#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS2	9509	genome.wustl.edu	37	5	178566948	178566948	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr5:178566948C>T	ENST00000251582.7	-	11	1819	c.1718G>A	c.(1717-1719)tGc>tAc	p.C573Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	573	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTACGTGAGCAGGAGCCAAA	0.592																																						dbGAP											0													127.0	132.0	130.0					5																	178566948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1718G>A	5.37:g.178566948C>T	ENSP00000251582:p.Cys573Tyr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.C573Y	ENST00000251582.7	37	c.1718	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235862	0.79800	.	.	ENSG00000087116	ENST00000251582	D	0.98585	-5.01	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000015	D	0.99518	0.9828	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97610	1.0129	10	0.87932	D	0	.	17.1242	0.86710	0.0:1.0:0.0:0.0	.	573	O95450	ATS2_HUMAN	Y	573	ENSP00000251582:C573Y	ENSP00000251582:C573Y	C	-	2	0	ADAMTS2	178499554	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.338000	0.79269	2.281000	0.76405	0.561000	0.74099	TGC	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	31	0.00	0	C	NM_014244		178566948	178566948	-1	no_errors	ENST00000251582	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	T
ADAMTSL5	339366	genome.wustl.edu	37	19	1506309	1506309	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr19:1506309T>G	ENST00000413997.2	-	12	1150	c.1151A>C	c.(1150-1152)cAg>cCg	p.Q384P	ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.Q374P|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Splice_Site|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	384	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCGGGCCTGGAACACTGT	0.642																																						dbGAP											0													33.0	29.0	30.0					19																	1506309		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1151A>C	19.37:g.1506309T>G	ENSP00000399364:p.Gln384Pro		B4DXK7|Q8IW95	Splice_Site	SNP	-	e3-2	ENST00000413997.2	37	c.350-2		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.45|15.45	2.835921|2.835921	0.50951|0.50951	.|.	.|.	ENSG00000185761|ENSG00000185761	ENST00000395467|ENST00000413997;ENST00000330475	.|T;T	.|0.23552	.|1.9;1.9	3.36|3.36	2.31|2.31	0.28768|0.28768	.|Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	.|0.070505	.|0.56097	.|D	.|0.000034	.|T	.|0.14399	.|0.0348	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48911	.|0.917;0.856	.|B;B	.|0.41894	.|0.369;0.284	.|T	.|0.04870	.|-1.0921	.|10	.|0.66056	.|D	.|0.02	.|.	3.5877|3.5877	0.07977|0.07977	0.0:0.6314:0.0:0.3686|0.0:0.6314:0.0:0.3686	.|.	.|384;374	.|B4DXK7;Q6ZMM2	.|.;ATL5_HUMAN	.|P	-1|384;374	.|ENSP00000399364:Q384P;ENSP00000327608:Q374P	.|ENSP00000327608:Q374P	.|Q	-|-	.|2	.|0	ADAMTSL5|ADAMTSL5	1457309|1457309	0.986000|0.986000	0.35501|0.35501	0.998000|0.998000	0.56505|0.56505	0.885000|0.885000	0.51271|0.51271	1.736000|1.736000	0.38187|0.38187	0.563000|0.563000	0.29222|0.29222	0.374000|0.374000	0.22700|0.22700	.|CAG	ADAMTSL5	-	-	ENSG00000185761		0.642	ADAMTSL5-202	KNOWN	basic	protein_coding	ADAMTSL5	HGNC	protein_coding		17	0.00	0	T	XM_294919		1506309	1506309	-1	no_errors	ENST00000395467	ensembl	human	known	69_37n	splice_site	16	20.00	4	SNP	1.000	G
ALS2CR11	151254	genome.wustl.edu	37	2	202357559	202357559	+	Intron	SNP	G	G	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr2:202357559G>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.H1169N|ALS2CR11_ENST00000439802.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTGGTGATATGTCCTGATTCT	0.353																																						dbGAP											0													28.0	22.0	23.0					2																	202357559		692	1589	2281	-	-	-	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+3058C>A	2.37:g.202357559G>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.H1169N	ENST00000286195.3	37	c.3505	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202969	0.38905	.	.	ENSG00000155754	ENST00000439140	T	0.46819	0.86	5.5	2.38	0.29361	.	.	.	.	.	T	0.43986	0.1272	L	0.34521	1.04	0.80722	D	1	D	0.60160	0.987	P	0.55391	0.775	T	0.39683	-0.9602	9	0.54805	T	0.06	.	4.3689	0.11237	0.0856:0.2249:0.5517:0.1378	.	1169	E9PGG4	.	N	1169	ENSP00000409937:H1169N	ENSP00000409937:H1169N	H	-	1	0	ALS2CR11	202065804	0.576000	0.26700	1.000000	0.80357	0.993000	0.82548	0.026000	0.13599	1.328000	0.45358	0.557000	0.71058	CAT	ALS2CR11	-	NULL	ENSG00000155754		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	22	0.00	0	G	NM_152525		202357559	202357559	-1	no_errors	ENST00000439140	ensembl	human	novel	69_37n	missense	16	15.79	3	SNP	0.981	T
