A	50	15
CXCR2P1	3580	genome.wustl.edu	37	2	218924727	218924727	+	RNA	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:218924727T>G	ENST00000439871.1	-	0	1653					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		atgattttctttcttctgaca	0.443													ENSG00000229754																																					0																																												0			-	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218924727T>G				R	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			-	CXCR2P1	-	-		0.443	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	0	0	0	14	14	60	0.00	0.00	T	NR_002712		218924727	-1	7	28	16	29	tier1	no_errors	ENST00000439871	ensembl	human	known	74_37	rna	30.43	49.12	SNP	0.000	G	7	16
PRKCD	5580	genome.wustl.edu	37	3	53218939	53218939	+	Silent	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:53218939C>T	ENST00000394729.2	+	9	1165	c.837C>T	c.(835-837)ctC>ctT	p.L279L	PRKCD_ENST00000330452.3_Silent_p.L279L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	279					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TGGCCAACCTCTGCGGCATCA	0.612													ENSG00000163932																																					0													84.0	80.0	81.0					3																	53218939		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.837C>T	3.37:g.53218939C>T			B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.L279	ENST00000394729.2	37	c.837	CCDS2870.1	3																																																																																			-	PRKCD	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.612	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	0	0	0	34	34	49	0.00	0.00	C			53218939	+1	37	24	40	20	tier1	no_errors	ENST00000330452	ensembl	human	known	74_37	silent	48.05	54.55	SNP	1.000	T	37	40
TFPI	7035	genome.wustl.edu	37	2	188349667	188349667	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:188349667C>T	ENST00000233156.3	-	5	700	c.406G>A	c.(406-408)Ggt>Agt	p.G136S	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.G136S|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.G136S|TFPI_ENST00000409676.1_Missense_Mutation_p.G136S	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	136	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond.			blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	GTAATATAACCTCGACATATT	0.328													ENSG00000003436																																					0													76.0	76.0	76.0					2																	188349667		2202	4296	6498	SO:0001583	missense	0			-		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.406G>A	2.37:g.188349667C>T	ENSP00000233156:p.Gly136Ser		O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.G136S	ENST00000233156.3	37	c.406	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841281	0.91197	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.62	5.62	0.85841	Proteinase inhibitor I2, Kunitz metazoa (5);	0.217986	0.47852	D	0.000213	T	0.69628	0.3132	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.977	D;D	0.70716	0.97;0.951	T	0.69224	-0.5201	10	0.49607	T	0.09	.	16.7965	0.85603	0.0:1.0:0.0:0.0	.	136;136	P10646-2;P10646	.;TFPI1_HUMAN	S	136;136;136;123;136;136	ENSP00000376172:G136S;ENSP00000233156:G136S;ENSP00000397248:G136S;ENSP00000409177:G123S;ENSP00000386344:G136S;ENSP00000342306:G136S	ENSP00000233156:G136S	G	-	1	0	TFPI	188057912	0.594000	0.26849	0.991000	0.47740	0.974000	0.67602	4.110000	0.57831	2.638000	0.89438	0.585000	0.79938	GGT	-	TFPI	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m		0.328	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	0	0	0	71	71	98	0.00	0.00	C	NM_006287		188349667	-1	72	61	75	65	tier1	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	48.98	48.41	SNP	1.000	T	72	75
AEBP1	165	genome.wustl.edu	37	7	44153323	44153323	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:44153323C>A	ENST00000223357.3	+	21	3245	c.2940C>A	c.(2938-2940)ttC>ttA	p.F980L	AEBP1_ENST00000450684.2_Missense_Mutation_p.F555L|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	980	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGTGCAACTTCATCCTGGCTC	0.622													ENSG00000106624																																					0													121.0	112.0	115.0					7																	44153323		2203	4300	6503	SO:0001583	missense	0			-	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2940C>A	7.37:g.44153323C>A	ENSP00000223357:p.Phe980Leu		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.F980L	ENST00000223357.3	37	c.2940	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772788	0.69992	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.15139	2.45;2.45	4.98	2.07	0.26955	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.86805	2.84	0.49915	D	0.999839	D;D	0.76494	0.99;0.999	D;D	0.91635	0.979;0.999	T	0.23655	-1.0182	10	0.72032	D	0.01	-28.2859	8.0838	0.30760	0.0:0.6633:0.0:0.3367	.	555;980	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	L	980;555	ENSP00000223357:F980L;ENSP00000398878:F555L	ENSP00000223357:F980L	F	+	3	2	AEBP1	44119848	0.083000	0.21467	0.867000	0.34043	0.727000	0.41649	0.585000	0.23879	0.216000	0.20781	-0.259000	0.10710	TTC	-	AEBP1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	0	0	1	53	53	57	0.00	1.72	C	NM_001129		44153323	+1	52	23	52	22	tier1	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	50.00	50.00	SNP	0.997	A	52	52
C20orf194	25943	genome.wustl.edu	37	20	3276587	3276587	+	Intron	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:3276587C>T	ENST00000252032.9	-	23	2086				C20orf194_ENST00000453730.2_Intron|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCCCTGTCTCTGTGATGTTG	0.463													ENSG00000088854																																					0																																										SO:0001627	intron_variant	0			-	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2018+920G>A	20.37:g.3276587C>T			Q66K86|Q6P2R9|Q9UFX9	R	SNP	-	NULL	ENST00000252032.9	37	NULL	CCDS42851.1	20																																																																																			-	C20orf194	-	-		0.463	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	0	0	0	12	12	37	0.00	0.00	C	NM_001009984		3276587	-1	12	15	15	26	tier1	no_errors	ENST00000498079	ensembl	human	known	74_37	rna	44.44	36.59	SNP	0.016	T	12	15
PTGS2	5743	genome.wustl.edu	37	1	186648506	186648506	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:186648506C>A	ENST00000367468.5	-	2	253	c.117G>T	c.(115-117)caG>caT	p.Q39H	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	39	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CGCACTTATACTGGTCAAATC	0.443													ENSG00000073756																																					0													124.0	105.0	112.0					1																	186648506		2203	4300	6503	SO:0001583	missense	0			-	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.117G>T	1.37:g.186648506C>A	ENSP00000356438:p.Gln39His		A8K802|Q16876	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q39H	ENST00000367468.5	37	c.117	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	9.191	1.025913	0.19512	.	.	ENSG00000073756	ENST00000367468	T	0.63580	-0.05	5.27	1.82	0.25136	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.394577	0.30142	N	0.010313	T	0.39572	0.1083	N	0.16066	0.365	0.31130	N	0.707851	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.25751	T	0.34	-4.1821	8.9122	0.35559	0.0:0.6139:0.1109:0.2752	.	39	P35354	PGH2_HUMAN	H	39	ENSP00000356438:Q39H	ENSP00000356438:Q39H	Q	-	3	2	PTGS2	184915129	0.000000	0.05858	0.901000	0.35422	0.849000	0.48306	-0.509000	0.06336	0.213000	0.20722	-0.797000	0.03246	CAG	-	PTGS2	-	pfscan_EG-like_dom		0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	0	0	0	35	35	136	0.00	0.00	C	NM_000963		186648506	-1	38	77	98	182	tier1	no_errors	ENST00000367468	ensembl	human	known	74_37	missense	27.94	29.73	SNP	0.620	A	38	98
BBS4	585	genome.wustl.edu	37	15	73022025	73022025	+	Splice_Site	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:73022025G>A	ENST00000268057.4	+	10	752	c.711G>A	c.(709-711)aaG>aaA	p.K237K	BBS4_ENST00000539603.1_Splice_Site_p.K225K|BBS4_ENST00000395205.2_Splice_Site_p.K245K|BBS4_ENST00000542334.1_Splice_Site_p.K65K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	237	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CCAACTACAAGGTATTACAGG	0.433									Bardet-Biedl syndrome				ENSG00000140463																																					0													154.0	130.0	138.0					15																	73022025		2198	4297	6495	SO:0001630	splice_region_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.711+1G>A	15.37:g.73022025G>A			B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K245	ENST00000268057.4	37	c.735	CCDS10246.1	15																																																																																			-	BBS4	-	pfscan_TPR-contain_dom		0.433	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2	0	0	0	71	71	81	0.00	0.00	G	NM_033028	Silent	73022025	+1	58	37	92	55	tier1	no_errors	ENST00000395205	ensembl	human	known	74_37	silent	38.67	40.22	SNP	1.000	A	58	92
TUBAL3	79861	genome.wustl.edu	37	10	5436364	5436364	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:5436364C>T	ENST00000380419.3	-	4	494	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G113S	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	153					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AACCCTGAACCAGTGCCTCCT	0.473													ENSG00000178462																																					0													62.0	66.0	65.0					10																	5436364		2203	4300	6503	SO:0001583	missense	0			-	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.457G>A	10.37:g.5436364C>T	ENSP00000369784:p.Gly153Ser		B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G153S	ENST00000380419.3	37	c.457	CCDS7066.2	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354182	0.61293	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.96200	-3.94;-3.94	4.55	4.55	0.56014	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47455	D	0.000228	D	0.98346	0.9451	H	0.94503	3.545	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.99490	1.0950	10	0.87932	D	0	.	16.7952	0.85600	0.0:1.0:0.0:0.0	.	113;153	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	S	153;113	ENSP00000369784:G153S;ENSP00000418799:G113S	ENSP00000369784:G153S	G	-	1	0	TUBAL3	5426364	1.000000	0.71417	0.159000	0.22649	0.057000	0.15508	7.624000	0.83124	2.475000	0.83589	0.650000	0.86243	GGT	-	TUBAL3	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.473	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	HGNC	protein_coding	OTTHUMT00000046548.2	0	0	1	29	29	106	0.00	0.93	C	NM_024803		5436364	-1	16	27	57	112	tier1	no_errors	ENST00000380419	ensembl	human	known	74_37	missense	21.92	19.29	SNP	0.996	T	16	57
