#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
BAHCC1	57597	genome.wustl.edu	37	17	79422327	79422327	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr17:79422327G>C	ENST00000307745.7	+	19	4480	c.4480G>C	c.(4480-4482)Gag>Cag	p.E1494Q																								GCTGTGTGCGGAGCTGCGAGG	0.697																																						dbGAP											0													19.0	30.0	26.0					17																	79422327		2005	3951	5956	-	-	-	SO:0001583	missense	0																														ENST00000307745.7:c.4480G>C	17.37:g.79422327G>C	ENSP00000303486:p.Glu1494Gln			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1494Q	ENST00000307745.7	37	c.4480		17	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945266	0.53079	.	.	ENSG00000171282	ENST00000307745	T	0.50548	0.74	4.94	4.94	0.65067	.	0.084754	0.47852	D	0.000210	T	0.67543	0.2904	M	0.77103	2.36	0.40849	D	0.983733	D;D	0.89917	0.999;1.0	D;D	0.85130	0.922;0.997	T	0.68640	-0.5355	10	0.36615	T	0.2	.	13.6555	0.62336	0.0:0.0:1.0:0.0	.	1494;1494	Q9P281;F8WBW8	BAHC1_HUMAN;.	Q	1494	ENSP00000303486:E1494Q	ENSP00000303486:E1494Q	E	+	1	0	AC110285.1	77036922	1.000000	0.71417	0.925000	0.36789	0.017000	0.09413	6.414000	0.73318	2.296000	0.77279	0.561000	0.74099	GAG	BAHCC1	-	NULL	ENSG00000171282		0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		15	0.00	0	G			79422327	79422327	+1	no_errors	ENST00000307745	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.986	C
C19orf40	91442	genome.wustl.edu	37	19	33464469	33464469	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr19:33464469G>A	ENST00000588258.1	+	3	353		c.e3+1		CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590281.1_Splice_Site|C19orf40_ENST00000589646.1_Splice_Site|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000591863.1_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40						DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTTAGAAATGTAAGTATTAg	0.502								Direct reversal of damage																														dbGAP											0													96.0	91.0	93.0					19																	33464469		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.243+1G>A	19.37:g.33464469G>A			B3KY46|Q8WUJ7|Q96FX6	Splice_Site	SNP	-	e2+1	ENST00000588258.1	37	c.243+1	CCDS12426.1	19	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628890	0.67015	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2792	0.87123	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf40	38156309	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.719000	0.91436	2.250000	0.74265	0.484000	0.47621	.	C19orf40	-	-	ENSG00000131944		0.502	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf40	HGNC	protein_coding	OTTHUMT00000450823.2	83	0.00	0	G	NM_152266	Intron	33464469	33464469	+1	no_errors	ENST00000588258	ensembl	human	known	69_37n	splice_site	76	23.23	23	SNP	1.000	A
CLEC4E	26253	genome.wustl.edu	37	12	8692538	8692539	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr12:8692538_8692539delCT	ENST00000299663.3	-	2	207_208	c.42_43delAG	c.(40-45)agaggafs	p.G15fs	CLEC4E_ENST00000446457.2_Frame_Shift_Del_p.G15fs|CLEC4E_ENST00000545274.1_Frame_Shift_Del_p.G15fs	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	15					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAGAAGCATCCTCTCTCTGTAG	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.42_43delAG	12.37:g.8692544_8692545delCT	ENSP00000299663:p.Gly15fs		B2R6Q6	Frame_Shift_Del	DEL	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G15fs	ENST00000299663.3	37	c.43_42	CCDS8594.1	12																																																																																			CLEC4E	-	NULL	ENSG00000166523		0.406	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	HGNC	protein_coding	OTTHUMT00000400566.1	106	0.00	0	CT	NM_014358		8692538	8692539	-1	no_errors	ENST00000299663	ensembl	human	known	69_37n	frame_shift_del	53	12.50	8	DEL	0.000:0.000	-
CROCCP2	84809	genome.wustl.edu	37	1	16950807	16950807	+	lincRNA	SNP	C	C	T	rs11590427	byFrequency	TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:16950807C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGCCTTCACGCTCCGCAGG	0.692													.|||	1027	0.205072	0.2587	0.1196	5008	,	,		59386	0.2748		0.162	False		,,,				2504	0.1656					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950807C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.692	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	14	0.00	0	C	NR_026752.1		16950807	16950807	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	19	26.92	7	SNP	0.483	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19263493	19263493	+	Missense_Mutation	SNP	C	C	T	rs199989662		TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr8:19263493C>T	ENST00000454498.2	-	10	2410	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R466Q|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R466Q|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R466Q|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R466Q	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	466					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CACAGGCGTCCGTACCACTAT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17798	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													150.0	129.0	136.0					8																	19263493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1397G>A	8.37:g.19263493C>T	ENSP00000411816:p.Arg466Gln		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R466Q	ENST00000454498.2	37	c.1397	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695850	0.88830	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75935	-0.3142	10	0.87932	D	0	-37.7898	18.6548	0.91448	0.0:1.0:0.0:0.0	.	466	Q8TDX6	CGAT1_HUMAN	Q	466	ENSP00000411816:R466Q;ENSP00000330805:R466Q;ENSP00000310891:R466Q;ENSP00000429809:R466Q;ENSP00000442155:R466Q	ENSP00000310891:R466Q	R	-	2	0	CSGALNACT1	19307773	1.000000	0.71417	0.966000	0.40874	0.222000	0.24845	7.420000	0.80191	2.755000	0.94549	0.591000	0.81541	CGG	CSGALNACT1	-	pfam_Chond_GalNAc	ENSG00000147408		0.567	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	74	0.00	0	C	NM_018371		19263493	19263493	-1	no_errors	ENST00000311540	ensembl	human	known	69_37n	missense	34	52.11	37	SNP	1.000	T