CDH1	999	genome.wustl.edu	37	16	68857496	68857496	+	Frame_Shift_Del	DEL	C	C	-	rs121964871		TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr16:68857496delC	ENST00000261769.5	+	13	2322	c.2131delC	c.(2131-2133)ctgfs	p.L711fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.L650fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	711			L -> V (detected in an endometrial cancer sample). {ECO:0000269|PubMed:8075649}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.L711V(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCTGCCATTCTGGGGATTCT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Substitution - Missense(1)	endometrium(1)											67.0	71.0	69.0					16																	68857496		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2131delC	16.37:g.68857496delC	ENSP00000261769:p.Leu711fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L711fs	ENST00000261769.5	37	c.2131	CCDS10869.1	16																																																																																			CDH1	-	NULL	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	44	0.00	0	C	NM_004360		68857496	68857496	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	16	40.74	11	DEL	0.273	-
GPT2	84706	genome.wustl.edu	37	16	46918827	46918827	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr16:46918827C>T	ENST00000340124.4	+	2	312	c.200C>T	c.(199-201)cCc>cTc	p.P67L	GPT2_ENST00000440783.2_5'UTR	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	67					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GTGCGGGGACCCATCGTGCTC	0.711																																						dbGAP											0													9.0	14.0	12.0					16																	46918827		1588	2844	4432	-	-	-	SO:0001583	missense	0				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.200C>T	16.37:g.46918827C>T	ENSP00000345282:p.Pro67Leu		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.P67L	ENST00000340124.4	37	c.200	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.841667	0.97016	.	.	ENSG00000166123	ENST00000340124	T	0.41065	1.01	5.22	5.22	0.72569	Pyridoxal phosphate-dependent transferase, major domain (1);	0.053295	0.85682	N	0.000000	T	0.53530	0.1802	L	0.38733	1.17	0.80722	D	1	D	0.71674	0.998	P	0.62089	0.898	T	0.51663	-0.8677	10	0.44086	T	0.13	.	18.745	0.91789	0.0:1.0:0.0:0.0	.	67	Q8TD30	ALAT2_HUMAN	L	67	ENSP00000345282:P67L	ENSP00000345282:P67L	P	+	2	0	GPT2	45476328	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.669000	0.74462	2.434000	0.82447	0.313000	0.20887	CCC	GPT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000166123		0.711	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	15	0.00	0	C			46918827	46918827	+1	no_errors	ENST00000340124	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53602625	53602625	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chrX:53602625G>A	ENST00000342160.3	-	44	6465	c.6008C>T	c.(6007-6009)aCg>aTg	p.T2003M	HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2003					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCTGACTGCGTATCAAAGTC	0.458																																						dbGAP											0													111.0	87.0	95.0					X																	53602625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6008C>T	X.37:g.53602625G>A	ENSP00000340648:p.Thr2003Met		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T2003M	ENST00000342160.3	37	c.6008	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449154	0.26074	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37411	1.2;1.2	5.43	4.55	0.56014	.	0.844996	0.10359	N	0.684181	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	D;D	0.56521	0.958;0.976	B;B	0.41571	0.197;0.36	T	0.06935	-1.0799	10	0.45353	T	0.12	.	12.7868	0.57510	0.0:0.3067:0.6933:0.0	.	2003;2003	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	2003	ENSP00000340648:T2003M;ENSP00000262854:T2003M	ENSP00000262854:T2003M	T	-	2	0	HUWE1	53619350	0.951000	0.32395	0.464000	0.27143	0.881000	0.50899	5.027000	0.64109	1.049000	0.40321	0.600000	0.82982	ACG	HUWE1	-	NULL	ENSG00000086758		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	30	0.00	0	G	XM_497119		53602625	53602625	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.163	A
KANSL2	54934	genome.wustl.edu	37	12	49075811	49075811	+	Intron	SNP	T	T	G	rs2277365	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr12:49075811T>G	ENST00000420613.2	-	1	39				KANSL2_ENST00000357861.3_Intron|KANSL2_ENST00000550347.1_Silent_p.R52R|KANSL2_ENST00000553086.1_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											CATTTTGTCCTACGGCTCCAG	0.647													T|||	2177	0.434704	0.2413	0.4352	5008	,	,		15748	0.7728		0.2684	False		,,,				2504	0.5184					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.8+158A>C	12.37:g.49075811T>G			Q8N3B5|Q96CV0|Q9NX51	Silent	SNP	NULL	p.R52	ENST00000420613.2	37	c.154	CCDS44869.1	12																																																																																			KANSL2	-	NULL	ENSG00000139620		0.647	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	20	0.00	0	T	NM_017822		49075811	49075811	-1	no_errors	ENST00000550347	ensembl	human	putative	69_37n	silent	21	16.00	4	SNP	0.025	G