TRPA1	8989	genome.wustl.edu	37	8	72952031	72952031	+	Splice_Site	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:72952031G>A	ENST00000262209.4	-	18	2270	c.2063C>T	c.(2062-2064)gCa>gTa	p.A688V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	688					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTACCATTGCCTGAGAAAT	0.294													ENSG00000104321																																					0													79.0	82.0	81.0					8																	72952031		2203	4293	6496	SO:0001630	splice_region_variant	0			-	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2062-1C>T	8.37:g.72952031G>A			A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A688V	ENST00000262209.4	37	c.2063	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422120	0.43020	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77620	-1.11;-1.11	5.22	1.01	0.19927	.	0.270118	0.41500	N	0.000862	T	0.64940	0.2644	L	0.46157	1.445	0.31327	N	0.685333	B	0.11235	0.004	B	0.09377	0.004	T	0.54655	-0.8261	10	0.18276	T	0.48	-0.8054	7.7671	0.28986	0.3956:0.0:0.6044:0.0	.	688	O75762	TRPA1_HUMAN	V	540;688	ENSP00000428151:A540V;ENSP00000262209:A688V	ENSP00000262209:A688V	A	-	2	0	TRPA1	73114585	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	1.576000	0.36504	-0.124000	0.11724	0.591000	0.81541	GCA	-	TRPA1	-	NULL		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	0	0	0	28	28	111	0.00	0.00	G	NM_007332	Missense_Mutation	72952031	-1	8	47	24	75	tier1	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	25.00	38.21	SNP	1.000	A	8	24
DENND4A	10260	genome.wustl.edu	37	15	65982790	65982790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:65982790C>T	ENST00000431932.2	-	22	4218	c.4010G>A	c.(4009-4011)tGg>tAg	p.W1337*	DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1380*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCTTGAATACCATTTGCTTGC	0.373													ENSG00000174485																																					0													126.0	115.0	119.0					15																	65982790		2006	4166	6172	SO:0001587	stop_gained	0			-	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4010G>A	15.37:g.65982790C>T	ENSP00000396830:p.Trp1337*		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.W1380*	ENST00000431932.2	37	c.4139	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	45	11.363709	0.99551	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	.	.	.	X	1380;1337	.	ENSP00000396830:W1337X	W	-	2	0	DENND4A	63769844	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.576000	0.86940	0.650000	0.86243	TGG	-	DENND4A	-	NULL		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	0	0	0	154	154	134	0.00	0.00	C	NM_005848		65982790	-1	139	75	184	66	tier1	no_errors	ENST00000443035	ensembl	human	known	74_37	nonsense	43.03	53.19	SNP	1.000	T	139	184
F13B	2165	genome.wustl.edu	37	1	197024914	197024914	+	Missense_Mutation	SNP	A	A	G	rs201427054		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:197024914A>G	ENST00000367412.1	-	8	1328	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	429	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTCAGTAAGTAATATTCATTG	0.428													ENSG00000143278																																					0								A	HIS/TYR	0,4406		0,0,2203	117.0	113.0	114.0		1285	6.0	0.2	1		114	4,8596	3.7+/-12.6	0,4,4296	yes	missense	F13B	NM_001994.2	83	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	429/662	197024914	4,13002	2203	4300	6503	SO:0001583	missense	0			-	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1285T>C	1.37:g.197024914A>G	ENSP00000356382:p.Tyr429His		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y429H	ENST00000367412.1	37	c.1285	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.369001	0.24771	0.0	4.65E-4	ENSG00000143278	ENST00000367412	T	0.71817	-0.6	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.30401	N	0.009709	T	0.69602	0.3129	M	0.73962	2.25	0.23933	N	0.996429	P	0.43578	0.811	B	0.41813	0.367	T	0.68629	-0.5358	10	0.42905	T	0.14	.	8.9332	0.35684	0.9177:0.0:0.0823:0.0	.	429	P05160	F13B_HUMAN	H	429	ENSP00000356382:Y429H	ENSP00000356382:Y429H	Y	-	1	0	F13B	195291537	1.000000	0.71417	0.249000	0.24280	0.007000	0.05969	3.154000	0.50693	2.289000	0.77006	0.482000	0.46254	TAC	rs201427054	F13B	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.428	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	0	0	0	28	28	102	0.00	0.00	A	NM_001994		197024914	-1	26	41	52	79	tier1	no_errors	ENST00000367412	ensembl	human	known	74_37	missense	33.33	34.17	SNP	0.434	G	26	52
AP3B2	8120	genome.wustl.edu	37	15	83328314	83328314	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:83328314A>C	ENST00000261722.3	-	26	3454	c.3247T>G	c.(3247-3249)Tga>Gga	p.*1083G	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonstop_Mutation_p.*1051G|AP3B2_ENST00000535359.1_Nonstop_Mutation_p.*1102G	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	0					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGGAAGTCACTGGGTCAGA	0.527													ENSG00000103723																																					0													104.0	99.0	101.0					15																	83328314		2054	4199	6253	SO:0001578	stop_lost	0			-	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3247T>G	15.37:g.83328314A>C	ENSP00000261722:p.*1083Argext*16		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonstop_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.*1083G	ENST00000261722.3	37	c.3247	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069348	0.55539	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	4.88	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8976	0.52665	0.8538:0.1462:0.0:0.0	.	.	.	.	G	1083;1051;1102	.	.	X	-	1	0	AP3B2	81125369	1.000000	0.71417	0.622000	0.29159	0.762000	0.43233	8.677000	0.91203	0.794000	0.33899	0.379000	0.24179	TGA	-	AP3B2	-	NULL		0.527	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	0	0	1	36	36	75	0.00	1.32	A			83328314	-1	52	40	50	48	tier1	no_errors	ENST00000261722	ensembl	human	known	74_37	nonstop	50.98	44.94	SNP	1.000	C	52	50
RFPL3	10738	genome.wustl.edu	37	22	32754084	32754084	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32754084C>A	ENST00000249007.4	+	1	231	c.26C>A	c.(25-27)aCt>aAt	p.T9N	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_5'Flank|RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	9							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGTCACAACTAACAGGCTT	0.478													ENSG00000128276																																					0													110.0	110.0	110.0					22																	32754084		2203	4299	6502	SO:0001583	missense	0			-	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.26C>A	22.37:g.32754084C>A	ENSP00000249007:p.Thr9Asn		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.T9N	ENST00000249007.4	37	c.26	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172341	0.09391	.	.	ENSG00000128276	ENST00000249007	T	0.52754	0.65	0.586	-1.17	0.09648	.	.	.	.	.	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.09930	-1.0652	8	0.87932	D	0	.	.	.	.	.	9	O75679	RFPL3_HUMAN	N	9	ENSP00000249007:T9N	ENSP00000249007:T9N	T	+	2	0	RFPL3	31084084	0.414000	0.25408	0.002000	0.10522	0.118000	0.20060	0.733000	0.26087	-0.351000	0.08249	0.194000	0.17425	ACT	-	RFPL3	-	NULL		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	0	0	0	121	121	71	0.00	0.00	C	NM_006604		32754084	+1	103	39	149	40	tier1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	40.87	49.37	SNP	0.003	A	103	149
FABP1	2168	genome.wustl.edu	37	2	88423901	88423901	+	Intron	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:88423901G>A	ENST00000295834.3	-	3	432				FABP1_ENST00000393750.3_3'UTR|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver						cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AAGAAGTTTGGGGGTTGGAGG	0.552													ENSG00000163586																																					0																																										SO:0001627	intron_variant	0			-	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.333+111C>T	2.37:g.88423901G>A				R	SNP	-	NULL	ENST00000295834.3	37	NULL	CCDS2001.1	2																																																																																			-	FABP1	-	-		0.552	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	HGNC	protein_coding	OTTHUMT00000252660.1	0	0	0	31	31	60	0.00	0.00	G	NM_001443		88423901	-1	38	42	35	39	tier1	no_errors	ENST00000495375	ensembl	human	known	74_37	rna	52.05	51.85	SNP	0.000	A	38	35
ZCCHC18	644353	genome.wustl.edu	37	X	103360279	103360279	+	3'UTR	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:103360279T>A	ENST00000537356.3	+	0	2891				ZCCHC18_ENST00000422784.1_3'UTR|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										aaggagcatcttttcattaaa	0.373													ENSG00000166707																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.*265T>A	X.37:g.103360279T>A				R	SNP	-	NULL	ENST00000537356.3	37	NULL		X																																																																																			-	ZCCHC18	-	-		0.373	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	0	0	0	64	64	123	0.00	0.00	T	NM_001143978		103360279	+1	67	44	84	91	tier1	no_errors	ENST00000422784	ensembl	human	known	74_37	rna	44.37	32.59	SNP	0.000	A	67	84
LRRIQ3	127255	genome.wustl.edu	37	1	74648303	74648303	+	Silent	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:74648303T>A	ENST00000395089.1	-	2	491	c.492A>T	c.(490-492)atA>atT	p.I164I	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.I164I|LRRIQ3_ENST00000370911.3_Silent_p.I164I			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	164	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTTCTGAATTATTTCTTCAT	0.373													ENSG00000162620																																					0													91.0	91.0	91.0					1																	74648303		2202	4299	6501	SO:0001819	synonymous_variant	0			-	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.492A>T	1.37:g.74648303T>A			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	pfscan_IQ_motif_EF-hand-BS	p.I164	ENST00000395089.1	37	c.492	CCDS41350.1	1																																																																																			-	LRRIQ3	-	NULL		0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	0	0	0	63	63	63	0.00	0.00	T	NM_145258		74648303	-1	55	36	87	43	tier1	no_errors	ENST00000354431	ensembl	human	known	74_37	silent	38.73	45.57	SNP	0.990	A	55	87
