#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AGAP7P	653268	genome.wustl.edu	37	10	51464656	51464656	+	Missense_Mutation	SNP	G	G	C	rs61850063	byFrequency	TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr10:51464656G>C	ENST00000374095.5	-	7	1925	c.1800C>G	c.(1798-1800)gaC>gaG	p.D600E		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		600					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCGTGCAGCCGTCTCCCTCCC	0.667													N|||	2021	0.403554	0.0862	0.5634	5008	,	,		15215	0.5327		0.5954	False		,,,				2504	0.3885					dbGAP											0													5.0	6.0	6.0					10																	51464656		1661	3680	5341	-	-	-	SO:0001583	missense	0																														ENST00000374095.5:c.1800C>G	10.37:g.51464656G>C	ENSP00000363208:p.Asp600Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.D600E	ENST00000374095.5	37	c.1800	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	12.00	1.805523	0.31961	.	.	ENSG00000204169	ENST00000374095	T	0.35048	1.33	.	.	.	Ankyrin repeat-containing domain (4);	0.229422	0.41194	D	0.000934	T	0.39462	0.1079	L	0.37697	1.125	0.32636	P	0.521345	B	0.33477	0.413	P	0.56163	0.793	T	0.55927	-0.8063	8	0.72032	D	0.01	.	4.7132	0.12882	0.3524:0.0:0.6476:0.0	.	600	Q5VUJ5	AGAP7_HUMAN	E	600	ENSP00000363208:D600E	ENSP00000363208:D600E	D	-	3	2	AGAP7	51134662	1.000000	0.71417	0.053000	0.19242	0.055000	0.15305	0.289000	0.18957	-1.498000	0.01824	-1.514000	0.00941	GAC	AGAP7	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204169		0.667	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	13	0.00	0	G			51464656	51464656	-1	no_errors	ENST00000374095	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	C
ATP8B3	148229	genome.wustl.edu	37	19	1802626	1802626	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr19:1802626G>A	ENST00000310127.6	-	11	1161	c.923C>T	c.(922-924)gCg>gTg	p.A308V	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A255V|ATP8B3_ENST00000526092.2_Missense_Mutation_p.A255V|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A308V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	308					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGTTAGGCGCCTCACACGT	0.607																																						dbGAP											0													77.0	82.0	80.0					19																	1802626		2108	4222	6330	-	-	-	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.923C>T	19.37:g.1802626G>A	ENSP00000311336:p.Ala308Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A308V	ENST00000310127.6	37	c.923	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	g	8.964	0.971369	0.18736	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	3.72	1.45	0.22620	ATPase, P-type, ATPase-associated domain (1);	0.292229	0.36134	U	0.002771	T	0.62036	0.2395	L	0.39085	1.19	0.22571	N	0.998976	D;P;P	0.58268	0.982;0.806;0.841	B;B;B	0.37387	0.2;0.192;0.248	T	0.56655	-0.7943	10	0.46703	T	0.11	.	9.5369	0.39229	0.0:0.0:0.3593:0.6407	.	255;308;255	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	V	308;308;255;255;255	ENSP00000311336:A308V;ENSP00000443574:A308V;ENSP00000437115:A255V;ENSP00000445204:A255V	ENSP00000311336:A308V	A	-	2	0	ATP8B3	1753626	0.000000	0.05858	0.731000	0.30826	0.052000	0.14988	0.581000	0.23819	0.054000	0.16065	-0.552000	0.04208	GCG	ATP8B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000130270		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	53	0.00	0	G	NM_138813		1802626	1802626	-1	no_errors	ENST00000539485	ensembl	human	known	69_37n	missense	87	26.67	32	SNP	0.888	A
CAND1	55832	genome.wustl.edu	37	12	67696173	67696173	+	Silent	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr12:67696173G>A	ENST00000545606.1	+	8	1508	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	357					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CGAAGTGCTTGGATGCTGTAG	0.418																																						dbGAP											0													214.0	202.0	206.0					12																	67696173		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1071G>A	12.37:g.67696173G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L357	ENST00000545606.1	37	c.1071	CCDS8977.1	12																																																																																			CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.418	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	119	0.00	0	G	NM_018448		67696173	67696173	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	silent	144	25.00	48	SNP	1.000	A