LILRA2	11027	genome.wustl.edu	37	19	55098805	55098805	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr19:55098805G>A	ENST00000251377.3	+	9	1577	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	LILRA2_ENST00000391738.3_Missense_Mutation_p.G482R|LILRA2_ENST00000251376.3_Missense_Mutation_p.G465R|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G453R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	482					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGATGCAGCCGGGAGGTGAAC	0.567																																						dbGAP											0													65.0	59.0	61.0					19																	55098805		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1444G>A	19.37:g.55098805G>A	ENSP00000251377:p.Gly482Arg		O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.G482R	ENST00000251377.3	37	c.1444	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	g	0.936	-0.711247	0.03230	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00532	7.02;7.02;6.81;6.75	2.4	-4.8	0.03190	.	5.029110	0.01103	N	0.005430	T	0.00210	0.0006	N	0.01122	-1.005	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.47100	-0.9143	10	0.13853	T	0.58	.	1.6277	0.02726	0.3518:0.1452:0.3587:0.1443	.	453;482;465	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	R	482;482;465;453	ENSP00000251377:G482R;ENSP00000375618:G482R;ENSP00000251376:G465R;ENSP00000375617:G453R	ENSP00000251376:G465R	G	+	1	0	LILRA2	59790617	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.955000	0.01523	-2.034000	0.00924	-2.365000	0.00237	GGG	LILRA2	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239998		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	44	0.00	0	G			55098805	55098805	+1	no_errors	ENST00000251377	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.000	A
LRRC37A6P	387646	genome.wustl.edu	37	10	27540561	27540561	+	lincRNA	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr10:27540561C>T	ENST00000574842.1	+	0	2004				LRRC37A6P_ENST00000284414.4_RNA																							AGGCGGCCCCCGGGGGTTAGA	0.612																																						dbGAP											0																																										-	-	-			0																															10.37:g.27540561C>T				RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.612	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	30	0.00	0	C			27540561	27540561	-1	no_errors	ENST00000574795	ensembl	human	known	69_37n	rna	36	25.00	12	SNP	0.002	T
MAP3K5	4217	genome.wustl.edu	37	6	137019648	137019648	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr6:137019648T>A	ENST00000359015.4	-	4	1145	c.785A>T	c.(784-786)aAg>aTg	p.K262M		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	262					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTGCCACCTTCAAAAGTTG	0.393																																						dbGAP											0													85.0	78.0	80.0					6																	137019648		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.785A>T	6.37:g.137019648T>A	ENSP00000351908:p.Lys262Met		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K262M	ENST00000359015.4	37	c.785	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399068	0.83120	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11277	2.79	5.72	5.72	0.89469	.	0.103731	0.64402	D	0.000003	T	0.24314	0.0589	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.984;1.0;0.999	D;D;D	0.72982	0.923;0.979;0.934	T	0.01416	-1.1360	10	0.87932	D	0	.	16.0016	0.80297	0.0:0.0:0.0:1.0	.	342;107;262	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	M	262;342	ENSP00000351908:K262M	ENSP00000351908:K262M	K	-	2	0	MAP3K5	137061341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.575000	0.60908	2.183000	0.69458	0.533000	0.62120	AAG	MAP3K5	-	NULL	ENSG00000197442		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	34	0.00	0	T			137019648	137019648	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	1.000	A
MEG3	55384	genome.wustl.edu	37	14	101300843	101300843	+	RNA	SNP	G	G	A	rs77658190	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr14:101300843G>A	ENST00000554041.1	-	0	214																											GAGGGGTCTCGTTGCTCCCTT	0.527													g|||	939	0.1875	0.0643	0.0893	5008	,	,		18511	0.4266		0.1004	False		,,,				2504	0.2669					dbGAP											0																																										-	-	-			0																															14.37:g.101300843G>A				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.527	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	37	0.00	0	G			101300843	101300843	+1	no_errors	ENST00000398461	ensembl	human	known	69_37n	rna	27	12.90	4	SNP	0.000	A
MGAT4A	11320	genome.wustl.edu	37	2	99279812	99279812	+	Intron	SNP	C	C	A	rs76878531	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr2:99279812C>A	ENST00000264968.3	-	4	767				MGAT4A_ENST00000409391.1_Intron|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S4I|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Intron			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						ACCTGTAATACTGTAATTCAT	0.284													C|||	234	0.0467252	0.0151	0.0692	5008	,	,		16940	0.0853		0.006	False		,,,				2504	0.0757					dbGAP											0													39.0	36.0	37.0					2																	99279812		692	1576	2268	-	-	-	SO:0001627	intron_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.404-170G>T	2.37:g.99279812C>A			B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.S4I	ENST00000264968.3	37	c.11	CCDS2036.1	2	86	0.039377289377289376	11	0.022357723577235773	26	0.0718232044198895	43	0.07517482517482517	6	0.0079155672823219	C	9.489	1.100217	0.20552	.	.	ENSG00000071073	ENST00000414521	T	0.24350	1.86	4.21	-0.106	0.13596	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.25916	-1.0118	9	0.87932	D	0	.	2.7487	0.05274	0.1667:0.3636:0.3607:0.109	.	4;4	E9PEN2;B4E2R6	.;.	I	4	ENSP00000404889:S4I	ENSP00000404889:S4I	S	-	2	0	MGAT4A	98646244	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.099000	0.11007	-0.135000	0.11495	-0.182000	0.12963	AGT	MGAT4A	-	NULL	ENSG00000071073		0.284	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	18	0.00	0	C	NM_012214		99279812	99279812	-1	no_errors	ENST00000414521	ensembl	human	known	69_37n	missense	10	23.08	3	SNP	0.000	A