CTSV	1515	genome.wustl.edu	37	9	99798887	99798887	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr9:99798887C>G	ENST00000259470.5	-	5	788	c.539G>C	c.(538-540)gGt>gCt	p.G180A	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Missense_Mutation_p.G180A	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	180					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CATGAAGCCACCATTGCAGCC	0.512																																						dbGAP											0													97.0	85.0	89.0					9																	99798887		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.539G>C	9.37:g.99798887C>G	ENSP00000259470:p.Gly180Ala		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G180A	ENST00000259470.5	37	c.539	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216244	0.58452	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.45276	0.9;0.9	3.8	3.8	0.43715	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85724	0.1327	9	.	.	.	.	13.9668	0.64213	0.0:1.0:0.0:0.0	.	180;180	B2R717;O60911	.;CATL2_HUMAN	A	180	ENSP00000259470:G180A;ENSP00000445052:G180A	.	G	-	2	0	CTSL2	98838708	1.000000	0.71417	0.974000	0.42286	0.255000	0.26057	7.146000	0.77373	2.444000	0.82710	0.555000	0.69702	GGT	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000136943		0.512	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	150	0.00	0	C	NM_001333		99798887	99798887	-1	no_errors	ENST00000259470	ensembl	human	known	69_37n	missense	126	20.13	32	SNP	1.000	G
DEPDC7	91614	genome.wustl.edu	37	11	33047294	33047294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr11:33047294C>T	ENST00000241051.3	+	2	255	c.163C>T	c.(163-165)Cga>Tga	p.R55*	DEPDC7_ENST00000311388.3_Nonsense_Mutation_p.R46*	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	55	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AGTGAAAAAACGAAGGCACCG	0.398																																						dbGAP											0													161.0	152.0	155.0					11																	33047294		1909	4131	6040	-	-	-	SO:0001587	stop_gained	0				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.163C>T	11.37:g.33047294C>T	ENSP00000241051:p.Arg55*		G5E941|Q8N602|Q8NCU9|Q9UGK5	Nonsense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R55*	ENST00000241051.3	37	c.163	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.371382	0.98241	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	.	.	.	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4	10.3079	0.43691	0.1341:0.7984:0.0:0.0674	.	.	.	.	X	55;46	.	ENSP00000241051:R55X	R	+	1	2	DEPDC7	33003870	0.995000	0.38212	0.477000	0.27303	0.994000	0.84299	1.694000	0.37752	1.568000	0.49683	0.561000	0.74099	CGA	DEPDC7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000121690		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	HGNC	protein_coding	OTTHUMT00000388655.1	214	0.00	0	C	NM_139160		33047294	33047294	+1	no_errors	ENST00000241051	ensembl	human	known	69_37n	nonsense	103	32.24	49	SNP	0.980	T
EPHB2	2048	genome.wustl.edu	37	1	23222000	23222000	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:23222000C>T	ENST00000400191.3	+	8	1645	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	EPHB2_ENST00000374630.3_Missense_Mutation_p.L543F|EPHB2_ENST00000374632.3_Missense_Mutation_p.L543F|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.L538F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	543					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GAAGTTGCCACTCATCATCGG	0.587																																						dbGAP											0													141.0	121.0	128.0					1																	23222000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1627C>T	1.37:g.23222000C>T	ENSP00000383053:p.Leu543Phe		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L543F	ENST00000400191.3	37	c.1627		1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706448	0.68615	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	4.84	4.84	0.62591	.	0.353728	0.26784	N	0.022518	T	0.21801	0.0525	M	0.76002	2.32	0.80722	D	1	B;B;B	0.12630	0.006;0.003;0.005	B;B;B	0.20384	0.02;0.02;0.029	T	0.03818	-1.1001	10	0.62326	D	0.03	.	16.6767	0.85281	0.0:1.0:0.0:0.0	.	543;561;543	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	F	543;543;543;538	ENSP00000363761:L543F;ENSP00000383053:L543F;ENSP00000363763:L543F;ENSP00000363758:L538F	ENSP00000363758:L538F	L	+	1	0	EPHB2	23094587	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	7.474000	0.81024	2.506000	0.84524	0.561000	0.74099	CTC	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000133216		0.587	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	153	0.00	0	C	NM_017449		23222000	23222000	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	missense	114	31.33	52	SNP	1.000	T
FAM71F2	346653	genome.wustl.edu	37	7	128317709	128317709	+	Silent	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr7:128317709C>T	ENST00000480462.1	+	3	563	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Silent_p.L144L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	153										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GATCTACTATCTGAAGCTCCA	0.512																																						dbGAP											0													57.0	59.0	59.0					7																	128317709		1972	4198	6170	-	-	-	SO:0001819	synonymous_variant	0			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.457C>T	7.37:g.128317709C>T			Q0VGF6|Q0VGF7|Q86X39	Silent	SNP	pfam_DUF3699	p.L153	ENST00000480462.1	37	c.457	CCDS47701.1	7																																																																																			FAM71F2	-	pfam_DUF3699	ENSG00000205085		0.512	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1	66	0.00	0	C			128317709	128317709	+1	no_errors	ENST00000480462	ensembl	human	known	69_37n	silent	29	32.56	14	SNP	1.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84605378	84605378	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr9:84605378G>T	ENST00000344803.2	+	3	326	c.279G>T	c.(277-279)agG>agT	p.R93S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	93					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGAGGAAAGGAAGCTGCTTT	0.418																																						dbGAP											0													105.0	101.0	102.0					9																	84605378		1880	4098	5978	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.279G>T	9.37:g.84605378G>T	ENSP00000341988:p.Arg93Ser			Missense_Mutation	SNP	NULL	p.R93S	ENST00000344803.2	37	c.279	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114062	0.37339	.	.	ENSG00000214929	ENST00000344803	T	0.05717	3.4	2.82	0.915	0.19366	.	0.948357	0.08736	N	0.901256	T	0.08492	0.0211	L	0.49350	1.555	0.09310	N	1	P	0.50819	0.939	P	0.46917	0.531	T	0.33727	-0.9857	10	0.33940	T	0.23	-2.3008	4.8746	0.13650	0.303:0.0:0.697:0.0	.	93	Q6ZQQ2	F75D1_HUMAN	S	93	ENSP00000341988:R93S	ENSP00000341988:R93S	R	+	3	2	FAM75D1	83795198	0.177000	0.23109	0.002000	0.10522	0.008000	0.06430	0.664000	0.25068	0.259000	0.21709	0.650000	0.86243	AGG	FAM75D1	-	NULL	ENSG00000214929		0.418	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	311	0.00	0	G	NM_001001670		84605378	84605378	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	149	30.56	66	SNP	0.003	T