CCIN	881	genome.wustl.edu	37	9	36169514	36169514	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr9:36169514C>A	ENST00000335119.2	+	1	126	c.15C>A	c.(13-15)ttC>ttA	p.F5L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	5					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AATTGGAATTCACGGAGAAAA	0.493																																						dbGAP											0													86.0	84.0	85.0					9																	36169514		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.15C>A	9.37:g.36169514C>A	ENSP00000334996:p.Phe5Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F5L	ENST00000335119.2	37	c.15	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413340	0.62511	.	.	ENSG00000185972	ENST00000335119	T	0.71461	-0.57	5.69	4.78	0.61160	BTB/POZ fold (2);	0.000000	0.64402	D	0.000016	T	0.73814	0.3635	L	0.41236	1.265	0.33970	D	0.646661	P	0.49447	0.924	P	0.60682	0.878	T	0.80405	-0.1396	10	0.72032	D	0.01	.	9.5905	0.39543	0.0:0.9071:0.0:0.0929	.	5	Q13939	CALI_HUMAN	L	5	ENSP00000334996:F5L	ENSP00000334996:F5L	F	+	3	2	CCIN	36159514	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.022000	0.41030	2.690000	0.91761	0.561000	0.74099	TTC	CCIN	-	superfamily_BTB/POZ_fold	ENSG00000185972		0.493	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	56	0.00	0	C	NM_005893		36169514	36169514	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	missense	57	32.14	27	SNP	1.000	A
CD1B	910	genome.wustl.edu	37	1	158299878	158299878	+	Missense_Mutation	SNP	G	G	C	rs138742244		TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr1:158299878G>C	ENST00000368168.3	-	3	478	c.371C>G	c.(370-372)tCt>tGt	p.S124C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	124					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGCACCTCCAGAATGTAGCTC	0.473																																						dbGAP											0													172.0	176.0	175.0					1																	158299878		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.371C>G	1.37:g.158299878G>C	ENSP00000357150:p.Ser124Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S124C	ENST00000368168.3	37	c.371	CCDS1176.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.072|7.072	0.568526|0.568526	0.13560|0.13560	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.07800	.|3.16	3.72|3.72	-2.01|-2.01	0.07410|0.07410	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.551380	.|0.03823	.|N	.|0.267758	T|T	0.10465|0.10465	0.0256|0.0256	M|M	0.86420|0.86420	2.815|2.815	0.09310|0.09310	N|N	1|1	.|D;D	.|0.64830	.|0.959;0.994	.|B;P	.|0.58013	.|0.407;0.831	T|T	0.07809|0.07809	-1.0753|-1.0753	5|10	.|0.66056	.|D	.|0.02	0.0573|0.0573	0.5598|0.5598	0.00677|0.00677	0.2036:0.1609:0.3071:0.3284|0.2036:0.1609:0.3071:0.3284	.|.	.|124;124	.|P29016;P29016-2	.|CD1B_HUMAN;.	L|C	91|124	.|ENSP00000357150:S124C	.|ENSP00000357150:S124C	F|S	-|-	3|2	2|0	CD1B|CD1B	156566502|156566502	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.974000|0.974000	0.29436|0.29436	-0.375000|-0.375000	0.07955|0.07955	-0.768000|-0.768000	0.03414|0.03414	TTC|TCT	CD1B	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158485		0.473	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	65	0.00	0	G	NM_001764		158299878	158299878	-1	no_errors	ENST00000368168	ensembl	human	known	69_37n	missense	81	22.12	23	SNP	0.000	C
CDH1	999	genome.wustl.edu	37	16	68845685	68845686	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr16:68845685_68845686insT	ENST00000261769.5	+	7	1122_1123	c.931_932insT	c.(931-933)ctcfs	p.L311fs	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.L311fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	311	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGATCCTGAGCTCCCTGACAAA	0.54			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.932dupT	16.37:g.68845686_68845686dupT	ENSP00000261769:p.Leu311fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D313fs	ENST00000261769.5	37	c.931_932	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.540	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	55	0.00	0	-	NM_004360		68845685	68845686	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	57	32.94	28	INS	0.000:0.001	T