MIR654	724024	genome.wustl.edu	37	14	101507721	101507721	+	RNA	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr14:101507721C>T	ENST00000385199.1	+	0	81				AL132709.2_ENST00000579587.1_RNA|MIR300_ENST00000401138.1_RNA|MIR1185-1_ENST00000408598.1_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR376C_ENST00000607441.1_RNA|MIR376A1_ENST00000584362.1_RNA	NR_030390.1				microRNA 654																		GAGAGGTAATCCTTCACGCAT	0.498																																						dbGAP											0													204.0	178.0	186.0					14																	101507721		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101507721C>T				RNA	SNP	-	NULL	ENST00000385199.1	37	NULL		14																																																																																			MIR300	-	-	ENSG00000215957		0.498	MIR654-201	KNOWN	basic	miRNA	MIR300	HGNC	miRNA		34	0.00	0	C	NR_030390		101507721	101507721	+1	no_errors	ENST00000401138	ensembl	human	known	69_37n	rna	20	39.39	13	SNP	0.002	T
MIR3689A	100500846	genome.wustl.edu	37	9	137742018	137742018	+	RNA	SNP	A	A	G	rs79438120		TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr9:137742018A>G	ENST00000578854.1	-	0	0				AL603650.3_ENST00000582742.1_RNA|MIR3689D1_ENST00000579706.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689D2_ENST00000580187.1_RNA|MIR3689B_ENST00000581772.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689C_ENST00000581239.1_RNA|AL603650.2_ENST00000581079.1_RNA|MIR3689E_ENST00000582479.1_RNA	NR_037460.1				microRNA 3689a																		AGGAACCACAATATCACACCT	0.612																																						dbGAP											0																																										-	-	-			0					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137742018A>G				RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			MIR3689B	-	-	ENSG00000264163		0.612	MIR3689A-201	KNOWN	basic	miRNA	MIR3689B	HGNC	miRNA		21	0.00	0	A	NR_037460		137742018	137742018	-1	no_errors	ENST00000581772	ensembl	human	known	69_37n	rna	25	21.88	7	SNP	0.000	G
SNED1	25992	genome.wustl.edu	37	2	242026649	242026649	+	Intron	SNP	A	A	G	rs13411556	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr2:242026649A>G	ENST00000310397.8	+	30	4121				SNED1_ENST00000342631.6_Intron|SNED1_ENST00000405547.3_Intron|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TATGTTAGACATTTTAATACA	0.338													A|||	949	0.189497	0.3729	0.098	5008	,	,		21230	0.2073		0.1024	False		,,,				2504	0.0777					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4122-158A>G	2.37:g.242026649A>G			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	RNA	SNP	-	NULL	ENST00000310397.8	37	NULL	CCDS46562.1	2																																																																																			MTERFD2	-	-	ENSG00000122085		0.338	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323935.2	22	0.00	0	A	XM_059482		242026649	242026649	-1	no_errors	ENST00000455202	ensembl	human	known	69_37n	rna	12	20.00	3	SNP	0.000	G
MYH8	4626	genome.wustl.edu	37	17	10299647	10299647	+	Splice_Site	SNP	C	C	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr17:10299647C>A	ENST00000403437.2	-	33	4747	c.4653G>T	c.(4651-4653)gaG>gaT	p.E1551D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1551					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAATATGTACCTCTGCTTCCT	0.338									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													148.0	130.0	136.0					17																	10299647		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4653+1G>T	17.37:g.10299647C>A			Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1551D	ENST00000403437.2	37	c.4653	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975348	0.74360	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90324	-2.65	5.26	3.29	0.37713	Myosin tail (1);	0.000000	0.41823	U	0.000805	D	0.95456	0.8524	M	0.90705	3.14	0.48830	D	0.999716	D	0.76494	0.999	D	0.73380	0.98	D	0.95280	0.8385	9	.	.	.	.	12.0145	0.53307	0.0:0.8601:0.0:0.1399	.	1551	P13535	MYH8_HUMAN	D	1551	ENSP00000384330:E1551D	.	E	-	3	2	MYH8	10240372	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.722000	0.61958	0.808000	0.34231	-0.143000	0.13931	GAG	MYH8	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000133020		0.338	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	62	0.00	0	C	NM_002472	Missense_Mutation	10299647	10299647	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	A
