#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
ANKRD30BL	554226	genome.wustl.edu	37	2	133015110	133015110	+	5'UTR	DEL	G	G	-			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr2:133015110delG	ENST00000470729.1	-	0	432				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ACCTCATCAAGGGGGAAGTGG	0.667																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-993C>-	2.37:g.133015110delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL7	RNA	DEL	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.667	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	8	0.00	0	G	NR_027019		133015110	133015110	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	6	33.33	3	DEL	0.004	-
ANKRD36B	57730	genome.wustl.edu	37	2	98177305	98177305	+	RNA	SNP	C	C	G	rs114646833	byFrequency	TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr2:98177305C>G	ENST00000443455.1	-	0	892							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTTCTCAGCTCGTTGTTTCTG	0.294													.|||	2137	0.426717	0.3971	0.4409	5008	,	,		20099	0.4315		0.6541	False		,,,				2504	0.2178					dbGAP											0													21.0	18.0	19.0					2																	98177305		988	2012	3000	-	-	-			0			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177305C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	-	NULL	ENST00000443455.1	37	NULL		2																																																																																			ANKRD36B	-	-	ENSG00000196912		0.294	ANKRD36B-003	KNOWN	basic	processed_transcript	ANKRD36B	HGNC	pseudogene	OTTHUMT00000328967.2	23	0.00	0	C	NM_025190		98177305	98177305	-1	no_errors	ENST00000419390	ensembl	human	known	69_37n	rna	11	45.00	9	SNP	0.000	G
ATP13A4	84239	genome.wustl.edu	37	3	193174859	193174859	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr3:193174859C>T	ENST00000342695.4	-	16	2167	c.1845G>A	c.(1843-1845)atG>atA	p.M615I	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M596I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	615						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTCACCTCCCATCTCTTGGA	0.522																																						dbGAP											0													118.0	101.0	107.0					3																	193174859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1845G>A	3.37:g.193174859C>T	ENSP00000339182:p.Met615Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_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,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.W255*	ENST00000342695.4	37	c.764	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	9.845	1.192105	0.21954	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.69926	-0.44;-0.44	5.86	2.12	0.27331	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.577992	0.19166	N	0.121075	T	0.38321	0.1036	N	0.11201	0.11	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.07868	-1.0750	10	0.29301	T	0.29	-4.8183	1.3925	0.02253	0.226:0.4385:0.1151:0.2204	.	596;615;615	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	I	596;615	ENSP00000376238:M596I;ENSP00000339182:M615I	ENSP00000339182:M615I	M	-	3	0	ATP13A4	194657553	0.001000	0.12720	0.998000	0.56505	0.922000	0.55478	-0.887000	0.04152	0.117000	0.18138	-0.150000	0.13652	ATG	ATP13A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000127249		0.522	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	32	0.00	0	C	NM_032279		193174859	193174859	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428352	ensembl	human	known	69_37n	nonsense	13	53.57	15	SNP	0.988	T
COL27A1	85301	genome.wustl.edu	37	9	117038016	117038016	+	Frame_Shift_Del	DEL	C	C	-	rs545371748		TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr9:117038016delC	ENST00000356083.3	+	37	4076	c.3685delC	c.(3685-3687)cccfs	p.P1230fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1230	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGAGGACGGGCCCCCCGGCCC	0.682																																						dbGAP											0													24.0	22.0	23.0					9																	117038016		1902	3717	5619	-	-	-	SO:0001589	frameshift_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3685delC	9.37:g.117038016delC	ENSP00000348385:p.Pro1230fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G1231fs	ENST00000356083.3	37	c.3685	CCDS6802.1	9																																																																																			COL27A1	-	pfam_Collagen	ENSG00000196739		0.682	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	12	0.00	0	C	NM_032888		117038016	117038016	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.998	-