CSRNP1	64651	genome.wustl.edu	37	3	39185716	39185716	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr3:39185716C>T	ENST00000273153.5	-	4	869	c.692G>A	c.(691-693)cGc>cAc	p.R231H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R231H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	231					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCGGGATTGGCGCAGTGCCTG	0.637																																						dbGAP											0													70.0	65.0	67.0					3																	39185716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.692G>A	3.37:g.39185716C>T	ENSP00000273153:p.Arg231His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YY5	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.R231H	ENST00000273153.5	37	c.692	CCDS2682.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.306255	0.95629	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.16597	2.33;2.33	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60702	-0.7211	10	0.87932	D	0	-38.8183	18.9946	0.92807	0.0:1.0:0.0:0.0	.	231	Q96S65	CSRN1_HUMAN	H	231	ENSP00000273153:R231H;ENSP00000422532:R231H	ENSP00000273153:R231H	R	-	2	0	CSRNP1	39160720	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.792000	0.85828	2.563000	0.86464	0.561000	0.74099	CGC	CSRNP1	-	prints_Cys/Ser-rich_nuc_prot	ENSG00000144655		0.637	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1	16	0.00	0	C	NM_033027		39185716	39185716	-1	no_errors	ENST00000273153	ensembl	human	known	69_37n	missense	34	34.62	18	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48694417	48694417	+	Silent	SNP	T	T	C			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr3:48694417T>C	ENST00000164024.4	-	2	4393	c.4113A>G	c.(4111-4113)gtA>gtG	p.V1371V	CELSR3_ENST00000544264.1_Silent_p.V1371V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1371					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGAAGGGCAGTACGTCGAGCA	0.677																																						dbGAP											0													51.0	38.0	42.0					3																	48694417		2199	4299	6498	-	-	-	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4113A>G	3.37:g.48694417T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V1371	ENST00000164024.4	37	c.4113	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	8	0.00	0	T	NM_001407		48694417	48694417	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	1.000	C
EFR3B	22979	genome.wustl.edu	37	2	25358396	25358396	+	Missense_Mutation	SNP	C	C	T	rs187995146		TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr2:25358396C>T	ENST00000403714.3	+	13	1555	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	EFR3B_ENST00000405108.1_Missense_Mutation_p.R310C|EFR3B_ENST00000402191.1_Missense_Mutation_p.R423C|EFR3B_ENST00000401432.3_Missense_Mutation_p.R458C	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	458										endometrium(1)	1						CTTCCTGGACCGCCTTCTCTC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		25682	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													124.0	105.0	111.0					2																	25358396		692	1591	2283	-	-	-	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.1372C>T	2.37:g.25358396C>T	ENSP00000384081:p.Arg458Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R458C	ENST00000403714.3	37	c.1372	CCDS46231.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.034772	0.75617	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.66638	-0.12;-0.12;-0.22;3.52;3.53	4.46	4.46	0.54185	Armadillo-type fold (1);	0.067156	0.56097	D	0.000026	T	0.55909	0.1950	N	0.22421	0.69	0.53005	D	0.999969	D;D	0.57571	0.963;0.98	B;P	0.45946	0.431;0.498	T	0.62544	-0.6832	10	0.72032	D	0.01	-18.207	11.8467	0.52389	0.1756:0.8244:0.0:0.0	.	458;458	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	C	458;458;423;423;310;337	ENSP00000386082:R458C;ENSP00000384081:R458C;ENSP00000385832:R423C;ENSP00000384454:R310C;ENSP00000264719:R337C	ENSP00000264719:R337C	R	+	1	0	EFR3B	25211900	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.799000	0.55529	2.307000	0.77673	0.563000	0.77884	CGC	EFR3B	-	superfamily_ARM-type_fold	ENSG00000084710		0.502	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	85	0.00	0	C	NM_014971		25358396	25358396	+1	no_errors	ENST00000403714	ensembl	human	known	69_37n	missense	142	29.35	59	SNP	1.000	T