OCSTAMP	128506	genome.wustl.edu	37	20	45170213	45170213	+	Silent	SNP	A	A	G	rs847078	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr20:45170213A>G	ENST00000279028.2	-	3	1414	c.1401T>C	c.(1399-1401)tcT>tcC	p.S467S		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	467					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						TGGGGACGCAAGAAGGATCCC	0.637													G|||	1216	0.242812	0.5386	0.0908	5008	,	,		15461	0.1667		0.1014	False		,,,				2504	0.1748					dbGAP											0													67.0	68.0	68.0					20																	45170213		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.1401T>C	20.37:g.45170213A>G				Silent	SNP	pfam_DC_STAMP-like	p.S467	ENST00000279028.2	37	c.1401	CCDS54468.1	20																																																																																			OCSTAMP	-	NULL	ENSG00000149635		0.637	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCSTAMP	HGNC	protein_coding	OTTHUMT00000079573.2	15	0.00	0	A	XM_496476		45170213	45170213	-1	no_errors	ENST00000279028	ensembl	human	known	69_37n	silent	10	54.55	12	SNP	0.000	G
OR51A7	119687	genome.wustl.edu	37	11	4929467	4929467	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr11:4929467G>T	ENST00000359350.4	+	1	868	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAACCCCATTGTGTACTGTGT	0.428																																						dbGAP											0													137.0	129.0	132.0					11																	4929467		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.868G>T	11.37:g.4929467G>T	ENSP00000352305:p.Val290Leu		Q6IFH8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V290L	ENST00000359350.4	37	c.868	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407172	0.25378	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.36520	1.25	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	T	0.50735	0.1633	M	0.85041	2.73	0.28100	N	0.931461	B	0.31581	0.329	B	0.40375	0.327	T	0.55970	-0.8056	10	0.72032	D	0.01	.	13.6141	0.62097	0.0:0.1567:0.8433:0.0	.	290	Q8NH64	O51A7_HUMAN	L	290;290;279	ENSP00000352305:V290L	ENSP00000352305:V290L	V	+	1	0	OR51A7	4886043	0.602000	0.26916	1.000000	0.80357	0.073000	0.16967	1.037000	0.30241	2.596000	0.87737	0.655000	0.94253	GTG	OR51A7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000176895		0.428	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	36	0.00	0	G	NM_001004749		4929467	4929467	+1	no_errors	ENST00000359350	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	36	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2147330	2147330	+	Silent	SNP	G	G	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr16:2147330G>A	ENST00000262304.4	-	33	10603	c.10395C>T	c.(10393-10395)ttC>ttT	p.F3465F	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.F3464F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3465					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGATGCTGAGAAGGATTTGG	0.647																																						dbGAP											0													31.0	35.0	33.0					16																	2147330		2196	4297	6493	-	-	-	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10395C>T	16.37:g.2147330G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.F3465	ENST00000262304.4	37	c.10395	CCDS32369.1	16																																																																																			PKD1	-	NULL	ENSG00000008710		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	46	0.00	0	G			2147330	2147330	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	silent	58	30.12	25	SNP	0.905	A
PRAMEF4	400735	genome.wustl.edu	37	1	12939782	12939782	+	Silent	SNP	A	A	G	rs200129543		TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr1:12939782A>G	ENST00000235349.5	-	4	1090	c.1020T>C	c.(1018-1020)ctT>ctC	p.L340L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	340					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAGGCACAAGACTGTAAT	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1020T>C	1.37:g.12939782A>G			Q5LJB5	Silent	SNP	NULL	p.L340	ENST00000235349.5	37	c.1020	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.473	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	39	0.00	0	A	NM_001009611		12939782	12939782	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	silent	44	12.00	6	SNP	0.000	G
RPS6KL1	83694	genome.wustl.edu	37	14	75375556	75375556	+	Silent	SNP	T	T	G			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr14:75375556T>G	ENST00000555647.1	-	10	1727	c.1440A>C	c.(1438-1440)ggA>ggC	p.G480G	RPS6KL1_ENST00000557413.1_Silent_p.G480G|RPS6KL1_ENST00000354625.2_Silent_p.G449G|RPS6KL1_ENST00000358328.4_Silent_p.G480G|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CACTCACCATTCCCGTCAGCA	0.592																																						dbGAP											0													169.0	120.0	136.0					14																	75375556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1440A>C	14.37:g.75375556T>G			A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.N67H	ENST00000555647.1	37	c.199	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	T	8.840	0.942135	0.18281	.	.	ENSG00000198208	ENST00000553971	.	.	.	4.91	0.748	0.18376	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58561	-0.7615	4	.	.	.	-4.4307	12.4597	0.55725	0.0:0.0:0.4013:0.5987	.	.	.	.	H	67	.	.	N	-	1	0	RPS6KL1	74445309	0.998000	0.40836	0.482000	0.27366	0.138000	0.21146	1.022000	0.30052	0.272000	0.22027	0.533000	0.62120	AAT	RPS6KL1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000198208		0.592	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	15	0.00	0	T			75375556	75375556	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553971	ensembl	human	novel	69_37n	missense	12	45.45	10	SNP	0.897	G