CRIM1	51232	genome.wustl.edu	37	2	36740755	36740755	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr2:36740755G>A	ENST00000280527.2	+	11	2204	c.1837G>A	c.(1837-1839)Ggt>Agt	p.G613S	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	613	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACCGTGGATGGTCATCATCA	0.567																																						dbGAP											0													91.0	90.0	90.0					2																	36740755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1837G>A	2.37:g.36740755G>A	ENSP00000280527:p.Gly613Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.G613S	ENST00000280527.2	37	c.1837	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.441074	0.96187	.	.	ENSG00000150938	ENST00000280527	T	0.72835	-0.69	5.39	5.39	0.77823	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89154	0.3525	10	0.72032	D	0.01	-23.3893	18.1723	0.89749	0.0:0.0:1.0:0.0	.	613	Q9NZV1	CRIM1_HUMAN	S	613	ENSP00000280527:G613S	ENSP00000280527:G613S	G	+	1	0	CRIM1	36594259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.537000	0.85549	0.655000	0.94253	GGT	CRIM1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.567	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	39	0.00	0	G	NM_016441		36740755	36740755	+1	no_errors	ENST00000280527	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
CYP11B2	1585	genome.wustl.edu	37	8	143998609	143998609	+	Silent	SNP	G	G	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr8:143998609G>A	ENST00000323110.2	-	2	263	c.261C>T	c.(259-261)cgC>cgT	p.R87R		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	87					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CACACACCATGCGTGGTCCTC	0.622									Familial Hyperaldosteronism type I																													dbGAP											0													143.0	121.0	128.0					8																	143998609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.261C>T	8.37:g.143998609G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE4|Q16726	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R87	ENST00000323110.2	37	c.261	CCDS6393.1	8																																																																																			CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000179142		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	53	0.00	0	G			143998609	143998609	-1	no_errors	ENST00000323110	ensembl	human	known	69_37n	silent	79	22.55	23	SNP	0.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96684718	96684718	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chrX:96684718G>A	ENST00000324765.8	+	26	3562	c.3215G>A	c.(3214-3216)cGt>cAt	p.R1072H	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R1072H|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R1068H|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R1072H|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R1072H			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1072	Arg/Lys-rich (basic).|DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTCAGAGACCGTCGAAAGCGG	0.403																																						dbGAP											0													75.0	67.0	69.0					X																	96684718		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3215G>A	X.37:g.96684718G>A	ENSP00000321348:p.Arg1072His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.R1072H	ENST00000324765.8	37	c.3215	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991294	0.74703	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.82526	-1.62;-1.62;-1.57;-1.56;-1.62	5.31	5.31	0.75309	Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	M	0.72894	2.215	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91526	0.5238	10	0.66056	D	0.02	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	1072;1072	O60879;O60879-2	DIAP2_HUMAN;.	H	1072;1068;1072;1072;1072;1079	ENSP00000362152:R1072H;ENSP00000362145:R1068H;ENSP00000348082:R1072H;ENSP00000362140:R1072H;ENSP00000321348:R1072H	ENSP00000321348:R1072H	R	+	2	0	DIAPH2	96571374	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	8.380000	0.90149	2.351000	0.79841	0.600000	0.82982	CGT	DIAPH2	-	NULL	ENSG00000147202		0.403	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	43	0.00	0	G	NM_006729, NM_007309		96684718	96684718	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	1.000	A