ETV7	51513	genome.wustl.edu	37	6	36334453	36334453	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr6:36334453A>G	ENST00000340181.4	-	8	1236	c.995T>C	c.(994-996)tTc>tCc	p.F332S	ETV7_ENST00000373737.4_Missense_Mutation_p.F255S|ETV7_ENST00000538992.1_Missense_Mutation_p.F181S|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000373738.1_Missense_Mutation_p.F277S	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	332					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTTGTCCTTGAACTCTATTCT	0.582																																						dbGAP											0													127.0	124.0	125.0					6																	36334453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.995T>C	6.37:g.36334453A>G	ENSP00000341843:p.Phe332Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.F332S	ENST00000340181.4	37	c.995	CCDS4819.1	6	.	.	.	.	.	.	.	.	.	.	A	10.12	1.261799	0.23051	.	.	ENSG00000010030	ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T	0.14893	3.05;2.75;2.67;2.47	4.44	3.23	0.37069	.	0.881282	0.09761	N	0.759213	T	0.06554	0.0168	L	0.32530	0.975	0.25177	N	0.99023	B;B;D;B	0.55172	0.24;0.2;0.97;0.009	B;B;P;B	0.49708	0.198;0.077;0.62;0.007	T	0.23940	-1.0174	10	0.22706	T	0.39	.	5.6772	0.17755	0.6526:0.1771:0.0:0.1703	.	273;255;277;332	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603	.;.;.;ETV7_HUMAN	S	332;255;277;181	ENSP00000341843:F332S;ENSP00000362842:F255S;ENSP00000362843:F277S;ENSP00000440592:F181S	ENSP00000341843:F332S	F	-	2	0	ETV7	36442431	0.993000	0.37304	0.014000	0.15608	0.196000	0.23810	2.277000	0.43417	0.537000	0.28751	0.459000	0.35465	TTC	ETV7	-	NULL	ENSG00000010030		0.582	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETV7	HGNC	protein_coding	OTTHUMT00000040341.1	71	0.00	0	A	NM_016135		36334453	36334453	-1	no_errors	ENST00000340181	ensembl	human	known	69_37n	missense	146	24.62	48	SNP	0.891	G
FLNA	2316	genome.wustl.edu	37	X	153599398	153599398	+	Silent	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chrX:153599398G>A	ENST00000369850.3	-	2	452	c.216C>T	c.(214-216)agC>agT	p.S72S	FLNA_ENST00000360319.4_Silent_p.S72S|FLNA_ENST00000422373.1_Silent_p.S72S|FLNA_ENST00000344736.4_Silent_p.S72S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	72	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCCCGTCGCTCAGGTCCG	0.602																																						dbGAP											0													54.0	48.0	50.0					X																	153599398		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.216C>T	X.37:g.153599398G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S72	ENST00000369850.3	37	c.216	CCDS48194.1	X																																																																																			FLNA	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000196924		0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	12	0.00	0	G			153599398	153599398	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	silent	68	23.60	21	SNP	1.000	A
GLB1L3	112937	genome.wustl.edu	37	11	134179638	134179638	+	Silent	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr11:134179638G>A	ENST00000431683.2	+	11	1080	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	360					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGAAGCACTCGGGCATTGTCA	0.507																																						dbGAP											0													67.0	66.0	66.0					11																	134179638		1938	4122	6060	-	-	-	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1080G>A	11.37:g.134179638G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	p.R45Q	ENST00000431683.2	37	c.134	CCDS44780.1	11																																																																																			GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.507	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	113	0.00	0	G	NM_138416		134179638	134179638	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455971	ensembl	human	known	69_37n	missense	119	23.23	36	SNP	0.000	A
KLHL21	9903	genome.wustl.edu	37	1	6659504	6659504	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr1:6659504C>T	ENST00000377658.4	-	2	1081	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	KLHL21_ENST00000467612.1_5'UTR|KLHL21_ENST00000463043.1_5'UTR|KLHL21_ENST00000377663.3_Missense_Mutation_p.D344N	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	344					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGGGAGCCATCGGACCCACCT	0.632																																						dbGAP											0													45.0	42.0	43.0					1																	6659504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1030G>A	1.37:g.6659504C>T	ENSP00000366886:p.Asp344Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D344N	ENST00000377658.4	37	c.1030	CCDS30575.