NEFM	4741	genome.wustl.edu	37	8	24774755	24774755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:24774755G>T	ENST00000221166.5	+	3	2169	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E463*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E87*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E463*|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	463	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCAAAGTGGAGGATGAGAA	0.443													ENSG00000104722																																					0													74.0	74.0	74.0					8																	24774755		2203	4300	6503	SO:0001587	stop_gained	0			-	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1387G>T	8.37:g.24774755G>T	ENSP00000221166:p.Glu463*		B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I	p.E463*	ENST00000221166.5	37	c.1387	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.110279	0.98070	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8109	0.88616	0.0:0.0:1.0:0.0	.	.	.	.	X	463;463;463;87	.	ENSP00000221166:E463X	E	+	1	0	NEFM	24830660	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.393000	0.97256	2.357000	0.79964	0.467000	0.42956	GAG	-	NEFM	-	NULL		0.443	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	0	0	0	31	31	124	0.00	0.00	G	NM_005382		24774755	+1	30	40	33	73	tier1	no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	47.62	35.40	SNP	1.000	T	30	33
ATRNL1	26033	genome.wustl.edu	37	10	117059564	117059564	+	Silent	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:117059564C>A	ENST00000355044.3	+	16	2562	c.2436C>A	c.(2434-2436)ggC>ggA	p.G812G	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	812	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTGGGTAGGCTTGCGCAAGA	0.403													ENSG00000107518																																					0													113.0	106.0	109.0					10																	117059564		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2436C>A	10.37:g.117059564C>A			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G812	ENST00000355044.3	37	c.2436	CCDS7592.1	10																																																																																			-	ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.403	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	0	0	0	81	81	137	0.00	0.00	C	XM_049349		117059564	+1	68	64	10	19	tier1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	87.18	77.11	SNP	1.000	A	68	10
RAET1K	646024	genome.wustl.edu	37	6	150322718	150322718	+	RNA	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:150322718C>T	ENST00000533735.1	-	0	158					NR_024045.1				retinoic acid early transcript 1K pseudogene																		AAAGGCCTTTCATCCACCAGG	0.438													ENSG00000218358																																					0																																												0			-	AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322718C>T				R	SNP	-	NULL	ENST00000533735.1	37	NULL		6																																																																																			-	RAET1K	-	-		0.438	RAET1K-002	KNOWN	basic	processed_transcript	RAET1K	HGNC	pseudogene	OTTHUMT00000390882.1	0	0	0	124	124	49	0.00	0.00	C			150322718	-1	107	29	133	34	tier1	no_errors	ENST00000533735	ensembl	human	known	74_37	rna	44.58	46.03	SNP	0.000	T	107	133
DLG3	1741	genome.wustl.edu	37	X	69699100	69699100	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:69699100G>T	ENST00000374360.3	+	10	1739	c.1506G>T	c.(1504-1506)agG>agT	p.R502S	DLG3_ENST00000542398.1_Missense_Mutation_p.R19S|DLG3_ENST00000374355.3_Missense_Mutation_p.R165S|DLG3_ENST00000194900.4_Missense_Mutation_p.R520S	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	502					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAAAAGAGGTCCTTGTATG	0.488													ENSG00000082458																																					0													155.0	135.0	142.0					X																	69699100		2203	4300	6503	SO:0001583	missense	0			-	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1506G>T	X.37:g.69699100G>T	ENSP00000363480:p.Arg502Ser		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R520S	ENST00000374360.3	37	c.1560	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819949	0.50633	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.43	4.5	0.54988	Src homology-3 domain (2);	0.000000	0.85682	U	0.000000	D	0.86896	0.6043	M	0.80422	2.495	0.58432	D	0.999999	P;D;P	0.54601	0.599;0.967;0.865	B;P;P	0.52267	0.284;0.694;0.599	D	0.87415	0.2378	9	.	.	.	.	11.85	0.52405	0.1009:0.0:0.8991:0.0	.	19;165;502	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	S	520;502;165;19	ENSP00000194900:R520S;ENSP00000363480:R502S;ENSP00000363475:R165S;ENSP00000441393:R19S	.	R	+	3	2	DLG3	69615825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.224000	0.32539	2.509000	0.84616	0.600000	0.82982	AGG	-	DLG3	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	0	0	0	87	87	127	0.00	0.00	G	NM_021120		69699100	+1	56	63	67	58	tier1	no_errors	ENST00000194900	ensembl	human	known	74_37	missense	45.16	52.07	SNP	1.000	T	56	67
FRMPD3	84443	genome.wustl.edu	37	X	106803532	106803532	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:106803532C>G	ENST00000276185.4	+	10	907	c.907C>G	c.(907-909)Cca>Gca	p.P303A				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	303	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGATCCCAAGCCAGAGATGCT	0.502													ENSG00000147234																																					0													133.0	117.0	122.0					X																	106803532		876	1991	2867	SO:0001583	missense	0			-	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.907C>G	X.37:g.106803532C>G	ENSP00000276185:p.Pro303Ala		Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.P303A	ENST00000276185.4	37	c.907		X	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508156	0.64410	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.77229	-1.08;-1.08	5.16	5.16	0.70880	.	0.063133	0.64402	D	0.000004	T	0.70631	0.3246	L	0.34521	1.04	0.36613	D	0.875345	.	.	.	.	.	.	T	0.68006	-0.5523	8	0.02654	T	1	.	16.676	0.85279	0.0:1.0:0.0:0.0	.	.	.	.	A	303;251	ENSP00000276185:P303A;ENSP00000398668:P251A	ENSP00000276185:P303A	P	+	1	0	FRMPD3	106690188	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.506000	0.60428	2.142000	0.66516	0.529000	0.55759	CCA	-	FRMPD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.502	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		0	0	0	27	27	91	0.00	0.00	C	XM_042978		106803532	+1	25	36	36	59	tier1	no_errors	ENST00000276185	ensembl	human	known	74_37	missense	40.98	37.89	SNP	1.000	G	25	36
STAB2	55576	genome.wustl.edu	37	12	104054498	104054498	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:104054498G>C	ENST00000388887.2	+	17	2030	c.1826G>C	c.(1825-1827)aGg>aCg	p.R609T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCACATCAGGAGCATGGCC	0.483													ENSG00000136011																																					0													212.0	176.0	188.0					12																	104054498		2203	4300	6503	SO:0001583	missense	0			-	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1826G>C	12.37:g.104054498G>C	ENSP00000373539:p.Arg609Thr			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R609T	ENST00000388887.2	37	c.1826	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008163	0.19199	.	.	ENSG00000136011	ENST00000388887	D	0.91124	-2.79	5.63	4.74	0.60224	FAS1 domain (5);	0.292144	0.30959	N	0.008530	T	0.81069	0.4746	L	0.33339	1.005	0.28210	N	0.926989	B	0.29552	0.248	B	0.22152	0.038	T	0.67496	-0.5656	10	0.13108	T	0.6	.	6.4392	0.21841	0.151:0.0:0.7008:0.1482	.	609	Q8WWQ8	STAB2_HUMAN	T	609	ENSP00000373539:R609T	ENSP00000373539:R609T	R	+	2	0	STAB2	102578628	0.611000	0.26992	0.851000	0.33527	0.593000	0.36681	1.493000	0.35605	1.375000	0.46248	0.655000	0.94253	AGG	-	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	0	0	0	75	75	120	0.00	0.00	G			104054498	+1	57	54	74	81	tier1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	43.51	40.00	SNP	0.827	C	57	74
DNHD1	144132	genome.wustl.edu	37	11	6569107	6569107	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:6569107A>G	ENST00000527990.2	+	20	6742	c.6742A>G	c.(6742-6744)Agt>Ggt	p.S2248G	DNHD1_ENST00000254579.6_Missense_Mutation_p.S2248G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2248					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCAGCTATAGTGATCCTGT	0.473													ENSG00000179532																																					0													52.0	45.0	47.0					11																	6569107		692	1591	2283	SO:0001583	missense	0			-	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6742A>G	11.37:g.6569107A>G	ENSP00000436180:p.Ser2248Gly		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE	p.S2248G	ENST00000527990.2	37	c.6742	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054788	0.36277	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.28255	1.62;1.62	5.59	0.147	0.14838	.	1.144020	0.06334	N	0.706740	T	0.22898	0.0553	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.27806	-1.0063	10	0.24483	T	0.36	.	2.7256	0.05213	0.3909:0.0:0.251:0.358	.	2248	Q96M86	DNHD1_HUMAN	G	2248;2248;539	ENSP00000254579:S2248G;ENSP00000436180:S2248G	ENSP00000254579:S2248G	S	+	1	0	DNHD1	6525683	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.368000	0.20399	0.369000	0.24510	0.533000	0.62120	AGT	-	DNHD1	-	NULL		0.473	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	0	0	0	55	55	126	0.00	0.00	A	NM_144666		6569107	+1	29	61	4	13	tier1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	87.88	82.43	SNP	0.000	G	29	4
GIMAP6	474344	genome.wustl.edu	37	7	150325422	150325422	+	Silent	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:150325422C>A	ENST00000328902.5	-	3	480	c.264G>T	c.(262-264)ggG>ggT	p.G88G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	88	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGCTCCTTCCCAGCCCACT	0.592													ENSG00000133561																																					0													113.0	115.0	114.0					7																	150325422		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.264G>T	7.37:g.150325422C>A			C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.G88	ENST00000328902.5	37	c.264	CCDS34778.1	7																																																																																			-	GIMAP6	-	pfam_AIG1,superfamily_P-loop_NTPase		0.592	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	0	0	0	51	51	117	0.00	0.00	C	NM_024711		150325422	-1	45	49	46	64	tier1	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	49.45	43.36	SNP	0.008	A	45	46