FRRS1	391059	genome.wustl.edu	37	1	100177672	100177672	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr1:100177672C>T	ENST00000414213.1	-	14	2070	c.1469G>A	c.(1468-1470)aGa>aAa	p.R490K	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.R490K			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	490	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGCTATTATTCTAGCAGCTGT	0.323																																						dbGAP											0													137.0	143.0	141.0					1																	100177672		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1469G>A	1.37:g.100177672C>T	ENSP00000393884:p.Arg490Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R490K	ENST00000414213.1	37	c.1469		1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917647	0.52546	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.31	5.31	0.75309	.	0.104466	0.64402	D	0.000003	T	0.44307	0.1287	L	0.45422	1.42	0.48288	D	0.99962	B	0.24483	0.104	B	0.27887	0.084	T	0.37126	-0.9719	9	0.22706	T	0.39	-26.222	18.9397	0.92600	0.0:1.0:0.0:0.0	.	490	Q6ZNA5-2	.	K	490	.	ENSP00000287474:R490K	R	-	2	0	FRRS1	99950260	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.427000	0.66483	2.641000	0.89580	0.650000	0.86243	AGA	FRRS1	-	smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000156869		0.323	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		71	0.00	0	C	NM_001013660		100177672	100177672	-1	no_errors	ENST00000287474	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	1.000	T
GGT3P	2679	genome.wustl.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818	byFrequency	TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGCCAGCCGCGGCAGGGTCAG	0.637													g|||	253	0.0505192	0.0068	0.0908	5008	,	,		47818	0.0079		0.1213	False		,,,				2504	0.0521					dbGAP											0																																										-	-	-			0					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769203G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-	ENSG00000197421		0.637	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	37	0.00	0	G	NR_003267		18769203	18769203	-1	no_errors	ENST00000412448	ensembl	human	known	69_37n	rna	21	22.22	6	SNP	0.149	A
ITPR1	3708	genome.wustl.edu	37	3	4774809	4774809	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr3:4774809A>G	ENST00000443694.2	+	40	5213	c.5213A>G	c.(5212-5214)tAt>tGt	p.Y1738C	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.Y1705C|ITPR1_ENST00000354582.6_Missense_Mutation_p.Y1738C|ITPR1_ENST00000302640.8_Missense_Mutation_p.Y1738C|ITPR1_ENST00000357086.4_Missense_Mutation_p.Y1705C|ITPR1_ENST00000456211.2_Missense_Mutation_p.Y1690C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1753					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACCGTTACTATGGAAACGTC	0.522																																						dbGAP											0													71.0	71.0	71.0					3																	4774809		1962	4134	6096	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5213A>G	3.37:g.4774809A>G	ENSP00000401671:p.Tyr1738Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Y1738C	ENST00000443694.2	37	c.5213	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660901	0.88154	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.69142	0.962;0.879	D	0.95561	0.8629	10	0.87932	D	0	.	16.0068	0.80367	1.0:0.0:0.0:0.0	.	1753;1705	Q14643;G5E9P1	ITPR1_HUMAN;.	C	1753;1738;1738;1705;199;1705;1690;1738	ENSP00000306253:Y1738C;ENSP00000346595:Y1738C;ENSP00000405934:Y1705C;ENSP00000349597:Y1705C;ENSP00000397885:Y1690C;ENSP00000401671:Y1738C	ENSP00000306253:Y1738C	Y	+	2	0	ITPR1	4749809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.600000	0.90860	2.241000	0.73720	0.482000	0.46254	TAT	ITPR1	-	NULL	ENSG00000150995		0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	41	0.00	0	A	NM_002222		4774809	4774809	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	G
KIF26A	26153	genome.wustl.edu	37	14	104641403	104641403	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr14:104641403C>T	ENST00000423312.2	+	12	2278	c.2278C>T	c.(2278-2280)Cgc>Tgc	p.R760C	KIF26A_ENST00000315264.7_Missense_Mutation_p.R621C	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	760					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTTCCACCCACGCACTGTGGC	0.687																																						dbGAP											0													17.0	21.0	20.0					14																	104641403		2021	4152	6173	-	-	-	SO:0001583	missense	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2278C>T	14.37:g.104641403C>T	ENSP00000388241:p.Arg760Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R760C	ENST00000423312.2	37	c.2278	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276129	0.59649	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	D;D	0.82893	-1.66;-1.65	3.89	3.89	0.44902	.	.	.	.	.	D	0.89354	0.6691	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	9	0.87932	D	0	.	10.5761	0.45227	0.338:0.662:0.0:0.0	.	760	Q9ULI4	KI26A_HUMAN	C	760;621	ENSP00000388241:R760C;ENSP00000325452:R621C	ENSP00000325452:R621C	R	+	1	0	KIF26A	103711156	0.996000	0.38824	0.020000	0.16555	0.471000	0.32888	3.330000	0.52068	1.881000	0.54492	0.462000	0.41574	CGC	KIF26A	-	NULL	ENSG00000066735		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	14	0.00	0	C			104641403	104641403	+1	no_errors	ENST00000423312	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.956	T