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.105519	0.94245	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.78364	-1.17;-1.17	4.89	4.89	0.63831	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	L	0.48174	1.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.971;0.998	T	0.80964	-0.1147	10	0.25106	T	0.35	.	17.4356	0.87550	0.0:1.0:0.0:0.0	.	344;344	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	N	344	ENSP00000366886:D344N;ENSP00000366891:D344N	ENSP00000366886:D344N	D	-	1	0	KLHL21	6582091	1.000000	0.71417	0.246000	0.24233	0.927000	0.56198	7.629000	0.83207	2.419000	0.82065	0.655000	0.94253	GAT	KLHL21	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000162413		0.632	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL21	HGNC	protein_coding	OTTHUMT00000004188.1	17	0.00	0	C	NM_014851		6659504	6659504	-1	no_errors	ENST00000377658	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	T
MARVELD2	153562	genome.wustl.edu	37	5	68728474	68728474	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr5:68728474A>G	ENST00000325631.5	+	4	1377	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	MARVELD2_ENST00000413223.2_Missense_Mutation_p.K319E	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	435				K -> R (in Ref. 3; BAF85651). {ECO:0000305}.	cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCACATTCCTAAACCTATCGT	0.458																																						dbGAP											0													97.0	90.0	92.0					5																	68728474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1303A>G	5.37:g.68728474A>G	ENSP00000323264:p.Lys435Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom	p.K435E	ENST00000325631.5	37	c.1303	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612890	0.66672	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.52057	1.29;0.68;1.31;1.38;1.38	5.7	5.7	0.88788	.	0.047099	0.85682	D	0.000000	T	0.62962	0.2471	M	0.80746	2.51	0.51482	D	0.999929	P;D	0.54207	0.916;0.965	P;P	0.52672	0.527;0.706	T	0.67130	-0.5748	10	0.49607	T	0.09	-35.481	14.9535	0.71094	1.0:0.0:0.0:0.0	.	423;435	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	E	435;423;435;319;319	ENSP00000323264:K435E;ENSP00000396244:K423E;ENSP00000423490:K435E;ENSP00000414776:K319E;ENSP00000398922:K319E	ENSP00000323264:K435E	K	+	1	0	MARVELD2	68764230	1.000000	0.71417	0.053000	0.19242	0.227000	0.25037	8.782000	0.91809	2.175000	0.68902	0.533000	0.62120	AAA	MARVELD2	-	NULL	ENSG00000152939		0.458	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	76	0.00	0	A	NM_144724		68728474	68728474	+1	no_errors	ENST00000325631	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.991	G
NRK	203447	genome.wustl.edu	37	X	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chrX:105152945C>T	ENST00000243300.9	+	13	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_ENST00000428173.2_Nonsense_Mutation_p.R439*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	438	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)																												dbGAP											0													39.0	41.0	40.0					X																	105152945		2056	4168	6224	-	-	-	SO:0001587	stop_gained	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1312C>T	X.37:g.105152945C>T	ENSP00000434830:p.Arg438*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R439*	ENST00000243300.9	37	c.1315		X	.	.	.	.	.	.	.	.	.	.	C	39	7.343265	0.98224	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.49	1.58	0.23477	.	0.557677	0.14978	N	0.287426	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2705	0.20951	0.32:0.5859:0.0:0.0941	.	.	.	.	X	438;439	.	ENSP00000434830:R438X	R	+	1	2	NRK	105039601	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.256000	0.08757	0.188000	0.20168	0.600000	0.82982	CGA	NRK	-	NULL	ENSG00000123572		0.557	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	11	0.00	0	C	NM_198465		105152945	105152945	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	nonsense	46	20.69	12	SNP	0.001	T