EBNA1BP2	10969	genome.wustl.edu	37	1	43637075	43637075	+	Intron	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:43637075C>A	ENST00000236051.2	-	3	465				EBNA1BP2_ENST00000431635.2_Intron|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGTGCAGACTTACTAATTT	0.443													ENSG00000117395																																					0																																										SO:0001627	intron_variant	0			-	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.323+74G>T	1.37:g.43637075C>A			Q96A66	R	SNP	-	NULL	ENST00000236051.2	37	NULL	CCDS478.1	1																																																																																			-	EB1BP2	-	-		0.443	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EB1BP2	HGNC	protein_coding	OTTHUMT00000019015.1	0	0	0	14	14	138	0.00	0.00	C			43637075	-1	16	53	20	51	tier1	no_errors	ENST00000472982	ensembl	human	known	74_37	rna	44.44	50.96	SNP	0.002	A	16	20
PLS3	5358	genome.wustl.edu	37	X	114863597	114863597	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:114863597A>T	ENST00000420625.2	+	4	459	c.325A>T	c.(325-327)Act>Tct	p.T109S	PLS3_ENST00000355899.3_Missense_Mutation_p.T109S|PLS3_ENST00000539310.1_Missense_Mutation_p.T64S|PLS3_ENST00000289290.3_Missense_Mutation_p.T64S|PLS3_ENST00000537301.1_Missense_Mutation_p.T87S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	109	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGGTGGAACTTCAGAGTT	0.383													ENSG00000102024																									Colon(160;1047 1864 8490 12969 29601)												0													131.0	115.0	121.0					X																	114863597		2203	4300	6503	SO:0001583	missense	0			-	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.325A>T	X.37:g.114863597A>T	ENSP00000398945:p.Thr109Ser		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.T109S	ENST00000420625.2	37	c.325	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375447	0.61735	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;D;T;T;T	0.83914	-0.46;-1.78;0.93;-0.46;0.93	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64997	1.995	0.80722	D	1	P;B;B	0.49090	0.919;0.212;0.212	P;B;B	0.51453	0.67;0.094;0.058	D	0.84435	0.0579	10	0.39692	T	0.17	-16.8087	12.4048	0.55432	1.0:0.0:0.0:0.0	.	82;87;109	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	109;87;64;109;64	ENSP00000348163:T109S;ENSP00000445105:T87S;ENSP00000289290:T64S;ENSP00000398945:T109S;ENSP00000445339:T64S	ENSP00000289290:T64S	T	+	1	0	PLS3	114769853	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.116000	0.77119	1.806000	0.52798	0.481000	0.45027	ACT	-	PLS3	-	NULL		0.383	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	0	0	0	53	53	140	0.00	0.00	A			114863597	+1	51	97	67	96	tier1	no_errors	ENST00000355899	ensembl	human	known	74_37	missense	43.22	50.00	SNP	1.000	T	51	67
TSHZ2	128553	genome.wustl.edu	37	20	51870593	51870593	+	Missense_Mutation	SNP	G	G	A	rs139565246	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:51870593G>A	ENST00000371497.5	+	2	1483	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R196Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R196Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	199					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTTGTACCGACAGAGCAGC	0.577													ENSG00000182463																																					0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	58.0	59.0		587,596	5.2	1.0	20	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	196/1032,199/1035	51870593	6,13000	2203	4300	6503	SO:0001583	missense	0			-	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.596G>A	20.37:g.51870593G>A	ENSP00000360552:p.Arg199Gln		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R199Q	ENST00000371497.5	37	c.596	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.338393	0.95783	2.27E-4	5.81E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.24538	1.85;1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50566	-0.8813	10	0.87932	D	0	-11.1601	19.0899	0.93223	0.0:0.0:1.0:0.0	.	199	Q9NRE2	TSH2_HUMAN	Q	199;196	ENSP00000360552:R199Q;ENSP00000333114:R196Q	ENSP00000333114:R196Q	R	+	2	0	TSHZ2	51304000	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	CGA	rs139565246	TSHZ2	-	NULL		0.577	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	0	0	0	51	51	65	0.00	0.00	G	NM_173485		51870593	+1	59	48	47	42	tier1	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	55.66	53.33	SNP	1.000	A	59	47
ZAN	7455	genome.wustl.edu	37	7	100364861	100364861	+	RNA	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:100364861T>C	ENST00000348028.3	+	0	5006				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCTCACTGCTCAGAGGCTGT	0.592													ENSG00000146839																																					0													48.0	49.0	49.0					7																	100364861		2131	4227	6358			0			-	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364861T>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L1614P	ENST00000348028.3	37	c.4841		7	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106636	0.37145	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.63	4.63	0.57726	von Willebrand factor, type D domain (3);	1.157700	0.06636	N	0.760074	T	0.57873	0.2083	M	0.62088	1.915	0.43360	D	0.99543	B;B	0.27013	0.138;0.166	B;B	0.28638	0.037;0.092	T	0.44128	-0.9348	10	0.31617	T	0.26	.	10.9797	0.47486	0.0:0.0:0.0:1.0	.	1614;1614	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1614;1614;1614;191	ENSP00000445943:L1614P;ENSP00000445091:L1614P;ENSP00000444427:L1614P;ENSP00000441117:L191P	ENSP00000423579:L1614P	L	+	2	0	ZAN	100202797	0.004000	0.15560	0.741000	0.31004	0.254000	0.26022	0.295000	0.19065	2.035000	0.60131	0.459000	0.35465	CTC	-	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	0	62	62	71	0.00	0.00	T	NM_003386		100364861	+1	36	30	51	32	tier1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	41.38	48.39	SNP	0.774	C	36	51
SYNCRIP	10492	genome.wustl.edu	37	6	86333723	86333723	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:86333723C>G	ENST00000369622.3	-	7	1274	c.774G>C	c.(772-774)caG>caC	p.Q258H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.Q258H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	258	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTTCAAGAATCTGTTCCTTGG	0.353													ENSG00000135316																																					0													106.0	103.0	104.0					6																	86333723		2203	4300	6503	SO:0001583	missense	0			-	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.774G>C	6.37:g.86333723C>G	ENSP00000358635:p.Gln258His		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q258H	ENST00000369622.3	37	c.774	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671765	0.47781	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17213	2.29;2.29	5.85	3.14	0.36123	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.33293	1	0.51012	D	0.999908	P;D;B;P;D;P;P	0.58268	0.73;0.982;0.298;0.671;0.961;0.683;0.844	P;P;B;P;P;B;P	0.58013	0.491;0.831;0.229;0.51;0.725;0.358;0.491	T	0.02167	-1.1202	10	0.87932	D	0	.	9.109	0.36716	0.0:0.6366:0.0:0.3634	.	258;258;160;106;258;258;258	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	258	ENSP00000347380:Q258H;ENSP00000358635:Q258H	ENSP00000347380:Q258H	Q	-	3	2	SYNCRIP	86390442	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.767000	0.26575	0.390000	0.25115	-0.252000	0.11476	CAG	-	SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.353	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	0	0	0	55	55	114	0.00	0.00	C	NM_006372		86333723	-1	55	44	61	68	tier1	no_errors	ENST00000369622	ensembl	human	known	74_37	missense	47.41	38.94	SNP	1.000	G	55	61
PCDH19	57526	genome.wustl.edu	37	X	99662489	99662489	+	Silent	SNP	G	G	C	rs199879056		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:99662489G>C	ENST00000373034.4	-	1	2782	c.1107C>G	c.(1105-1107)gcC>gcG	p.A369A	PCDH19_ENST00000255531.7_Silent_p.A369A|PCDH19_ENST00000420881.2_Silent_p.A369A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGCACCAAGGCGATCACGT	0.587													ENSG00000165194																																					0													52.0	55.0	54.0					X																	99662489		2192	4265	6457	SO:0001819	synonymous_variant	0			-	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1107C>G	X.37:g.99662489G>C			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A369	ENST00000373034.4	37	c.1107	CCDS55462.1	X																																																																																			-	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	0	0	0	24	24	23	0.00	0.00	G	NM_020766		99662489	-1	22	7	39	13	tier1	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	36.07	35.00	SNP	0.312	C	22	39
PRKD3	23683	genome.wustl.edu	37	2	37483997	37483997	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:37483997C>T	ENST00000379066.1	-	17	2983	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	PRKD3_ENST00000234179.2_Missense_Mutation_p.A741T			O94806	KPCD3_HUMAN	protein kinase D3	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GCTAAGTATGCTGGAGTTCCT	0.453													ENSG00000115825																									Melanoma(80;621 1355 8613 11814 51767)												0													132.0	125.0	128.0					2																	37483997		2203	4300	6503	SO:0001583	missense	0			-	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2221G>A	2.37:g.37483997C>T	ENSP00000368356:p.Ala741Thr		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A741T	ENST00000379066.1	37	c.2221	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947480	0.92593	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64991	-0.13;-0.13	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	N	0.10685	0.025	0.80722	D	1	D	0.55172	0.97	D	0.69479	0.964	T	0.71185	-0.4667	10	0.51188	T	0.08	-15.9728	19.0616	0.93095	0.0:1.0:0.0:0.0	.	741	O94806	KPCD3_HUMAN	T	741	ENSP00000368356:A741T;ENSP00000234179:A741T	ENSP00000234179:A741T	A	-	1	0	PRKD3	37337501	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.776000	0.85560	2.499000	0.84300	0.591000	0.81541	GCA	-	PRKD3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.453	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	0	0	0	56	56	142	0.00	0.00	C	NM_005813		37483997	-1	56	65	51	67	tier1	no_errors	ENST00000234179	ensembl	human	known	74_37	missense	52.34	49.24	SNP	1.000	T	56	51