GPR125	166647	genome.wustl.edu	37	4	22390523	22390523	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr4:22390523G>A	ENST00000334304.5	-	19	3040	c.2771C>T	c.(2770-2772)gCc>gTc	p.A924V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	924					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GATGAAGCTGGCTGGCCCATA	0.443																																						dbGAP											0													48.0	54.0	52.0					4																	22390523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2771C>T	4.37:g.22390523G>A	ENSP00000334952:p.Ala924Val		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.A924V	ENST00000334304.5	37	c.2771	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445458	0.25987	.	.	ENSG00000152990	ENST00000334304	T	0.38722	1.12	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.154247	0.64402	D	0.000019	T	0.28001	0.0690	N	0.21617	0.685	0.80722	D	1	B;P	0.38129	0.15;0.619	B;B	0.33890	0.101;0.172	T	0.13098	-1.0522	10	0.02654	T	1	-27.7405	20.13	0.97997	0.0:0.0:1.0:0.0	.	781;924	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	924	ENSP00000334952:A924V	ENSP00000334952:A924V	A	-	2	0	GPR125	21999621	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.703000	0.68340	2.751000	0.94390	0.650000	0.86243	GCC	GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	57	0.00	0	G			22390523	22390523	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
IP6K2	51447	genome.wustl.edu	37	3	48732632	48732633	+	Frame_Shift_Ins	INS	-	-	C	rs369490009		TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr3:48732632_48732633insC	ENST00000328631.5	-	2	315_316	c.92_93insG	c.(91-93)tgcfs	p.C31fs	IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.C85fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.C31fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.C31fs|IP6K2_ENST00000431721.2_Frame_Shift_Ins_p.C86fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.C31fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.C31fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.C89fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.C90fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.C31fs|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.C31fs	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	31					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AGCGGAGCACGCATGAGTGCCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.93dupG	3.37:g.48732633_48732633dupC	ENSP00000331103:p.Cys31fs		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	pfam_IPK	p.C31fs	ENST00000328631.5	37	c.93_92	CCDS2777.1	3																																																																																			IP6K2	-	NULL	ENSG00000068745		0.624	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	104	0.00	0	-	NM_016291		48732632	48732633	-1	no_errors	ENST00000328631	ensembl	human	known	69_37n	frame_shift_ins	64	36.00	36	INS	0.631:1.000	C
KAT6B	23522	genome.wustl.edu	37	10	76739051	76739051	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr10:76739051G>A	ENST00000287239.4	+	10	2674	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	KAT6B_ENST00000372724.1_Missense_Mutation_p.E437K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E546K|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.E437K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E437K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	729	Catalytic.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGGTAAATATGAAATCCAAAC	0.398																																						dbGAP											0													107.0	105.0	106.0					10																	76739051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2185G>A	10.37:g.76739051G>A	ENSP00000287239:p.Glu729Lys		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E729K	ENST00000287239.4	37	c.2185	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765065	0.90020	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80123	-1.29;-1.29;-1.34;-1.29;-1.32	5.98	5.98	0.97165	.	0.000000	0.51477	D	0.000094	D	0.86977	0.6063	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	0.975;1.0;0.996	P;D;D	0.83275	0.835;0.996;0.973	D	0.86427	0.1758	10	0.56958	D	0.05	-16.092	20.4293	0.99080	0.0:0.0:1.0:0.0	.	546;437;729	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	437;437;729;437;546	ENSP00000361810:E437K;ENSP00000361809:E437K;ENSP00000287239:E729K;ENSP00000361799:E437K;ENSP00000361796:E546K	ENSP00000287239:E729K	E	+	1	0	KAT6B	76409057	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	2.833000	0.97629	0.655000	0.94253	GAA	KAT6B	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000156650		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	290	0.34	1	G	NM_012330		76739051	76739051	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	105	23.91	33	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12011227	12011228	+	Splice_Site	INS	-	-	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr17:12011227_12011228insT	ENST00000353533.5	+	5	696		c.e5+1		MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CACTTTAGCAGTAAGTACCTGG	0.327			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.633+1->T	17.37:g.12011228_12011228dupT			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	INS	-	e6+1	ENST00000353533.5	37	c.666+1_666+1	CCDS11162.1	17																																																																																			MAP2K4	-	-	ENSG00000065559		0.327	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	222	0.00	0	-		Intron	12011227	12011228	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site_ins	73	13.10	11	INS	1.000:1.000	T
KRT28	162605	genome.wustl.edu	37	17	38954517	38954517	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr17:38954517C>G	ENST00000306658.7	-	3	725	c.660G>C	c.(658-660)gaG>gaC	p.E220D		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GATATGTCATCTCCTCACTCA	0.498																																					Melanoma(19;789 869 15380 26882 39836)	dbGAP											0													110.0	111.0	111.0					17																	38954517		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.660G>C	17.37:g.38954517C>G	ENSP00000305263:p.Glu220Asp			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E220D	ENST00000306658.7	37	c.660	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365854	0.61513	.	.	ENSG00000173908	ENST00000306658	D	0.92249	-3.0	5.32	3.29	0.37713	Filament (1);	0.095747	0.45606	D	0.000348	D	0.95648	0.8585	M	0.87381	2.88	0.34465	D	0.702146	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	10	0.72032	D	0.01	.	9.2556	0.37581	0.0:0.7657:0.0:0.2343	.	220	Q7Z3Y7	K1C28_HUMAN	D	220	ENSP00000305263:E220D	ENSP00000305263:E220D	E	-	3	2	KRT28	36208043	0.029000	0.19370	0.991000	0.47740	0.682000	0.39822	-0.188000	0.09642	1.372000	0.46190	0.561000	0.74099	GAG	KRT28	-	pfam_F,superfamily_Prefoldin	ENSG00000173908		0.498	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	196	0.00	0	C	NM_181535		38954517	38954517	-1	no_errors	ENST00000306658	ensembl	human	known	69_37n	missense	207	15.85	39	SNP	0.999	G