TENM4	26011	genome.wustl.edu	37	11	78775887	78775887	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr11:78775887C>T	ENST00000278550.7	-	6	851	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	130	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCCCCACAGACGCACGGGGTG	0.647																																						dbGAP											0													33.0	33.0	33.0					11																	78775887		692	1591	2283	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.389G>A	11.37:g.78775887C>T	ENSP00000278550:p.Arg130His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R130H	ENST00000278550.7	37	c.389	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044462	0.93685	.	.	ENSG00000149256	ENST00000278550	T	0.45668	0.89	4.69	3.78	0.43462	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.51805	0.1696	L	0.59436	1.845	0.47065	D	0.999306	D;P	0.54397	0.966;0.887	P;B	0.55011	0.766;0.375	T	0.52177	-0.8610	9	.	.	.	.	13.5024	0.61465	0.0:0.9237:0.0:0.0763	.	130;130	G3CAT1;Q6N022	.;TEN4_HUMAN	H	130	ENSP00000278550:R130H	.	R	-	2	0	ODZ4	78453535	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	3.878000	0.56130	1.340000	0.45581	0.563000	0.77884	CGT	ODZ4	-	pfam_Ten_N	ENSG00000149256		0.647	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	14	0.00	0	C			78775887	78775887	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
PCDHB7	56129	genome.wustl.edu	37	5	140553401	140553401	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr5:140553401G>A	ENST00000231137.3	+	1	1159	c.985G>A	c.(985-987)Gga>Aga	p.G329R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCTTTCTGGAAAATGCAC	0.448																																						dbGAP											0													52.0	54.0	54.0					5																	140553401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.985G>A	5.37:g.140553401G>A	ENSP00000231137:p.Gly329Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G329R	ENST00000231137.3	37	c.985	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717768	0.48622	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.54479	0.57	4.61	3.67	0.42095	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.70193	0.3196	M	0.72894	2.215	0.09310	N	1	D	0.60575	0.988	D	0.67548	0.952	T	0.61623	-0.7025	9	0.87932	D	0	.	14.8604	0.70376	0.0:0.1442:0.8558:0.0	.	329	Q9Y5E2	PCDB7_HUMAN	R	329;112	ENSP00000231137:G329R	ENSP00000231137:G329R	G	+	1	0	PCDHB7	140533585	0.000000	0.05858	0.908000	0.35775	0.883000	0.51084	0.534000	0.23098	2.244000	0.73946	0.650000	0.86243	GGA	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113212		0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	51	0.00	0	G	NM_018940		140553401	140553401	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	0.008	A
PHACTR3	116154	genome.wustl.edu	37	20	58342410	58342410	+	Silent	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr20:58342410G>A	ENST00000371015.1	+	5	1178	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PHACTR3_ENST00000355648.4_Silent_p.P196P|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Silent_p.P234P|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Silent_p.P196P|PHACTR3_ENST00000541461.1_Silent_p.P196P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	237	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGCCCACTCCGCCACCCAAGG	0.582																																						dbGAP											0													31.0	28.0	29.0					20																	58342410		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.711G>A	20.37:g.58342410G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.P237	ENST00000371015.1	37	c.711	CCDS13480.1	20																																																																																			PHACTR3	-	NULL	ENSG00000087495		0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	19	0.00	0	G	NM_080672		58342410	58342410	+1	no_errors	ENST00000371015	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	0.667	A
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	-	-	-	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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	125	0.00	0	G			178938934	178938934	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	116	20.55	30	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	118	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	104	25.18	35	SNP	1.000	G