PLXNA2	5362	genome.wustl.edu	37	1	208200207	208200207	+	3'UTR	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:208200207T>C	ENST00000367033.3	-	0	6823				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGTTTTTTTCCCTTTTTCT	0.358													ENSG00000076356																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*381A>G	1.37:g.208200207T>C			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	R	SNP	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			-	PLX2	-	-		0.358	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLX2	HGNC	protein_coding	OTTHUMT00000088932.6	0	0	0	106	106	109	0.00	0.00	T	NM_025179		208200207	-1	130	72	292	106	tier1	no_errors	ENST00000483048	ensembl	human	known	74_37	rna	30.81	40.45	SNP	0.866	C	130	292
APOB	338	genome.wustl.edu	37	2	21231998	21231998	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231998A>T	ENST00000233242.1	-	26	7869	c.7742T>A	c.(7741-7743)gTa>gAa	p.V2581E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2581					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTGCTCTACCAATGCTTT	0.448													ENSG00000084674																																					0													110.0	101.0	104.0					2																	21231998		2203	4299	6502	SO:0001583	missense	0			-	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7742T>A	2.37:g.21231998A>T	ENSP00000233242:p.Val2581Glu		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V2581E	ENST00000233242.1	37	c.7742	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762377	0.49468	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.16	5.16	0.70880	.	0.264810	0.26499	N	0.024023	T	0.03305	0.0096	M	0.62723	1.935	0.80722	D	1	D	0.61080	0.989	P	0.55087	0.768	T	0.50145	-0.8862	10	0.87932	D	0	.	15.0185	0.71609	1.0:0.0:0.0:0.0	.	2581	P04114	APOB_HUMAN	E	2581	ENSP00000233242:V2581E	ENSP00000233242:V2581E	V	-	2	0	APOB	21085503	0.974000	0.33945	0.978000	0.43139	0.602000	0.36980	4.975000	0.63777	1.948000	0.56530	0.459000	0.35465	GTA	-	APOB	-	NULL		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0	0	21	21	109	0.00	0.00	A			21231998	-1	22	54	1	11	tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	88.00	83.08	SNP	0.991	T	22	1
CD163	9332	genome.wustl.edu	37	12	7640492	7640492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:7640492C>A	ENST00000359156.4	-	7	1814	c.1612G>T	c.(1612-1614)Gga>Tga	p.G538*	CD163_ENST00000541972.1_Nonsense_Mutation_p.G526*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Nonsense_Mutation_p.G538*|CD163_ENST00000432237.2_Nonsense_Mutation_p.G538*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	538	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGATCTGTCCATTTCCCTCT	0.537													ENSG00000177575																																					0													99.0	86.0	91.0					12																	7640492		2203	4300	6503	SO:0001587	stop_gained	0			-	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1612G>T	12.37:g.7640492C>A	ENSP00000352071:p.Gly538*		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G538*	ENST00000359156.4	37	c.1612	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.216559	0.97385	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.33	5.33	0.75918	.	0.394741	0.24907	N	0.034642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	.	.	.	X	538;526;538;538	.	ENSP00000352071:G538X	G	-	1	0	CD163	7531759	0.337000	0.24766	0.960000	0.40013	0.626000	0.37791	4.669000	0.61575	2.663000	0.90544	0.655000	0.94253	GGA	-	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	0	0	0	78	78	90	0.00	0.00	C	NM_004244, NM_203416		7640492	-1	71	28	66	49	tier1	no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	51.82	36.36	SNP	0.979	A	71	66
IKZF3	22806	genome.wustl.edu	37	17	37922593	37922593	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:37922593G>A	ENST00000346872.3	-	8	1041	c.980C>T	c.(979-981)cCg>cTg	p.P327L	IKZF3_ENST00000467757.1_Missense_Mutation_p.P271L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P254L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P240L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P293L|IKZF3_ENST00000350532.3_Missense_Mutation_p.P288L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P193L|IKZF3_ENST00000351680.3_Missense_Mutation_p.P288L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P145L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P249L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377952.2_Missense_Mutation_p.P106L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P80L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P184L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P232L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	327					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGAGCAGGCGGTGTCTGGAC	0.572													ENSG00000161405																																					0													92.0	84.0	87.0					17																	37922593		2203	4300	6503	SO:0001583	missense	0			-	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.980C>T	17.37:g.37922593G>A	ENSP00000344544:p.Pro327Leu		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P327L	ENST00000346872.3	37	c.980	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673847|4.673847	0.88445|0.88445	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.10382|.	3.13;3.33;3.1;2.88;3.43;3.14;3.13;3.14;2.92;4.1|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	D|D	0.83436|0.83436	0.5254|0.5254	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.986;1.0;1.0;1.0;0.991|.	D;D;D;D;D;D;D;D;P;D;D;D;P|.	0.97110|.	1.0;0.966;0.966;0.966;1.0;0.971;1.0;0.966;0.629;0.964;1.0;1.0;0.772|.	D|D	0.83790|0.83790	0.0230|0.0230	10|5	0.44086|.	T|.	0.13|.	-9.5688|-9.5688	19.9156|19.9156	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240;106;145;193;184;293;249;232;288;271;288;254;327|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	L|C	327;232;193;145;184;240;106;293;288;249;288;271|242;281	ENSP00000367180:P193L;ENSP00000377741:P145L;ENSP00000367179:P184L;ENSP00000367194:P240L;ENSP00000367188:P106L;ENSP00000438972:P293L;ENSP00000345622:P288L;ENSP00000341977:P249L;ENSP00000344471:P288L;ENSP00000420463:P271L|.	ENSP00000341977:P249L|.	P|R	-|-	2|1	0|0	IKZF3|IKZF3	35176119|35176119	1.000000|1.000000	0.71417|0.71417	0.225000|0.225000	0.23894|0.23894	0.795000|0.795000	0.44927|0.44927	9.869000|9.869000	0.99810|0.99810	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	IKZF3	-	NULL		0.572	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	HGNC	protein_coding	OTTHUMT00000257004.2	0	0	0	46	46	51	0.00	0.00	G	NM_012481		37922593	-1	41	19	46	22	tier1	no_errors	ENST00000346872	ensembl	human	known	74_37	missense	47.13	46.34	SNP	0.998	A	41	46
PCDHB13	56123	genome.wustl.edu	37	5	140595974	140595974	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:140595974G>T	ENST00000341948.4	+	1	2466	c.2279G>T	c.(2278-2280)gGg>gTg	p.G760V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	760					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCTCAGGGACCAATGAG	0.547													ENSG00000187372																																					0													120.0	120.0	120.0					5																	140595974		2203	4300	6503	SO:0001583	missense	0			-	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2279G>T	5.37:g.140595974G>T	ENSP00000345491:p.Gly760Val		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G760V	ENST00000341948.4	37	c.2279	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	10.81	1.456089	0.26161	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50277	0.75	3.82	0.866	0.19079	.	.	.	.	.	T	0.51432	0.1674	M	0.93150	3.385	0.20074	N	0.999935	P	0.45011	0.848	B	0.39119	0.291	T	0.53373	-0.8448	9	0.66056	D	0.02	.	2.941	0.05830	0.1699:0.1389:0.5486:0.1426	.	760	Q9Y5F0	PCDBD_HUMAN	V	760;760;706	ENSP00000345491:G760V	ENSP00000345491:G760V	G	+	2	0	PCDHB13	140576158	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.030000	0.12308	-0.068000	0.12953	0.305000	0.20034	GGG	-	PCDHB13	-	NULL		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	0	0	0	134	134	24	0.00	0.00	G	NM_018933		140595974	+1	103	18	141	24	tier1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	42.21	42.86	SNP	0.015	T	103	141
GEMIN5	25929	genome.wustl.edu	37	5	154282137	154282137	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:154282137C>T	ENST00000285873.7	-	20	2903	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	943					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTCAGCTCCCCTCTTTCTGC	0.448													ENSG00000082516																																					0													133.0	127.0	129.0					5																	154282137		2203	4300	6503	SO:0001583	missense	0			-	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2828G>A	5.37:g.154282137C>T	ENSP00000285873:p.Gly943Glu		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G943E	ENST00000285873.7	37	c.2828	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.136354	0.94517	.	.	ENSG00000082516	ENST00000285873	T	0.72505	-0.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85502	0.1192	10	0.66056	D	0.02	-20.6112	20.5948	0.99439	0.0:1.0:0.0:0.0	.	942;943	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	E	943	ENSP00000285873:G943E	ENSP00000285873:G943E	G	-	2	0	GEMIN5	154262330	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.873000	0.98535	0.563000	0.77884	GGG	-	GEMIN5	-	NULL		0.448	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	0	0	0	54	54	60	0.00	0.00	C			154282137	-1	40	42	43	40	tier1	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	48.19	51.22	SNP	1.000	T	40	43
UGT1A5	54579	genome.wustl.edu	37	2	234621847	234621847	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:234621847A>C	ENST00000373414.3	+	1	210	c.210A>C	c.(208-210)aaA>aaC	p.K70N	UGT1A1_ENST00000608381.1_Missense_Mutation_p.K70N|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	70						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGTACATCAAAGAAGAGAACT	0.527													ENSG00000240224																																					0													95.0	88.0	90.0					2																	234621847		2203	4300	6503	SO:0001583	missense	0			-	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.210A>C	2.37:g.234621847A>C	ENSP00000362513:p.Lys70Asn		B8K294	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K70N	ENST00000373414.3	37	c.210	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076696	0.36662	.	.	ENSG00000240224	ENST00000373414	T	0.61627	0.09	4.83	-0.411	0.12370	.	0.432837	0.26650	N	0.023218	T	0.62356	0.2421	L	0.58302	1.8	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.66979	0.948;0.948	T	0.52786	-0.8529	10	0.30078	T	0.28	.	6.1632	0.20376	0.3422:0.0:0.5147:0.1431	.	70;70	Q5DSZ9;P35504	.;UD15_HUMAN	N	70	ENSP00000362513:K70N	ENSP00000362513:K70N	K	+	3	2	UGT1A5	234286586	0.000000	0.05858	0.002000	0.10522	0.146000	0.21551	-2.157000	0.01282	-0.031000	0.13781	0.449000	0.29647	AAA	-	UGT1A5	-	pfam_UDP_glucos_trans		0.527	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	0	0	0	63	63	83	0.00	0.00	A	NM_019078		234621847	+1	58	34	74	55	tier1	no_errors	ENST00000373414	ensembl	human	known	74_37	missense	43.94	38.20	SNP	0.005	C	58	74