MIA3	375056	genome.wustl.edu	37	1	222801435	222801435	+	Silent	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:222801435G>A	ENST00000344922.5	+	4	898	c.873G>A	c.(871-873)gaG>gaA	p.E291E	MIA3_ENST00000344441.6_Silent_p.E291E|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Silent_p.E291E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	291					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGATGATGAGACAACCAGAC	0.363																																						dbGAP											0													102.0	96.0	98.0					1																	222801435		1895	4115	6010	-	-	-	SO:0001819	synonymous_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.873G>A	1.37:g.222801435G>A			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E291	ENST00000344922.5	37	c.873	CCDS41470.1	1																																																																																			MIA3	-	NULL	ENSG00000154305		0.363	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	109	0.00	0	G	NM_198551		222801435	222801435	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	silent	140	14.63	24	SNP	0.929	A
MLLT10	8028	genome.wustl.edu	37	10	21827790	21827790	+	Silent	SNP	T	T	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr10:21827790T>A	ENST00000307729.7	+	3	367	c.189T>A	c.(187-189)acT>acA	p.T63T	MLLT10_ENST00000377072.3_Silent_p.T63T|MLLT10_ENST00000446906.2_Silent_p.T63T|MLLT10_ENST00000377100.3_Silent_p.T63T|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Silent_p.T63T|MLLT10_ENST00000377091.2_Silent_p.T63T			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	63					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAGTACCCACTGGACCGTGGT	0.368			T	"""MLL, PICALM, CDK6"""	AL																																	dbGAP		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													105.0	102.0	103.0					10																	21827790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.189T>A	10.37:g.21827790T>A			B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.W29R	ENST00000307729.7	37	c.85	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538392	0.27475	.	.	ENSG00000078403	ENST00000430455	.	.	.	5.64	1.95	0.26073	.	.	.	.	.	T	0.53642	0.1809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	.	6.1675	0.20398	0.2516:0.0684:0.0:0.68	.	.	.	.	R	29	.	.	W	+	1	0	MLLT10	21867796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.658000	0.46733	0.366000	0.24427	0.528000	0.53228	TGG	MLLT10	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000078403		0.368	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	252	0.00	0	T			21827790	21827790	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430455	ensembl	human	known	69_37n	missense	91	38.51	57	SNP	1.000	A
PARP14	54625	genome.wustl.edu	37	3	122399872	122399872	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr3:122399872C>T	ENST00000474629.2	+	1	408	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCGCCAGGATCCCAGGAGCCC	0.672																																						dbGAP											0													28.0	32.0	31.0					3																	122399872		1869	4096	5965	-	-	-	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.142C>T	3.37:g.122399872C>T	ENSP00000418194:p.Pro48Ser		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.P48S	ENST00000474629.2	37	c.142	CCDS46894.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221310|3.221310	0.58560|0.58560	.|.	.|.	ENSG00000173193|ENSG00000173193	ENST00000474629;ENST00000398162|ENST00000494811	T|.	0.09911|.	2.93|.	3.93|3.93	3.04|3.04	0.35103|0.35103	.|.	.|.	.|.	.|.	.|.	T|T	0.53981|0.53981	0.1830|0.1830	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	D|.	0.53151|.	0.958|.	P|.	0.49387|.	0.609|.	T|T	0.44283|0.44283	-0.9338|-0.9338	9|5	0.27785|.	T|.	0.31|.	.|.	9.0825|9.0825	0.36561|0.36561	0.2179:0.7821:0.0:0.0|0.2179:0.7821:0.0:0.0	.|.	48|.	Q460N5|.	PAR14_HUMAN|.	S|F	48|56	ENSP00000418194:P48S|.	ENSP00000381228:P48S|.	P|S	+|+	1|2	0|0	PARP14|PARP14	123882562|123882562	0.038000|0.038000	0.19896|0.19896	0.011000|0.011000	0.14972|0.14972	0.055000|0.055000	0.15305|0.15305	1.227000|1.227000	0.32576|0.32576	0.972000|0.972000	0.38314|0.38314	0.655000|0.655000	0.94253|0.94253	CCC|TCC	PARP14	-	NULL	ENSG00000173193		0.672	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	22	0.00	0	C	NM_017554		122399872	122399872	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.104	T
PDGFRB	5159	genome.wustl.edu	37	5	149510159	149510159	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr5:149510159C>T	ENST00000261799.4	-	9	1779	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	437	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCGGCCACGACAGCGGAC	0.622			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													90.0	98.0	95.0					5																	149510159		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1310G>A	5.37:g.149510159C>T	ENSP00000261799:p.Arg437His	1725	B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R437H	ENST00000261799.4	37	c.1310	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231652	0.79688	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75704	-0.96	4.87	4.87	0.63330	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);	0.233530	0.30959	N	0.008521	T	0.75228	0.3821	L	0.50333	1.59	0.27594	N	0.94918	D;D	0.76494	0.996;0.999	P;P	0.55112	0.731;0.769	T	0.69143	-0.5223	10	0.45353	T	0.12	.	8.2256	0.31566	0.2701:0.5735:0.1564:0.0	.	437;437	A8KAM8;P09619	.;PGFRB_HUMAN	H	437;107	ENSP00000261799:R437H	ENSP00000261799:R437H	R	-	2	0	PDGFRB	149490352	0.888000	0.30383	0.997000	0.53966	0.919000	0.55068	1.494000	0.35616	2.249000	0.74217	0.462000	0.41574	CGT	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	ENSG00000113721		0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	29	0.00	0	C	NM_002609		149510159	149510159	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	0.850	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	163	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	57	64.15	102	SNP	1.000	A