SERPINA4	5267	genome.wustl.edu	37	14	95029840	95029840	+	Silent	SNP	G	G	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr14:95029840G>T	ENST00000557004.1	+	2	442	c.21G>T	c.(19-21)ctG>ctT	p.L7L	SERPINA4_ENST00000298841.5_Silent_p.L7L|SERPINA4_ENST00000555095.1_Silent_p.L7L|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGACTACCTGCTCCTCCTGC	0.547																																						dbGAP											0													79.0	80.0	79.0					14																	95029840		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.21G>T	14.37:g.95029840G>T			Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L7	ENST00000557004.1	37	c.21	CCDS9927.1	14																																																																																			SERPINA4	-	superfamily_Sepin_dom	ENSG00000100665		0.547	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	30	0.00	0	G	NM_006215		95029840	95029840	+1	no_errors	ENST00000298841	ensembl	human	known	69_37n	silent	17	15.00	3	SNP	0.199	T
SGSM1	129049	genome.wustl.edu	37	22	25280109	25280109	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr22:25280109G>A	ENST00000400359.4	+	16	1757	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	SGSM1_ENST00000400358.4_Missense_Mutation_p.D529N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	584						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTGCCCTGCGATGCTGGACA	0.577																																						dbGAP											0													68.0	69.0	69.0					22																	25280109		2054	4189	6243	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1750G>A	22.37:g.25280109G>A	ENSP00000383212:p.Asp584Asn		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.D584N	ENST00000400359.4	37	c.1750	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517395	0.64634	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08102	3.13;3.13	5.24	4.22	0.49857	.	0.087083	0.85682	D	0.000000	T	0.14570	0.0352	L	0.57536	1.79	0.80722	D	1	P;D;P;D	0.61697	0.519;0.99;0.845;0.971	B;P;B;B	0.51701	0.057;0.677;0.338;0.439	T	0.01228	-1.1412	10	0.46703	T	0.11	-12.4918	8.9388	0.35718	0.0863:0.1533:0.7604:0.0	.	529;645;662;584	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	N	645;529;584	ENSP00000383211:D529N;ENSP00000383212:D584N	ENSP00000383211:D529N	D	+	1	0	SGSM1	23610109	0.975000	0.34042	0.972000	0.41901	0.863000	0.49368	4.139000	0.58024	1.332000	0.45431	-0.195000	0.12781	GAT	SGSM1	-	NULL	ENSG00000167037		0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	32	0.00	0	G	XM_059318		25280109	25280109	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	A
SLC35F1	222553	genome.wustl.edu	37	6	118475629	118475629	+	Silent	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr6:118475629C>T	ENST00000360388.4	+	2	396	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	65					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTCTGTGGCCCTAGGCCAGG	0.423																																						dbGAP											0													173.0	164.0	167.0					6																	118475629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.195C>T	6.37:g.118475629C>T			E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	pfam_DUF914_euk,pfam_DMT	p.A65	ENST00000360388.4	37	c.195	CCDS34524.1	6																																																																																			SLC35F1	-	pfam_DUF914_euk	ENSG00000196376		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	49	0.00	0	C	XM_167044		118475629	118475629	+1	no_errors	ENST00000360388	ensembl	human	known	69_37n	silent	32	33.33	16	SNP	0.996	T
SLCO1B7	338821	genome.wustl.edu	37	12	21168661	21168661	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr12:21168661G>T	ENST00000421593.2	+	1	32	c.32G>T	c.(31-33)aGa>aTa	p.R11I	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATAGAAAGGAGATTTGAGATA	0.323																																						dbGAP											0													73.0	74.0	73.0					12																	21168661		2155	4283	6438	-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.32G>T	12.37:g.21168661G>T	ENSP00000394168:p.Arg11Ile		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R11I	ENST00000421593.2	37	c.32	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550758	0.45383	.	.	ENSG00000205754	ENST00000421593	T	0.57436	0.4	2.68	2.68	0.31781	.	0.047997	0.85682	D	0.000000	T	0.78635	0.4314	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85046	0.0926	10	0.87932	D	0	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	11	G3V0H7	.	I	11	ENSP00000394168:R11I	ENSP00000394168:R11I	R	+	2	0	SLCO1B7	21059928	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	6.549000	0.73900	1.476000	0.48215	0.407000	0.27541	AGA	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.323	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	32	0.00	0	G	NM_001009562		21168661	21168661	+1	no_errors	ENST00000421593	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	T
TRBV29-1	28558	genome.wustl.edu	37	7	142448463	142448463	+	RNA	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr7:142448463C>T	ENST00000422143.2	+	0	124									T cell receptor beta variable 29-1																		GTGCTGTCATCTCTCAAAAGC	0.512																																						dbGAP											0													115.0	113.0	113.0					7																	142448463		1954	4149	6103	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448463C>T				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I19	ENST00000422143.2	37	c.57		7																																																																																			TRBV29-1	-	pfscan_Ig-like	ENSG00000232869		0.512	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV29-1	HGNC	TR_V_gene	OTTHUMT00000352510.1	57	0.00	0	C	NG_001333		142448463	142448463	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000422143	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	0.067	T