ZP4	57829	genome.wustl.edu	37	1	238048788	238048788	+	Silent	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:238048788T>G	ENST00000366570.4	-	8	1221	c.1063A>C	c.(1063-1065)Aga>Cga	p.R355R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGTCTGTTCTGTGAAGGATG	0.537													ENSG00000116996																									NSCLC(166;160 2029 11600 18754 19936)												0													65.0	65.0	65.0					1																	238048788		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1063A>C	1.37:g.238048788T>G			B2RAE1	Silent	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R355	ENST00000366570.4	37	c.1063	CCDS1615.1	1																																																																																			-	ZP4	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	0	0	0	57	57	75	0.00	0.00	T			238048788	-1	42	53	121	113	tier1	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	25.77	31.93	SNP	0.844	G	42	121
CHDC2	286464	genome.wustl.edu	37	X	36117934	36117934	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:36117934A>G	ENST00000313548.4	+	7	976	c.790A>G	c.(790-792)Atg>Gtg	p.M264V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	264						integral component of membrane (GO:0016021)											TGTTATAGAAATGTCTAAATT	0.328													ENSG00000176034																																					0													92.0	98.0	96.0					X																	36117934		2202	4299	6501	SO:0001583	missense	0			-	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.790A>G	X.37:g.36117934A>G	ENSP00000324767:p.Met264Val			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.M264V	ENST00000313548.4	37	c.790	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	A	6.874	0.530601	0.13127	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	3.4	0.38934	.	0.554118	0.16414	N	0.215471	T	0.28599	0.0708	L	0.40543	1.245	0.09310	N	1	B	0.28082	0.2	B	0.19666	0.026	T	0.13980	-1.0489	9	0.28530	T	0.3	-4.088	6.0523	0.19792	0.725:0.0:0.275:0.0	.	264	Q8N9S7	CX059_HUMAN	V	264	.	ENSP00000324767:M264V	M	+	1	0	CXorf59	36027855	0.251000	0.23961	0.008000	0.14137	0.134000	0.20937	1.026000	0.30103	0.808000	0.34231	0.412000	0.27726	ATG	-	CHDC2	-	NULL		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding		0	0	0	103	103	143	0.00	0.00	A	NM_173695		36117934	+1	102	47	109	84	tier1	no_errors	ENST00000313548	ensembl	human	known	74_37	missense	48.11	35.88	SNP	0.003	G	102	109
APOB	338	genome.wustl.edu	37	2	21231996	21231996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231996delC	ENST00000233242.1	-	26	7871	c.7744delG	c.(7744-7746)gagfs	p.E2582fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2582					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCCTTGCTCTACCAATGCT	0.453													ENSG00000084674																																					0													110.0	101.0	104.0					2																	21231996		2203	4299	6502	SO:0001589	frameshift_variant	0				M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7744delG	2.37:g.21231996delC	ENSP00000233242:p.Glu2582fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E2582fs	ENST00000233242.1	37	c.7744	CCDS1703.1	2																																																																																				APOB	-	NULL		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0	0	21	21	107	0.00	0.00	C			21231996	-1	21	52	3	13	tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	frame_shift_del	87.50	80.00	DEL	1.000	-	21	3
MEST	4232	genome.wustl.edu	37	7	130140375	130140375	+	Splice_Site	DEL	T	T	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:130140375delT	ENST00000223215.4	+	8	868		c.e8+2		MEST_ENST00000437945.1_Splice_Site|MEST_ENST00000416162.2_Splice_Site|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Splice_Site|MEST_ENST00000462132.1_Splice_Site|MEST_ENST00000341441.5_Splice_Site|MEST_ENST00000378576.4_Splice_Site	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTCTCGAGGGTAAGTGTCACT	0.443													ENSG00000106484																									Colon(126;2182 2305 6517 35181)												0													73.0	63.0	66.0					7																	130140375		2203	4300	6503	SO:0001630	splice_region_variant	0					CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.647+2T>-	7.37:g.130140375delT			B2R6S1|O14973|O15007|Q6AI49|Q92571	Splice_Site	DEL	-	e8+2	ENST00000223215.4	37	c.647+2	CCDS5822.1	7																																																																																				MEST	-	-		0.443	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEST	HGNC	protein_coding	OTTHUMT00000345183.2	0	0	0	46	46	79	0.00	0.00	T	NM_002402	Intron	130140375	+1	42	29	57	54	tier1	no_errors	ENST00000223215	ensembl	human	known	74_37	splice_site_del	42.42	34.94	DEL	1.000	-	42	57
PKHD1L1	93035	genome.wustl.edu	37	8	110499030	110499030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:110499030delA	ENST00000378402.5	+	59	9964	c.9860delA	c.(9859-9861)gaafs	p.E3287fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3287					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATTCACTGAAAATATGATG	0.368										HNSCC(38;0.096)			ENSG00000205038																																					0													204.0	199.0	201.0					8																	110499030		1909	4106	6015	SO:0001589	frameshift_variant	0				AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9860delA	8.37:g.110499030delA	ENSP00000367655:p.Glu3287fs		Q567P2|Q9UF27	Frame_Shift_Del	DEL	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.N3288fs	ENST00000378402.5	37	c.9860	CCDS47911.1	8																																																																																				PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	0	0	0	82	82	95	0.00	0.00	A	NM_177531		110499030	+1	82	56	100	49	tier1	no_errors	ENST00000378402	ensembl	human	known	74_37	frame_shift_del	45.05	53.33	DEL	0.077	-	82	100
DEFB107A	245910	genome.wustl.edu	37	8	7673081	7673081	+	Splice_Site	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:7673081C>T	ENST00000335021.2	-	1	157	c.70G>A	c.(70-72)Gcc>Acc	p.A24T		NM_001037668.1	NP_001032757.2	Q8IZN7	D107A_HUMAN	defensin, beta 107A	24					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCCCTCTTACCTTGGAAAATT	0.408													ENSG00000186572																																					0													3.0	3.0	3.0					8																	7673081		1186	2662	3848	SO:0001630	splice_region_variant	0			-	AF540979	CCDS43699.1	8p23.1	2011-03-29		2005-02-25	ENSG00000186572	ENSG00000186572		"""Defensins, beta"""	18086	protein-coding gene	gene with protein product				DEFB107		11854508	Standard	NM_001037668		Approved	DEFB-7	uc003wrq.1	Q8IZN7	OTTHUMG00000150013	ENST00000335021.2:c.70+1G>A	8.37:g.7673081C>T			B2RPM1|Q30E75|Q8NET2	Missense_Mutation	SNP	NULL	p.A24T	ENST00000335021.2	37	c.70	CCDS43699.1	8	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532953	0.45073	.	.	ENSG00000186572	ENST00000335021	.	.	.	2.78	2.78	0.32641	.	0.199701	0.25030	N	0.033699	T	0.35595	0.0937	.	.	.	0.27323	N	0.95699	.	.	.	.	.	.	T	0.15607	-1.0431	5	.	.	.	-1.585	9.2208	0.37375	0.0:1.0:0.0:0.0	.	.	.	.	T	24	.	.	A	-	1	0	DEFB107A	7710491	1.000000	0.71417	0.997000	0.53966	0.467000	0.32768	2.355000	0.44107	1.876000	0.54355	0.609000	0.83330	GCC	-	DEFB107A	-	NULL		0.408	DEFB107A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB107A	HGNC	protein_coding	OTTHUMT00000315760.1	0	0	0	54	54	10	0.00	0.00	C		Missense_Mutation	7673081	-1	15	2	95	7	tier1	no_errors	ENST00000335021	ensembl	human	known	74_37	missense	13.64	22.22	SNP	0.998	T	15	95
MBL1P	8512	genome.wustl.edu	37	10	81680246	81680246	+	RNA	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:81680246A>T	ENST00000480805.1	+	0	313					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GATAGACCCAAGGGGGAAAAG	0.557													ENSG00000242600																																					0																																												0			-	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680246A>T				R	SNP	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			-	MBL1P	-	-		0.557	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	HGNC	pseudogene	OTTHUMT00000049017.1	0	0	0	64	64	87	0.00	0.00	A			81680246	+1	59	44	12	4	tier1	no_errors	ENST00000480805	ensembl	human	known	74_37	rna	81.94	91.67	SNP	0.997	T	59	12
TNF	7124	genome.wustl.edu	37	6	31543603	31543603	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:31543603C>T	ENST00000449264.2	+	1	260	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GGGCTCCAGGCGGTGCTTGTT	0.637									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				ENSG00000232810																																					0													74.0	75.0	75.0					6																	31543603		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.85C>T	6.37:g.31543603C>T	ENSP00000398698:p.Arg29Trp		O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF	p.R29W	ENST00000449264.2	37	c.85	CCDS4702.1	6	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068008	0.36470	.	.	ENSG00000232810	ENST00000449264	T	0.75938	-0.98	5.77	1.53	0.23141	.	0.301188	0.33005	N	0.005382	T	0.76126	0.3944	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.69172	-0.5215	10	0.42905	T	0.14	.	8.7152	0.34408	0.608:0.3174:0.0:0.0746	.	29	P01375	TNFA_HUMAN	W	29	ENSP00000398698:R29W	ENSP00000398698:R29W	R	+	1	2	TNF	31651582	0.005000	0.15991	0.027000	0.17364	0.378000	0.30076	0.140000	0.16056	-0.040000	0.13580	0.655000	0.94253	CGG	-	TNF	-	prints_TNF_alpha		0.637	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNF	HGNC	protein_coding	OTTHUMT00000076390.2	0	0	0	57	57	22	0.00	0.00	C			31543603	+1	44	10	7	6	tier1	no_errors	ENST00000449264	ensembl	human	known	74_37	missense	86.27	62.50	SNP	0.008	T	44	7
TP53	7157	genome.wustl.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	GRCh37	CM994513	TP53	M							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158H	ENST00000269305.4	37	c.473	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	31	31	57	0.00	0.00	C	NM_000546		7578457	-1	36	30	9	1	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.00	96.77	SNP	0.989	T	36	9