PTPN22	26191	genome.wustl.edu	37	1	114397570	114397570	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:114397570A>C	ENST00000359785.5	-	8	777	c.642T>G	c.(640-642)tgT>tgG	p.C214W	PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000420377.2_Missense_Mutation_p.C214W|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.C214W|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	214	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTTGGTAACAACGTACAT	0.413																																						dbGAP											0													177.0	155.0	162.0					1																	114397570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.642T>G	1.37:g.114397570A>C	ENSP00000352833:p.Cys214Trp		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C214W	ENST00000359785.5	37	c.642	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325644	0.60743	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;D;D	0.83250	-1.7;-1.7;-1.7	6.16	1.29	0.21616	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.367801	0.31847	N	0.006961	T	0.76205	0.3955	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.61080	0.962;0.987;0.986;0.989	P;P;P;P	0.60286	0.808;0.801;0.867;0.872	T	0.73496	-0.3964	10	0.42905	T	0.14	.	6.2815	0.21009	0.46:0.143:0.397:0.0	.	214;214;214;214	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	W	214	ENSP00000352833:C214W;ENSP00000435176:C214W;ENSP00000388229:C214W	ENSP00000346621:C214W	C	-	3	2	PTPN22	114199093	0.994000	0.37717	0.937000	0.37676	0.992000	0.81027	1.063000	0.30567	-0.019000	0.14055	0.528000	0.53228	TGT	PTPN22	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000134242		0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	169	0.00	0	A	NM_015967		114397570	114397570	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	missense	85	32.00	40	SNP	0.978	C
PSEN2	5664	genome.wustl.edu	37	1	227069706	227069706	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:227069706A>G	ENST00000366783.3	+	4	534	c.98A>G	c.(97-99)gAg>gGg	p.E33G	PSEN2_ENST00000366782.1_Missense_Mutation_p.E66G|PSEN2_ENST00000422240.2_Missense_Mutation_p.E33G|PSEN2_ENST00000391872.2_Missense_Mutation_p.E66G|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000340188.4_Missense_Mutation_p.E33G	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	33					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TCCTGCCAGGAGGGCAGGCAG	0.622																																						dbGAP											0													45.0	45.0	45.0					1																	227069706		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.98A>G	1.37:g.227069706A>G	ENSP00000355747:p.Glu33Gly		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A	p.E66G	ENST00000366783.3	37	c.197	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886491	0.72410	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	D;D;D;D;D;D	0.99801	-6.78;-6.51;-5.12;-6.78;-6.81;-6.81	5.4	5.4	0.78164	.	0.406640	0.27311	N	0.019953	D	0.98435	0.9479	N	0.19112	0.55	0.34922	D	0.748536	B;B	0.28900	0.001;0.227	B;B	0.26614	0.001;0.071	D	0.99991	1.4426	9	.	.	.	.	15.4196	0.75000	1.0:0.0:0.0:0.0	.	33;33	A8K8D4;P49810	.;PSN2_HUMAN	G	33;33;33;33;66;66	ENSP00000355747:E33G;ENSP00000339860:E33G;ENSP00000429682:E33G;ENSP00000403737:E33G;ENSP00000355746:E66G;ENSP00000375745:E66G	.	E	+	2	0	PSEN2	225136329	1.000000	0.71417	0.980000	0.43619	0.966000	0.64601	3.893000	0.56243	2.037000	0.60232	0.533000	0.62120	GAG	PSEN2	-	NULL	ENSG00000143801		0.622	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	HGNC	protein_coding	OTTHUMT00000091539.1	19	0.00	0	A	NM_000447		227069706	227069706	+1	no_errors	ENST00000391872	ensembl	human	known	69_37n	missense	14	64.29	27	SNP	0.998	G
RIPK1	8737	genome.wustl.edu	37	6	3077012	3077012	+	5'UTR	DEL	G	G	-	rs202096237	byFrequency	TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr6:3077012delG	ENST00000259808.4	+	0	253				RIPK1_ENST00000541791.1_5'Flank|RIPK1_ENST00000380409.2_5'Flank|RIPK1_ENST00000479389.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CAGCTCTGCCGGGGGGGGAAA	0.388																																						dbGAP											0													28.0	28.0	28.0					6																	3077012		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.-46G>-	6.37:g.3077012delG			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	RNA	DEL	-	NULL	ENST00000259808.4	37	NULL	CCDS4482.1	6																																																																																			RIPK1	-	-	ENSG00000137275		0.388	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	46	0.00	0	G	NM_003804		3077012	3077012	+1	no_errors	ENST00000490396	ensembl	human	known	69_37n	rna	20	12.50	3	DEL	0.000	-
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037867	10037867	+	RNA	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chrY:10037867C>T	ENST00000515896.1	+	0	104									RNA, 5.8S ribosomal pseudogene 6																		ACACTTCGAACGCACTTGCGG	0.557																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037867C>T				RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.557	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		42	0.00	0	C			10037867	10037867	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	1.000	T
RNF135	84282	genome.wustl.edu	37	17	29325839	29325839	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr17:29325839C>T	ENST00000328381.5	+	5	1802	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	310	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GCCCTGTCTTCTGGAAAGCAT	0.567																																						dbGAP											1	Unknown(1)	central_nervous_system(1)											54.0	49.0	51.0					17																	29325839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.929C>T	17.37:g.29325839C>T	ENSP00000328340:p.Ser310Phe		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.S310F	ENST00000328381.5	37	c.929	CCDS11262.1	17	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413422	0.62511	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.68903	-0.36	4.99	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.196311	0.26065	N	0.026557	D	0.85243	0.5652	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87989	0.2748	10	0.87932	D	0	-11.9546	11.3916	0.49817	0.0:0.9101:0.0:0.0899	.	310	Q8IUD6	RN135_HUMAN	F	310;129	ENSP00000328340:S310F	ENSP00000328340:S310F	S	+	2	0	RNF135	26349965	0.217000	0.23597	0.588000	0.28705	0.694000	0.40290	0.707000	0.25704	1.240000	0.43803	0.655000	0.94253	TCT	RNF135	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000181481		0.567	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF135	HGNC	protein_coding	OTTHUMT00000256342.3	69	0.00	0	C	NM_032322		29325839	29325839	+1	no_errors	ENST00000328381	ensembl	human	known	69_37n	missense	49	40.24	33	SNP	0.997	T