TSTD2	158427	genome.wustl.edu	37	9	100368543	100368543	+	Splice_Site	SNP	C	C	T			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr9:100368543C>T	ENST00000341170.4	-	7	1218	c.836G>A	c.(835-837)gGa>gAa	p.G279E	TSTD2_ENST00000354801.2_Splice_Site_p.G19E	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	279										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TAAATGGATTCCTAAAACCAA	0.333																																						dbGAP											0													51.0	54.0	53.0					9																	100368543		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.836-1G>A	9.37:g.100368543C>T			A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.G279E	ENST00000341170.4	37	c.836	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866620	0.72065	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.30182	1.54;1.54;1.54	5.33	5.33	0.75918	Rhodanese-like (2);	0.049573	0.85682	D	0.000000	T	0.65407	0.2688	M	0.93375	3.41	0.48135	D	0.999597	D;D	0.89917	0.993;1.0	P;D	0.79784	0.861;0.993	T	0.73764	-0.3880	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8579:0.1421:0.0	.	53;279	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	E	53;279;19;19	ENSP00000342499:G279E;ENSP00000364308:G19E;ENSP00000346856:G19E	ENSP00000342499:G279E	G	-	2	0	TSTD2	99408364	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.220000	0.65267	2.882000	0.98803	0.655000	0.94253	GGA	TSTD2	-	superfamily_Rhodanese-like_dom	ENSG00000136925		0.333	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	47	0.00	0	C	NM_139246	Missense_Mutation	100368543	100368543	-1	no_errors	ENST00000341170	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50782481	50782481	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr15:50782481A>C	ENST00000396444.3	+	14	2331	c.1993A>C	c.(1993-1995)Acc>Ccc	p.T665P	USP8_ENST00000307179.4_Missense_Mutation_p.T665P|USP8_ENST00000425032.3_Missense_Mutation_p.T559P|USP8_ENST00000433963.1_Missense_Mutation_p.T665P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	665					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AATCACTGGAACCTTTCGTTA	0.378																																						dbGAP											0													148.0	143.0	145.0					15																	50782481		2196	4294	6490	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1993A>C	15.37:g.50782481A>C	ENSP00000379721:p.Thr665Pro		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.T665P	ENST00000396444.3	37	c.1993	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655881	0.88056	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.20463	2.11;2.11;2.11;2.07	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69824	0.957;0.966	T	0.02829	-1.1105	10	0.32370	T	0.25	-13.9444	15.9104	0.79470	1.0:0.0:0.0:0.0	.	559;665	B4DKA8;P40818	.;UBP8_HUMAN	P	665;665;665;559	ENSP00000379721:T665P;ENSP00000405537:T665P;ENSP00000302239:T665P;ENSP00000412682:T559P	ENSP00000302239:T665P	T	+	1	0	USP8	48569773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.673000	0.91186	2.210000	0.71456	0.533000	0.62120	ACC	USP8	-	superfamily_WW_Rsp5_WWP	ENSG00000138592		0.378	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	21	0.00	0	A	NM_005154		50782481	50782481	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	C
VEGFC	7424	genome.wustl.edu	37	4	177713372	177713373	+	In_Frame_Ins	INS	-	-	GGC			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr4:177713372_177713373insGGC	ENST00000280193.2	-	1	508_509	c.93_94insGCC	c.(91-96)gccttc>gccGCCttc	p.31_32insA		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	31					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGGACTCGAAggcggcggcgg	0.688																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.91_93dupGCC	4.37:g.177713379_177713381dupGGC	ENSP00000280193:p.Ala31_Ala31dup		B2R9Q8	In_Frame_Ins	INS	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.31in_frame_insA	ENST00000280193.2	37	c.94_93	CCDS43285.1	4																																																																																			VEGFC	-	NULL	ENSG00000150630		0.688	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	18	0.00	0	-	NM_005429		177713372	177713373	-1	no_errors	ENST00000280193	ensembl	human	known	69_37n	in_frame_ins	29	30.95	13	INS	0.904:0.984	GGC