TRIM21	6737	genome.wustl.edu	37	11	4409555	4409555	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:4409555T>C	ENST00000254436.7	-	4	822	c.710A>G	c.(709-711)cAc>cGc	p.H237R	TRIM21_ENST00000543625.1_Missense_Mutation_p.H237R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	237					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGCTGAGCTGTGGCACCTTCG	0.547													ENSG00000132109																																					0													70.0	70.0	70.0					11																	4409555		1978	4163	6141	SO:0001583	missense	0			-	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.710A>G	11.37:g.4409555T>C	ENSP00000254436:p.His237Arg		Q5XPV5|Q96RF8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.H237R	ENST00000254436.7	37	c.710	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	T	0.282	-0.985748	0.02180	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.05855	3.38;3.38	4.34	0.229	0.15368	.	0.781993	0.11125	N	0.597002	T	0.02012	0.0063	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46205	-0.9208	10	0.33141	T	0.24	.	6.2731	0.20965	0.0:0.4911:0.0:0.5089	.	237	P19474	RO52_HUMAN	R	237	ENSP00000254436:H237R;ENSP00000444045:H237R	ENSP00000254436:H237R	H	-	2	0	TRIM21	4366131	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.113000	0.15499	0.046000	0.15833	0.533000	0.62120	CAC	-	TRIM21	-	NULL		0.547	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	0	0	0	46	46	45	0.00	0.00	T	NM_003141		4409555	-1	41	19	11	5	tier1	no_errors	ENST00000254436	ensembl	human	known	74_37	missense	78.85	79.17	SNP	0.016	C	41	11
CFAP46	54777	genome.wustl.edu	37	10	134755529	134755529	+	Silent	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:134755529G>A	ENST00000368586.5	-	2	229	c.129C>T	c.(127-129)agC>agT	p.S43S	TTC40_ENST00000368585.3_Silent_p.S43S|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Silent_p.S43S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGGCTGAAGCTCTCTGAGG	0.562													ENSG00000171811																																					0													122.0	119.0	120.0					10																	134755529		692	1591	2283	SO:0001819	synonymous_variant	0			-																												ENST00000368586.5:c.129C>T	10.37:g.134755529G>A				Silent	SNP	NULL	p.S43	ENST00000368586.5	37	c.129	CCDS58101.1	10																																																																																			-	TTC40	-	NULL		0.562	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	0	0	0	70	70	97	0.00	0.00	G			134755529	-1	45	54	15	5	tier1	no_errors	ENST00000368582	ensembl	human	known	74_37	silent	75.00	91.53	SNP	1.000	A	45	15
SLC5A4	6527	genome.wustl.edu	37	22	32617002	32617002	+	Missense_Mutation	SNP	C	C	A	rs74530943	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32617002C>A	ENST00000266086.4	-	14	1684	c.1673G>T	c.(1672-1674)cGc>cTc	p.R558L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	558					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCAGCACAGGCGGTACAGCTG	0.403													ENSG00000100191																																					0													147.0	128.0	135.0					22																	32617002		2203	4300	6503	SO:0001583	missense	0			-	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1673G>T	22.37:g.32617002C>A	ENSP00000266086:p.Arg558Leu		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R558L	ENST00000266086.4	37	c.1673	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842747	0.51057	.	.	ENSG00000100191	ENST00000266086	D	0.81821	-1.54	4.49	3.48	0.39840	.	0.060319	0.64402	D	0.000003	D	0.88179	0.6367	M	0.92026	3.265	0.58432	D	0.999992	P	0.50528	0.936	P	0.54544	0.755	D	0.89321	0.3640	10	0.87932	D	0	.	10.1909	0.43026	0.0:0.9026:0.0:0.0974	.	558	Q9NY91	SC5A4_HUMAN	L	558	ENSP00000266086:R558L	ENSP00000266086:R558L	R	-	2	0	SLC5A4	30947002	1.000000	0.71417	0.650000	0.29550	0.226000	0.24999	4.284000	0.58983	1.109000	0.41680	0.467000	0.42956	CGC	-	SLC5A4	-	NULL		0.403	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	0	0	0	87	87	101	0.00	0.00	C	NM_014227		32617002	-1	14	10	143	107	tier1	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	8.92	8.55	SNP	0.999	A	14	143
PRKDC	5591	genome.wustl.edu	37	8	48746783	48746783	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:48746783C>T	ENST00000314191.2	-	60	8179	c.8123G>A	c.(8122-8124)gGg>gAg	p.G2708E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2708E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2709	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACCTCGTCCCCTGGAAGGCC	0.498								Non-homologous end-joining					ENSG00000253729																									Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													245.0	248.0	247.0					8																	48746783		1978	4166	6144	SO:0001583	missense	0			-		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8123G>A	8.37:g.48746783C>T	ENSP00000313420:p.Gly2708Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G2708E	ENST00000314191.2	37	c.8123		8	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323294	0.41096	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02323	4.41;4.34	5.27	3.45	0.39498	.	0.398796	0.23389	N	0.048714	T	0.03348	0.0097	L	0.47716	1.5	0.34788	D	0.73545	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.004	T	0.28554	-1.0040	10	0.12430	T	0.62	.	12.02	0.53337	0.0:0.857:0.0:0.143	.	2708;2709	E7EUY0;P78527	.;PRKDC_HUMAN	E	2708	ENSP00000313420:G2708E;ENSP00000345182:G2708E	ENSP00000313420:G2708E	G	-	2	0	PRKDC	48909336	0.748000	0.28294	0.787000	0.31911	0.984000	0.73092	1.586000	0.36611	0.585000	0.29608	0.563000	0.77884	GGG	-	PRKDC	-	NULL		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		0	0	0	117	117	84	0.00	0.00	C	NM_001081640		48746783	-1	22	12	233	122	tier1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	8.63	8.96	SNP	0.962	T	22	233
RIMS1	22999	genome.wustl.edu	37	6	73043425	73043425	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:73043425C>G	ENST00000521978.1	+	29	4253	c.4253C>G	c.(4252-4254)aCa>aGa	p.T1418R	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.T224R|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.T1241R|RIMS1_ENST00000348717.5_Missense_Mutation_p.T1201R|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1267R|RIMS1_ENST00000517960.1_Missense_Mutation_p.T1201R|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.T738R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1418					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGTCAGACACAGCTGTGGGT	0.527													ENSG00000079841																																					0													61.0	68.0	66.0					6																	73043425		2062	4194	6256	SO:0001583	missense	0			-	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4253C>G	6.37:g.73043425C>G	ENSP00000428417:p.Thr1418Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T1418R	ENST00000521978.1	37	c.4253	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.2|27.2|27.2	4.806808|4.806808|4.806808	0.90623|0.90623|0.90623	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|.|T;T;T;T;T;T;T;T;T	.|.|0.23950	.|.|2.11;2.45;2.24;2.45;2.18;2.31;2.18;1.88;1.89	5.66|5.66|5.66	5.66|5.66|5.66	0.87406|0.87406|0.87406	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.43656|0.43656|0.43656	0.1257|0.1257|0.1257	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D	.|.|0.76494	.|.|0.992;0.998;0.999;0.998;0.999;0.999;0.998	.|.|P;D;D;D;D;D;D	.|.|0.80764	.|.|0.838;0.99;0.986;0.991;0.994;0.994;0.986	T|T|T	0.26849|0.26849|0.26849	-1.0091|-1.0091|-1.0091	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-18.3136|-18.3136|-18.3136	20.1225|20.1225|20.1225	0.97967|0.97967|0.97967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|224;1267;738;1201;494;1241;1418	.|.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;RIMS1_HUMAN	Q|E|R	763|336|1241;1267;1241;1201;1267;1201;1418;738;583;466;224	.|.|ENSP00000430101:T1241R;ENSP00000275037:T1201R;ENSP00000264839:T1267R;ENSP00000429959:T1201R;ENSP00000428417:T1418R;ENSP00000385649:T738R;ENSP00000389503:T583R;ENSP00000359448:T466R;ENSP00000439730:T224R	.|.|ENSP00000264839:T1267R	H|Q|T	+|+|+	3|1|2	2|0|0	RIMS1|RIMS1|RIMS1	73100146|73100146|73100146	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.993000|0.993000|0.993000	0.49108|0.49108|0.49108	0.978000|0.978000|0.978000	0.69477|0.69477|0.69477	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.831000|2.831000|2.831000	0.97527|0.97527|0.97527	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CAG|ACA	-	RIMS1	-	NULL		0.527	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	0	0	0	59	59	102	0.00	0.00	C			73043425	+1	11	9	97	115	tier1	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	10.19	7.26	SNP	1.000	G	11	97
FOXO4	4303	genome.wustl.edu	37	X	70320816	70320816	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:70320816A>G	ENST00000374259.3	+	2	1068	c.736A>G	c.(736-738)Aac>Gac	p.N246D	FOXO4_ENST00000341558.3_Missense_Mutation_p.N191D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	246					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TTGCTCTCGAAACCGTGAAGA	0.587											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000184481																																					0													33.0	33.0	33.0					X																	70320816		2015	4172	6187	SO:0001583	missense	0			-		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.736A>G	X.37:g.70320816A>G	ENSP00000363377:p.Asn246Asp	1121	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N246D	ENST00000374259.3	37	c.736	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001114	0.35320	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95377	-3.46;-3.69	5.11	5.11	0.69529	.	0.143832	0.64402	D	0.000010	D	0.89911	0.6852	N	0.14661	0.345	0.26441	N	0.975768	B;B;B	0.22211	0.008;0.066;0.015	B;B;B	0.24394	0.007;0.053;0.027	T	0.81571	-0.0872	10	0.35671	T	0.21	-26.1501	13.1883	0.59695	1.0:0.0:0.0:0.0	.	246;191;246	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	246;191	ENSP00000363377:N246D;ENSP00000342209:N191D	ENSP00000342209:N191D	N	+	1	0	FOXO4	70237541	1.000000	0.71417	0.905000	0.35620	0.817000	0.46193	8.761000	0.91691	1.908000	0.55244	0.422000	0.28245	AAC	-	FOXO4	-	NULL		0.587	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	0	0	1	41	41	74	0.00	1.33	A	NM_005938		70320816	+1	10	8	87	75	tier1	no_errors	ENST00000374259	ensembl	human	known	74_37	missense	10.20	9.64	SNP	0.990	G	10	87