RTL1	388015	genome.wustl.edu	37	14	101348922	101348922	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr14:101348922A>G	ENST00000534062.1	-	1	2262	c.2204T>C	c.(2203-2205)gTc>gCc	p.V735A	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	735					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTAGATCAGGACTTCCTGGCC	0.537																																						dbGAP											0													105.0	98.0	100.0					14																	101348922		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2204T>C	14.37:g.101348922A>G	ENSP00000435342:p.Val735Ala		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V735A	ENST00000534062.1	37	c.2204	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	A	16.25	3.068855	0.55539	.	.	ENSG00000254656	ENST00000534062	T	0.47528	0.84	3.81	3.81	0.43845	.	0.000000	0.33875	N	0.004476	T	0.66046	0.2750	M	0.86268	2.805	0.30008	N	0.815445	D	0.67145	0.996	P	0.61070	0.883	T	0.68300	-0.5445	10	0.87932	D	0	.	11.1911	0.48685	1.0:0.0:0.0:0.0	.	735	E9PKS8	.	A	735	ENSP00000435342:V735A	ENSP00000435342:V735A	V	-	2	0	RTL1	100418675	0.993000	0.37304	0.075000	0.20258	0.539000	0.34962	6.381000	0.73163	1.967000	0.57214	0.459000	0.35465	GTC	RTL1	-	NULL	ENSG00000254656		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	103	0.00	0	A	NM_001134888		101348922	101348922	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	86	32.28	41	SNP	0.956	G
SEC24A	10802	genome.wustl.edu	37	5	134059307	134059307	+	Silent	SNP	C	C	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr5:134059307C>T	ENST00000398844.2	+	22	3402	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1038					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAGCTTTCATCTCTTGGC	0.338																																						dbGAP											0													179.0	166.0	170.0					5																	134059307		1839	4088	5927	-	-	-	SO:0001819	synonymous_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3114C>T	5.37:g.134059307C>T			A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.F1038	ENST00000398844.2	37	c.3114	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Gelsolin_dom	ENSG00000113615		0.338	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	286	0.00	0	C			134059307	134059307	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	silent	110	29.75	47	SNP	0.973	T
SH3PXD2B	285590	genome.wustl.edu	37	5	171766429	171766429	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr5:171766429A>C	ENST00000311601.5	-	13	1850	c.1680T>G	c.(1678-1680)atT>atG	p.I560M	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	560					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCATCGGCAAAATCACGCCCG	0.617																																						dbGAP											0													58.0	68.0	65.0					5																	171766429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1680T>G	5.37:g.171766429A>C	ENSP00000309714:p.Ile560Met		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.I560M	ENST00000311601.5	37	c.1680	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	A	9.103	1.004679	0.19199	.	.	ENSG00000174705	ENST00000311601	T	0.64260	-0.09	5.83	-9.01	0.00744	.	0.275846	0.34879	N	0.003618	T	0.33059	0.0850	N	0.24115	0.695	0.24834	N	0.992506	B	0.26195	0.144	B	0.19148	0.024	T	0.11155	-1.0599	9	.	.	.	-9.1983	8.4716	0.32988	0.2161:0.1053:0.5755:0.1031	.	560	A1X283	SPD2B_HUMAN	M	560	ENSP00000309714:I560M	.	I	-	3	3	SH3PXD2B	171699034	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.052000	0.14163	-2.097000	0.00851	-0.441000	0.05720	ATT	SH3PXD2B	-	NULL	ENSG00000174705		0.617	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	25	0.00	0	A	NM_017963		171766429	171766429	-1	no_errors	ENST00000311601	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.000	C
SI	6476	genome.wustl.edu	37	3	164716394	164716394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr3:164716394G>A	ENST00000264382.3	-	38	4536	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1492	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTCCCCATCGTCCACTAGTA	0.383										HNSCC(35;0.089)																												dbGAP											0													186.0	165.0	172.0					3																	164716394		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4474C>T	3.37:g.164716394G>A	ENSP00000264382:p.Arg1492*		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R1492*	ENST00000264382.3	37	c.4474	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.878964	0.98539	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.76	1.92	0.25849	.	0.298852	0.31859	N	0.006947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1403	0.65316	0.0:0.0:0.4915:0.5085	.	.	.	.	X	1492	.	ENSP00000264382:R1492X	R	-	1	2	SI	166199088	0.002000	0.14202	0.153000	0.22517	0.109000	0.19521	0.587000	0.23909	0.294000	0.22547	0.650000	0.86243	CGA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	362	0.00	0	G	NM_001041		164716394	164716394	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	nonsense	160	33.61	81	SNP	0.728	A
SMARCA2	6595	genome.wustl.edu	37	9	2116045	2116045	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr9:2116045A>G	ENST00000382203.1	+	25	3889	c.3680A>G	c.(3679-3681)aAt>aGt	p.N1227S	SMARCA2_ENST00000357248.2_Missense_Mutation_p.N1227S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.N1227S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.N1227S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1227					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAGGAGGAAAATGAGGTATTA	0.458											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													28.0	30.0	30.0					9																	2116045		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3680A>G	9.37:g.2116045A>G	ENSP00000371638:p.Asn1227Ser	601	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.N1227S	ENST00000382203.1	37	c.3680	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771374	0.49680	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	N	0.20530	0.585	0.80722	D	1	B;P;P	0.38195	0.002;0.525;0.622	B;B;B	0.33454	0.007;0.164;0.112	T	0.59337	-0.7473	10	0.21014	T	0.42	-34.4032	16.19	0.81981	1.0:0.0:0.0:0.0	.	