YY1AP1	55249	genome.wustl.edu	37	1	155644863	155644863	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr1:155644863G>A	ENST00000295566.4	-	6	570	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	YY1AP1_ENST00000347088.5_Missense_Mutation_p.H117Y|YY1AP1_ENST00000355499.4_Missense_Mutation_p.H117Y|YY1AP1_ENST00000361831.5_Missense_Mutation_p.H106Y|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.H106Y|YY1AP1_ENST00000368340.5_Missense_Mutation_p.H255Y|YY1AP1_ENST00000368339.5_Missense_Mutation_p.H255Y|YY1AP1_ENST00000359205.5_Missense_Mutation_p.H106Y|YY1AP1_ENST00000311573.5_Missense_Mutation_p.H106Y|YY1AP1_ENST00000404643.1_Missense_Mutation_p.H117Y|YY1AP1_ENST00000535662.1_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Missense_Mutation_p.H117Y|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.H117Y|YY1AP1_ENST00000405763.3_Missense_Mutation_p.H255Y	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	183					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCAAGAAGGTGGATTTGTGTC	0.423																																						dbGAP											0													117.0	117.0	117.0					1																	155644863		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.547C>T	1.37:g.155644863G>A	ENSP00000295566:p.His183Tyr		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.H255Y	ENST00000295566.4	37	c.763	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	G	6.432	0.447932	0.12223	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.26810	1.78;1.76;1.77;1.76;1.78;1.71;1.73;1.76;1.77;1.72;1.74	3.7	1.76	0.24704	.	0.246162	0.40385	N	0.001115	T	0.14570	0.0352	N	0.20986	0.625	0.28943	N	0.890844	B;B;B;B;B;D;D	0.76494	0.004;0.032;0.004;0.146;0.004;0.999;0.997	B;B;B;B;B;D;D	0.85130	0.019;0.065;0.006;0.084;0.006;0.997;0.989	T	0.11446	-1.0587	10	0.21540	T	0.41	.	7.6491	0.28337	0.3033:0.0:0.6967:0.0	.	117;183;255;255;183;117;255	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	Y	106;117;106;117;106;255;183;117;106;117;255;255;117;106;117	ENSP00000352134:H106Y;ENSP00000347686:H117Y;ENSP00000311138:H106Y;ENSP00000316079:H117Y;ENSP00000355298:H106Y;ENSP00000357324:H255Y;ENSP00000295566:H183Y;ENSP00000357314:H117Y;ENSP00000385791:H106Y;ENSP00000385390:H117Y;ENSP00000357323:H255Y	ENSP00000295566:H183Y	H	-	1	0	YY1AP1	153911487	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	2.548000	0.45794	0.329000	0.23460	-0.259000	0.10710	CAC	YY1AP1	-	NULL	ENSG00000163374		0.423	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	50	0.00	0	G	NM_139118		155644863	155644863	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	missense	51	34.62	27	SNP	1.000	A
ZNF252P	286101	genome.wustl.edu	37	8	146228779	146228779	+	RNA	SNP	T	T	A	rs77308683	byFrequency	TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr8:146228779T>A	ENST00000426361.2	-	0	0				ZNF252P-AS1_ENST00000527067.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						CCTATTGCGGTGGAGCTGGAG	0.617													T|||	976	0.194888	0.2171	0.2911	5008	,	,		16051	0.3036		0.0706	False		,,,				2504	0.1125					dbGAP											0																																										-	-	-			0			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146228779T>A				RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8	436	0.19963369963369965	111	0.22560975609756098	92	0.2541436464088398	177	0.3094405594405594	56	0.07387862796833773	t	7.451	0.642616	0.14451	.	.	ENSG00000255559	ENST00000527067	.	.	.	0.676	0.676	0.17958	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	D	0.69078	0.997	D	0.68483	0.958	T	0.11203	-1.0597	4	.	.	.	.	.	.	.	.	136	Q0IIN9	CH077_HUMAN	E	136	.	.	V	+	2	0	C8orf77	146199583	0.117000	0.22190	0.095000	0.20976	0.029000	0.11900	0.467000	0.22035	0.520000	0.28426	0.383000	0.25322	GTG	ZNF252P-AS1	-	-	ENSG00000255559		0.617	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P-AS1	HGNC	pseudogene	OTTHUMT00000451422.1	29	0.00	0	T	NR_023392		146228779	146228779	+1	no_errors	ENST00000527067	ensembl	human	known	69_37n	rna	31	11.43	4	SNP	0.848	A
ZNF540	163255	genome.wustl.edu	37	19	38090640	38090640	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3J1-01A-11D-A20S-09	TCGA-A7-A3J1-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011	bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea	g.chr19:38090640C>A	ENST00000592533.1	+	3	455	c.123C>A	c.(121-123)aaC>aaA	p.N41K	ZNF540_ENST00000589117.1_Missense_Mutation_p.N41K|ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000316433.4_Missense_Mutation_p.N41K|ZNF540_ENST00000343599.5_Missense_Mutation_p.N41K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATAATAACTTGGTCTCAC	0.388																																						dbGAP											0													167.0	173.0	171.0					19																	38090640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.123C>A	19.37:g.38090640C>A	ENSP00000466274:p.Asn41Lys		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N41K	ENST00000592533.1	37	c.123	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577507	0.45902	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.02579	4.24;4.24	2.04	-1.87	0.07737	Krueppel-associated box (4);	.	.	.	.	T	0.20901	0.0503	H	0.98980	4.39	0.09310	N	1	D;D	0.62365	0.988;0.991	D;D	0.68765	0.932;0.96	T	0.03148	-1.1067	9	0.87932	D	0	.	5.0199	0.14356	0.0:0.4125:0.0:0.5875	.	41;41	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	K	41	ENSP00000324598:N41K;ENSP00000343768:N41K	ENSP00000324598:N41K	N	+	3	2	ZNF540	42782480	0.000000	0.05858	0.003000	0.11579	0.594000	0.36715	-0.355000	0.07671	-0.271000	0.09272	0.305000	0.20034	AAC	ZNF540	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171817		0.388	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	27	0.00	0	C	NM_152606		38090640	38090640	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.008	A