DUSP12	11266	genome.wustl.edu	37	1	161726620	161726639	+	Frame_Shift_Del	DEL	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	-	rs112604425|rs542400759		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	-	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161726620_161726639delGTATGGTGAACAGTGCTCTT	ENST00000367943.4	+	6	938_957	c.906_925delGTATGGTGAACAGTGCTCTT	c.(904-927)tggtatggtgaacagtgctcttgtfs	p.YGEQCSC303fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	303					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTTCAACTGGTATGGTGAACAGTGCTCTTGTGGTAGGTG	0.355													ENSG00000081721																																					0																																										SO:0001589	frameshift_variant	0				AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.906_925delGTATGGTGAACAGTGCTCTT	1.37:g.161726620_161726639delGTATGGTGAACAGTGCTCTT	ENSP00000356920:p.Tyr303fs		Q5VXA8	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y303fs	ENST00000367943.4	37	c.906_925	CCDS1234.1	1																																																																																				DUSP12	-	pirsf_DUSP12		0.355	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1	0	0	0	149	149	149	0.00	0.00	GTATGGTGAACAGTGCTCTT	NM_007240		161726639	+1	8	8	171	171	tier1	no_errors	ENST00000367943	ensembl	human	known	74_37	frame_shift_del	4.47	4.47	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.000:0.951	-	8	171
SRL	6345	genome.wustl.edu	37	16	4257305	4257305	+	Intron	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr16:4257305C>T	ENST00000399609.3	-	2	74				SRL_ENST00000537996.1_Intron	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin							sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GTGTCCCCTGCCTTAACGCTT	0.607													ENSG00000185739																																					0																																										SO:0001627	intron_variant	0			-	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.62-2670G>A	16.37:g.4257305C>T				Missense_Mutation	SNP	NULL	p.A288T	ENST00000399609.3	37	c.862	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	c	16.03	3.006397	0.54361	.	.	ENSG00000185739	ENST00000330063	.	.	.	5.38	3.28	0.37604	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25363	-1.0134	5	0.16896	T	0.51	2.0E-4	6.448	0.21887	0.0:0.7134:0.1787:0.1078	.	.	.	.	T	288	.	ENSP00000333285:A288T	A	-	1	0	SRL	4197306	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.542000	0.06091	0.522000	0.28464	0.639000	0.83563	GCA	-	SRL	-	NULL		0.607	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	0	0	1	27	27	35	0.00	2.78	C	XM_064152		4257305	-1	41	11	41	24	tier1	no_errors	ENST00000572111	ensembl	human	known	74_37	missense	50.00	31.43	SNP	0.000	T	41	41
AR	367	genome.wustl.edu	37	X	66765155	66765155	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:66765155T>A	ENST00000374690.3	+	1	691	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	AR_ENST00000504326.1_Missense_Mutation_p.L56Q|AR_ENST00000396044.3_Missense_Mutation_p.L56Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	56	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGTTTGCTGCTGCTgcagcag	0.662									Androgen Insensitivity Syndrome				ENSG00000169083																																					0													10.0	13.0	12.0					X																	66765155		2155	4231	6386	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.167T>A	X.37:g.66765155T>A	ENSP00000363822:p.Leu56Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.L56Q	ENST00000374690.3	37	c.167	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	8.315	0.823004	0.16678	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	.	.	.	.	0.160911	0.29861	N	0.011003	T	0.42854	0.1221	N	0.02539	-0.55	0.09310	N	0.999999	B;B;D	0.76494	0.001;0.002;0.999	B;B;D	0.87578	0.0;0.0;0.998	T	0.42172	-0.9467	8	0.22109	T	0.4	.	.	.	.	.	56;56;54	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	56	ENSP00000363822:L56Q;ENSP00000421155:L56Q;ENSP00000379359:L56Q	ENSP00000363822:L56Q	L	+	2	0	AR	66681880	1.000000	0.71417	0.901000	0.35422	0.483000	0.33249	0.417000	0.21214	0.000000	0.14550	0.000000	0.15137	CTG	-	AR	-	pfam_Andrgn_rcpt		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	0	0	0	57	57	6	0.00	0.00	T	NM_000044		66765155	+1	7	0	70	4	tier1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	9.09	0.00	SNP	0.942	A	7	70
RP11-815J4.6	0	genome.wustl.edu	37	18	12076541	12076542	+	RNA	INS	-	-	CGCCGCCGCCGC	rs553400288	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr18:12076541_12076542insCGCCGCCGCCGC	ENST00000591780.1	-	0	53_54																											CAGTGCCGCGGcgccgccgccg	0.797													ENSG00000256616																																					0																																												0																																18.37:g.12076541_12076542insCGCCGCCGCCGC				R	INS	-	NULL	ENST00000591780.1	37	NULL		18																																																																																				RP11-815J4.6	-	-		0.797	RP11-815J4.6-002	KNOWN	basic	processed_transcript	ENSG00000256616	Clone_based_vega_gene	pseudogene	OTTHUMT00000452539.1	0	0	0	0	0	0	0.00	0.00	-			12076542	-1	0	0	0	0	tier1	no_errors	ENST00000591780	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.834:0.844	CGCCGCCGCCGC	0	0
WASH6P	653440	genome.wustl.edu	37	X	155252987	155252988	+	RNA	INS	-	-	CAGCACCAC			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:155252987_155252988insCAGCACCAC	ENST00000461007.1	+	0	1903_1904				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGGGGTactaacaccaccccca	0.658													ENSG00000270726		2815	0.562101	0.5726	0.585	5008	,	,		4013	0.4742		0.6402	False		,,,				2504	0.5419																0																																												0				AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252987_155252988insCAGCACCAC			A6NGF1|Q8N305	R	INS	-	NULL	ENST00000461007.1	37	NULL		X																																																																																				AJ271736.10	-	-		0.658	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1	0	0	0	0	0	0	0.00	0.00	-	NG_008380		155252988	+1	1	1	0	0	tier1	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	100.00	100.00	INS	0.959:1.000	CAGCACCAC	1	0
GOLGA6L6	727832	genome.wustl.edu	37	15	20739541	20739541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:20739541C>A	ENST00000427390.2	-	8	2299	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	737	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						AGCCTCACTTCCTGCTCCCAC	0.587													ENSG00000215405																																					0													1.0	1.0	1.0					15																	20739541		190	502	692	SO:0001587	stop_gained	0			-	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.2209G>T	15.37:g.20739541C>A	ENSP00000398615:p.Glu737*		D3YTC0	Nonsense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E737*	ENST00000427390.2	37	c.2209	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556765	0.65425	.	.	ENSG00000215405	ENST00000427390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43360	D	0.995432	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.9503	0.19242	0.0:0.9994:0.0:6.0E-4	.	.	.	.	X	737	.	ENSP00000398615:E737X	E	-	1	0	GOLGA6L6	18999555	0.000000	0.05858	0.031000	0.17742	0.031000	0.12232	-0.156000	0.10100	0.159000	0.19401	0.162000	0.16502	GAA	-	GOLGA6L6	-	NULL		0.587	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	0	0	0	27	27	0	0.00	0.00	C	NM_001145004		20739541	-1	24	0	35	0	tier1	no_errors	ENST00000427390	ensembl	human	known	74_37	nonsense	40.68	0.00	SNP	0.002	A	24	35
PCNT	5116	genome.wustl.edu	37	21	47848501	47848501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr21:47848501C>T	ENST00000359568.5	+	35	7794	c.7687C>T	c.(7687-7689)Cag>Tag	p.Q2563*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2563					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGCGCAGGCAGGGTGGGTG	0.682													ENSG00000160299																																					0													11.0	12.0	11.0					21																	47848501		2177	4281	6458	SO:0001587	stop_gained	0			-	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7687C>T	21.37:g.47848501C>T	ENSP00000352572:p.Gln2563*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.Q2563*	ENST00000359568.5	37	c.7687	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	48	14.834946	0.99812	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.51	3.61	0.41365	.	0.602111	0.12668	N	0.449003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	12.2676	0.54686	0.3227:0.6773:0.0:0.0	.	.	.	.	X	2563	.	ENSP00000352572:Q2563X	Q	+	1	0	PCNT	46672929	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.045000	0.49838	1.170000	0.42753	0.563000	0.77884	CAG	-	PCNT	-	NULL		0.682	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	0	0	0	12	12	3	0.00	0.00	C	NM_006031		47848501	+1	11	2	10	3	tier1	no_errors	ENST00000359568	ensembl	human	known	74_37	nonsense	52.38	40.00	SNP	1.000	T	11	10
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA|RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAGAGCCTGTGACCTCCACGGC	0.619													ENSG00000178222																																					0																																										SO:0001627	intron_variant	0				AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.247-2701->GGCTGGCTCCAGCCTGGGCAG	4.37:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC			C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	In_Frame_Ins	INS	pfscan_Znf_RING	p.S241in_frame_insWLAPAWAA	ENST00000433731.2	37	c.722_721	CCDS46996.1	4																																																																																				RNF212	-	NULL		0.619	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2	0	0	0	2	2	2	0.00	0.00	-	NM_194439		1087328	-1	4	4	7	7	tier1	no_errors	ENST00000333673	ensembl	human	known	74_37	in_frame_ins	36.36	36.36	INS	0.085:0.000	CTGCCCAGGCTGGAGCCAGCC	4	7
PHF20L1	51105	genome.wustl.edu	37	8	133854714	133854715	+	Intron	INS	-	-	T	rs71276510|rs398038307		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:133854714_133854715insT	ENST00000395386.2	+	19	2686				PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395390.2_Intron|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTGTTAATAGATTTTTTTTTTT	0.356													ENSG00000223697																																					0																																										SO:0001627	intron_variant	0				AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2388-45->T	8.37:g.133854725_133854725dupT			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	R	INS	-	NULL	ENST00000395386.2	37	NULL	CCDS6367.2	8																																																																																				AF230666.2	-	-		0.356	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ENSG00000223697	Clone_based_vega_gene	protein_coding	OTTHUMT00000308949.3	0	0	0	24	24	48	0.00	0.00	-	NM_016018		133854715	-1	5	2	42	64	tier1	no_errors	ENST00000608375	ensembl	human	known	74_37	rna	10.64	3.03	INS	0.014:0.003	T	5	42