828;1227;1227	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	1227	ENSP00000265773:N1227S;ENSP00000349788:N1227S;ENSP00000371638:N1227S;ENSP00000371629:N1227S	ENSP00000265773:N1227S	N	+	2	0	SMARCA2	2106045	1.000000	0.71417	0.984000	0.44739	0.828000	0.46876	9.339000	0.96797	2.225000	0.72522	0.460000	0.39030	AAT	SMARCA2	-	NULL	ENSG00000080503		0.458	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	34	0.00	0	A	NM_003070		2116045	2116045	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113169979	113169979	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr9:113169979A>G	ENST00000401783.2	-	38	8237	c.7901T>C	c.(7900-7902)tTt>tCt	p.F2634S	SVEP1_ENST00000297826.5_Missense_Mutation_p.F560S|SVEP1_ENST00000374469.1_Missense_Mutation_p.F2611S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2634					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCTTGCTCAAAATATCCCTG	0.438																																						dbGAP											0													215.0	211.0	213.0					9																	113169979		1896	4126	6022	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7901T>C	9.37:g.113169979A>G	ENSP00000384917:p.Phe2634Ser		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.F2634S	ENST00000401783.2	37	c.7901	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	0.093	-1.163759	0.01673	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.75260	-0.91;-0.92;-0.43	5.4	4.26	0.50523	.	0.441828	0.26450	N	0.024319	T	0.56790	0.2009	L	0.35288	1.05	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.38265	-0.9669	10	0.21540	T	0.41	.	3.2592	0.06843	0.5505:0.0:0.1675:0.282	.	2634	Q4LDE5	SVEP1_HUMAN	S	2634;2611;560;306	ENSP00000384917:F2634S;ENSP00000363593:F2611S;ENSP00000297826:F560S	ENSP00000297826:F560S	F	-	2	0	SVEP1	112209800	0.046000	0.20272	0.996000	0.52242	0.094000	0.18550	0.811000	0.27198	0.882000	0.36016	-0.386000	0.06593	TTT	SVEP1	-	NULL	ENSG00000165124		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		56	0.00	0	A			113169979	113169979	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	0.087	G
SYNE2	23224	genome.wustl.edu	37	14	64636985	64636985	+	Silent	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr14:64636985G>A	ENST00000344113.4	+	94	17252	c.17040G>A	c.(17038-17040)cgG>cgA	p.R5680R	SYNE2_ENST00000555002.1_Silent_p.R2314R|SYNE2_ENST00000358025.3_Silent_p.R5680R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.R2065R|SYNE2_ENST00000357395.3_Silent_p.R2065R|SYNE2_ENST00000554584.1_Silent_p.R5555R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5680					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGACGGATCGGTGGCAGAATG	0.448																																						dbGAP											0													126.0	114.0	118.0					14																	64636985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17040G>A	14.37:g.64636985G>A			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5680	ENST00000344113.4	37	c.17040	CCDS41963.1	14																																																																																			SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	182	0.00	0	G	NM_182914		64636985	64636985	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	silent	80	36.51	46	SNP	0.150	A
TARS2	80222	genome.wustl.edu	37	1	150479529	150479529	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:150479529G>A	ENST00000369064.3	+	18	2180	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000606933.1_Missense_Mutation_p.E634K|ECM1_ENST00000369047.4_5'Flank|ECM1_ENST00000369049.4_5'Flank|TARS2_ENST00000369054.2_Missense_Mutation_p.E586K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	716					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AAATGCCGAAGAAATTTTCTG	0.552																																						dbGAP											0													72.0	70.0	71.0					1																	150479529		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.2146G>A	1.37:g.150479529G>A	ENSP00000358060:p.Glu716Lys		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.E716K	ENST00000369064.3	37	c.2146	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535152	0.64972	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.25	4.33	0.51752	Anticodon-binding (1);	0.334495	0.30365	N	0.009796	T	0.35856	0.0946	L	0.39397	1.21	0.80722	D	1	D;P;P	0.54772	0.968;0.917;0.883	P;B;B	0.45343	0.477;0.293;0.268	T	0.33701	-0.9858	9	0.56958	D	0.05	-8.5448	14.0426	0.64687	0.0:0.2876:0.7124:0.0	.	586;441;716	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	K	586;716;441;441	.	ENSP00000358047:E441K	E	+	1	0	TARS2	148746153	1.000000	0.71417	0.432000	0.26747	0.286000	0.27126	4.905000	0.63286	1.427000	0.47276	0.650000	0.86243	GAA	TARS2	-	superfamily_Anticodon-bd	ENSG00000143374		0.552	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	89	0.00	0	G	NM_025150		150479529	150479529	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	missense	121	28.82	49	SNP	0.997	A
TBK1	29110	genome.wustl.edu	37	12	64875760	64875760	+	Silent	SNP	A	A	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr12:64875760A>G	ENST00000331710.5	+	8	1290	c.951A>G	c.(949-951)caA>caG	p.Q317Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	317	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTTCGCTACAACAAATGACAG	0.318																																						dbGAP											0													85.0	78.0	80.0					12																	64875760		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.951A>G	12.37:g.64875760A>G			A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q317	ENST00000331710.5	37	c.951	CCDS8968.1	12																																																																																			TBK1	-	NULL	ENSG00000183735		0.318	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	184	0.54	1	A	NM_013254		64875760	64875760	+1	no_errors	ENST00000331710	ensembl	human	known	69_37n	silent	120	23.57	37	SNP	1.000	G
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	21	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.994	A
TMC5	79838	genome.wustl.edu	37	16	19451502	19451502	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr16:19451502C>G	ENST00000396229.2	+	3	891	c.142C>G	c.(142-144)Ccc>Gcc	p.P48A	TMC5_ENST00000381414.4_Missense_Mutation_p.P48A|TMC5_ENST00000541464.1_Missense_Mutation_p.P48A|TMC5_ENST00000542583.2_Missense_Mutation_p.P48A	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	48					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCAGACTACCCCGGCACCAG	0.488																																						dbGAP											0													93.0	93.0	93.0					16																	19451502		1900	4112	6012	-	-	-	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.142C>G	16.37:g.19451502C>G	ENSP00000379531:p.Pro48Ala		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.P48A	ENST00000396229.2	37	c.142	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	C	10.79	1.451073	0.26074	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.68479	-0.31;-0.12;-0.33;-0.33	4.96	-0.426	0.12314	.	67.650300	0.00166	N	0.000000	T	0.57475	0.2056	L	0.48642	1.525	0.09310	N	1	P;B;B	0.35575	0.51;0.376;0.3	B;B;B	0.27608	0.081;0.037;0.066	T	0.50550	-0.8815	10	0.54805	T	0.06	-4.0047	7.753	0.28909	0.0:0.5255:0.0:0.4745	.	48;48;48	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	A	48	ENSP00000441227:P48A;ENSP00000370822:P48A;ENSP00000379531:P48A;ENSP00000446274:P48A	ENSP00000370822:P48A	P	+	1	0	TMC5	19359003	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.275000	0.08525	0.027000	0.15297	-0.137000	0.14449	CCC	TMC5	-	NULL	ENSG00000103534		0.488	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	122	0.00	0	C	NM_024780		19451502	19451502	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	missense	76	28.97	31	SNP	0.001	G