REEP3	221035	genome.wustl.edu	37	10	65380602	65380602	+	Silent	SNP	G	G	T	rs201536406		TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr10:65380602G>T	ENST00000373758.4	+	8	924	c.741G>T	c.(739-741)gtG>gtT	p.V247V	REEP3_ENST00000298249.4_Silent_p.V232V	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	247					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATACAAAGTGAAGAAACGAC	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13929	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													87.0	78.0	81.0					10																	65380602		1827	4076	5903	-	-	-	SO:0001819	synonymous_variant	0			BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.741G>T	10.37:g.65380602G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Silent	SNP	pfam_TB2_DP1_HVA22	p.V247	ENST00000373758.4	37	c.741	CCDS44411.1	10																																																																																			REEP3	-	NULL	ENSG00000165476		0.303	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP3	HGNC	protein_coding		187	0.00	0	G	NM_001001330		65380602	65380602	+1	no_errors	ENST00000373758	ensembl	human	known	69_37n	silent	155	19.27	37	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40705088	40705088	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr1:40705088C>T	ENST00000372771.4	+	8	4741	c.4714C>T	c.(4714-4716)Cgc>Tgc	p.R1572C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1572					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCATTACAAACGCACTCATCA	0.458																																						dbGAP											0													86.0	85.0	86.0					1																	40705088		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4714C>T	1.37:g.40705088C>T	ENSP00000361857:p.Arg1572Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1572C	ENST00000372771.4	37	c.4714	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839550	0.51057	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.17213	2.29	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.238259	0.47455	D	0.000226	T	0.39835	0.1093	L	0.51422	1.61	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;P	0.69824	0.966;0.899	T	0.02821	-1.1106	10	0.87932	D	0	-18.7074	20.5541	0.99286	0.0:1.0:0.0:0.0	.	1265;1572	F5H2M5;Q13129	.;RLF_HUMAN	C	1572;1265	ENSP00000361857:R1572C	ENSP00000361857:R1572C	R	+	1	0	RLF	40477675	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.192000	0.50989	2.864000	0.98301	0.551000	0.68910	CGC	RLF	-	smart_Znf_C2H2-like	ENSG00000117000		0.458	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	64	0.00	0	C	NM_012421		40705088	40705088	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037843	10037843	+	RNA	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chrY:10037843C>T	ENST00000515896.1	+	0	80									RNA, 5.8S ribosomal pseudogene 6																		AATTGCAGGACACATTGATCA	0.512																																						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.10037843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		20	0.00	0	C			10037843	10037843	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037883	10037883	+	RNA	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chrY:10037883G>A	ENST00000515896.1	+	0	120									RNA, 5.8S ribosomal pseudogene 6																		TGCGGCCCGGGTTCCTCCCAG	0.577																																						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.10037883G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.577	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		20	0.00	0	G			10037883	10037883	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	1.000	A
SF3B1	23451	genome.wustl.edu	37	2	198266493	198266493	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr2:198266493A>T	ENST00000335508.6	-	16	2434	c.2343T>A	c.(2341-2343)gaT>gaA	p.D781E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	781					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTCCTCATCAGGAGACT	0.323			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													80.0	84.0	83.0					2																	198266493		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2343T>A	2.37:g.198266493A>T	ENSP00000335321:p.Asp781Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.D781E	ENST00000335508.6	37	c.2343	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771919	0.69992	.	.	ENSG00000115524	ENST00000335508	T	0.68181	-0.31	5.71	3.37	0.38596	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	L	0.58925	1.835	0.80722	D	1	P	0.45957	0.869	P	0.45037	0.467	T	0.64309	-0.6438	10	0.51188	T	0.08	.	9.5652	0.39394	0.8587:0.0:0.1413:0.0	.	781	O75533	SF3B1_HUMAN	E	781	ENSP00000335321:D781E	ENSP00000335321:D781E	D	-	3	2	SF3B1	197974738	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.751000	0.55165	0.993000	0.38866	0.533000	0.62120	GAT	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	353	0.00	0	A			198266493	198266493	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	179	19.37	43	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136088052	136088052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr3:136088052G>A	ENST00000383202.2	-	24	2699	c.2443C>T	c.