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr17:7578190T>G	ENST00000269305.4	-	6	848	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000420246.2_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>C	17.37:g.7578190T>G	ENSP00000269305:p.Tyr220Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220S	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447753	0.84101	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;0.997;1.0;0.995;0.968;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.921;0.963;1.0;0.977;0.926;1.0	D	0.96735	0.9542	9	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220S;ENSP00000352610:Y220S;ENSP00000269305:Y220S;ENSP00000398846:Y220S;ENSP00000391127:Y220S;ENSP00000391478:Y220S;ENSP00000425104:Y88S;ENSP00000423862:Y127S	ENSP00000269305:Y220S	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	210	0.00	0	T	NM_000546		7578190	7578190	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	68	49.63	67	SNP	0.998	G
TSPAN1	10103	genome.wustl.edu	37	1	46650495	46650495	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr1:46650495C>G	ENST00000372003.1	+	6	842	c.378C>G	c.(376-378)atC>atG	p.I126M	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	126					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TGCCTGCCATCAAGAAAGATT	0.542																																						dbGAP											0													116.0	110.0	112.0					1																	46650495		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.378C>G	1.37:g.46650495C>G	ENSP00000361072:p.Ile126Met		D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.I126M	ENST00000372003.1	37	c.378	CCDS530.1	1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141648	0.37825	.	.	ENSG00000117472	ENST00000372003	T	0.79554	-1.28	4.81	4.81	0.61882	.	0.538510	0.20370	N	0.093664	T	0.81384	0.4811	L	0.33668	1.02	0.38838	D	0.956004	D	0.71674	0.998	D	0.71414	0.973	T	0.78996	-0.1983	10	0.32370	T	0.25	.	8.3399	0.32237	0.1625:0.6571:0.1804:0.0	.	126	O60635	TSN1_HUMAN	M	126	ENSP00000361072:I126M	ENSP00000361072:I126M	I	+	3	3	TSPAN1	46423082	0.138000	0.22547	1.000000	0.80357	0.514000	0.34195	0.323000	0.19593	2.496000	0.84212	0.455000	0.32223	ATC	TSPAN1	-	pfam_Tetraspanin/Peripherin	ENSG00000117472		0.542	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1	96	0.00	0	C	NM_005727		46650495	46650495	+1	no_errors	ENST00000372003	ensembl	human	known	69_37n	missense	78	30.36	34	SNP	0.997	G
VPREB1	7441	genome.wustl.edu	37	22	22599458	22599458	+	Silent	SNP	C	C	T	rs200837518		TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr22:22599458C>T	ENST00000403807.3	+	2	286	c.147C>T	c.(145-147)atC>atT	p.I49I	VPREB1_ENST00000302273.2_Silent_p.I48I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	49	Complementarity-determining-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGACATCGGTGTGTACA	0.617																																						dbGAP											0													101.0	101.0	101.0					22																	22599458		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.147C>T	22.37:g.22599458C>T			B5MCG2	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I49	ENST00000403807.3	37	c.147	CCDS13798.1	22																																																																																			VPREB1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000169575		0.617	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPREB1	HGNC	protein_coding	OTTHUMT00000321101.1	93	0.00	0	C			22599458	22599458	+1	no_errors	ENST00000403807	ensembl	human	known	69_37n	silent	59	28.92	24	SNP	0.000	T
WDR7	23335	genome.wustl.edu	37	18	54385232	54385232	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr18:54385232A>T	ENST00000254442.3	+	13	1827	c.1616A>T	c.(1615-1617)gAc>gTc	p.D539V	WDR7_ENST00000357574.3_Missense_Mutation_p.D539V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	539					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTAGCCAGTGACCACTCAGTA	0.368																																						dbGAP											0													137.0	126.0	129.0					18																	54385232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1616A>T	18.37:g.54385232A>T	ENSP00000254442:p.Asp539Val		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D539V	ENST00000254442.3	37	c.1616	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	A	25.1	4.604078	0.87157	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.81908	-1.52;-1.55	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.92746	0.6212	10	0.87932	D	0	.	15.413	0.74943	1.0:0.0:0.0:0.0	.	539;539	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	539	ENSP00000254442:D539V;ENSP00000350187:D539V	ENSP00000254442:D539V	D	+	2	0	WDR7	52536230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.215000	0.95146	2.127000	0.65507	0.533000	0.62120	GAC	WDR7	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.368	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	213	0.47	1	A			54385232	54385232	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	missense	35	57.83	48	SNP	1.000	T
WHAMMP2	440253	genome.wustl.edu	37	15	28991161	28991161	+	RNA	DEL	C	C	-	rs4513070	byFrequency	TCGA-B6-A0RH-01A-21D-A10Y-09	TCGA-B6-A0RH-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6e59b987-b4f0-4078-af2d-482c299103b6	6041e087-636b-4f3c-96d9-202e0d102899	g.chr15:28991161delC	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		TGTGAAGAGACTTGGCCAGGC	0.393																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28991161delC				RNA	DEL	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.393	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	34	0.00	0	C	NR_026589		28991161	28991161	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	9	15.38	2	DEL	1.000	-