(2443-2445)Cag>Tag	p.Q815*	STAG1_ENST00000536929.1_Nonsense_Mutation_p.Q399*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.Q589*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.Q815*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	815					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCAAAGGCTGAAGGCCCTCT	0.433																																						dbGAP											0													90.0	89.0	89.0					3																	136088052		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2443C>T	3.37:g.136088052G>A	ENSP00000372689:p.Gln815*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q815*	ENST00000383202.2	37	c.2443	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.151681	0.97329	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.31	5.31	0.75309	.	0.267856	0.39274	N	0.001420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.5776	0.68262	0.0:0.146:0.854:0.0	.	.	.	.	X	815;815;589;399	.	ENSP00000236698:Q815X	Q	-	1	0	STAG1	137570742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.844000	0.86867	2.481000	0.83766	0.551000	0.68910	CAG	STAG1	-	NULL	ENSG00000118007		0.433	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	112	0.00	0	G	NM_005862		136088052	136088052	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	nonsense	88	33.83	45	SNP	1.000	A
SUPT6H	6830	genome.wustl.edu	37	17	27014157	27014157	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr17:27014157C>T	ENST00000314616.6	+	22	3035	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R918W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	918	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTCCCTGGCCCGGCGCATCCA	0.542																																						dbGAP											0													94.0	105.0	102.0					17																	27014157		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2752C>T	17.37:g.27014157C>T	ENSP00000319104:p.Arg918Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R918W	ENST00000314616.6	37	c.2752	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622756	0.87460	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	4.85	0.62838	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94225	0.7471	9	0.87932	D	0	-18.2791	16.0033	0.80310	0.1358:0.8642:0.0:0.0	.	918	Q7KZ85	SPT6H_HUMAN	W	918	.	ENSP00000319104:R918W	R	+	1	2	SUPT6H	24038284	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.933000	0.56545	1.446000	0.47643	0.551000	0.68910	CGG	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	32	0.00	0	C	NM_003170		27014157	27014157	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	1.000	T
ZNF99	7652	genome.wustl.edu	37	19	22940742	22940742	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A10F-01A-11D-A10M-09	TCGA-E2-A10F-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	530b7e22-e70a-46ef-a0e8-bf2ef814850a	2b190b7e-7bb6-46df-8e67-eef219faebd6	g.chr19:22940742C>A	ENST00000596209.1	-	4	2059	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	ZNF99_ENST00000397104.3_Missense_Mutation_p.A566S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.378																																						dbGAP											0													48.0	52.0	50.0					19																	22940742		2137	4252	6389	-	-	-	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1969G>T	19.37:g.22940742C>A	ENSP00000472969:p.Ala657Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A566S	ENST00000596209.1	37	c.1696	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	c	12.22	1.872479	0.33069	.	.	ENSG00000213973	ENST00000397104	T	0.01015	5.44	1.16	-0.176	0.13311	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	N	0.02368	-0.58	0.23277	N	0.997992	P	0.51351	0.944	D	0.62955	0.909	T	0.51949	-0.8640	9	0.33940	T	0.23	.	2.0293	0.03526	0.2542:0.3583:0.0:0.3874	.	566	A8MXY4	ZNF99_HUMAN	S	566	ENSP00000380293:A566S	ENSP00000380293:A566S	A	-	1	0	ZNF99	22732582	0.000000	0.05858	0.001000	0.08648	0.347000	0.29111	-2.465000	0.00995	-0.250000	0.09555	0.194000	0.17425	GCT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	75	0.00	0	C	XM_065124		22940742	22940742	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	0.824	A