MAP3K1	4214	genome.wustl.edu	37	5	56178143	56178144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr5:56178143_56178144insA	ENST00000399503.3	+	14	3116_3117	c.3116_3117insA	c.(3115-3120)tcagatfs	p.D1040fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1040					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AACAAAGACTCAGATAAACTTT	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3117dupA	5.37:g.56178144_56178144dupA	ENSP00000382423:p.Asp1040fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.D1040fs	ENST00000399503.3	37	c.3116_3117	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.446	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	25	0.00	0	-	XM_042066		56178143	56178144	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	11	42.11	8	INS	1.000:0.996	A
MBTD1	54799	genome.wustl.edu	37	17	49270817	49270817	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr17:49270817A>G	ENST00000586178.1	-	14	1770	c.1427T>C	c.(1426-1428)aTt>aCt	p.I476T	MBTD1_ENST00000415868.1_Missense_Mutation_p.I476T|MBTD1_ENST00000376381.2_Silent_p.L427L	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	476					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGGTGCTGCAATGGAGCCAGT	0.318																																						dbGAP											0													58.0	56.0	57.0					17																	49270817		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1427T>C	17.37:g.49270817A>G	ENSP00000468304:p.Ile476Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.I476T	ENST00000586178.1	37	c.1427	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072794	0.20147	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.42131	0.98	5.49	4.4	0.53042	.	0.226233	0.43747	N	0.000527	T	0.24160	0.0585	N	0.11313	0.125	0.80722	D	1	B;B	0.17038	0.001;0.02	B;B	0.14578	0.005;0.011	T	0.03576	-1.1023	10	0.28530	T	0.3	.	12.067	0.53594	0.8707:0.0:0.0:0.1292	.	476;312	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	T	476	ENSP00000403946:I476T	ENSP00000386072:I476T	I	-	2	0	MBTD1	46625816	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.526000	0.81920	0.988000	0.38734	-0.344000	0.07964	ATT	MBTD1	-	smart_Mbt,pfscan_Mbt	ENSG00000011258		0.318	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	45	0.00	0	A			49270817	49270817	-1	no_errors	ENST00000415868	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	G
MEGF8	1954	genome.wustl.edu	37	19	42848602	42848602	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr19:42848602G>A	ENST00000251268.6	+	11	1798	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	MEGF8_ENST00000334370.4_Missense_Mutation_p.A600T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	600	PSI 1.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTCCAGCCGCCAGCTGCCT	0.672																																						dbGAP											0													30.0	35.0	33.0					19																	42848602		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1798G>A	19.37:g.42848602G>A	ENSP00000251268:p.Ala600Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.A600T	ENST00000251268.6	37	c.1798		19	.	.	.	.	.	.	.	.	.	.	G	5.815	0.334624	0.11013	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19250	2.16;2.19	4.85	4.85	0.62838	.	0.071726	0.56097	D	0.000033	T	0.04861	0.0131	N	0.01874	-0.695	0.80722	D	1	P;B	0.36144	0.539;0.128	B;B	0.16722	0.016;0.011	T	0.36625	-0.9740	10	0.02654	T	1	-17.9407	9.1561	0.36994	0.1006:0.0:0.8994:0.0	.	600;600	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	T	600	ENSP00000334219:A600T;ENSP00000251268:A600T	ENSP00000251268:A600T	A	+	1	0	MEGF8	47540442	0.634000	0.27190	0.987000	0.45799	0.849000	0.48306	2.165000	0.42396	2.251000	0.74343	0.306000	0.20318	GCC	MEGF8	-	smart_Plexin-like	ENSG00000105429		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	19	0.00	0	G	NM_001410		42848602	42848602	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	0.805	A
NLGN3	54413	genome.wustl.edu	37	X	70389880	70389880	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chrX:70389880A>C	ENST00000358741.3	+	8	2783	c.2480A>C	c.(2479-2481)tAt>tCt	p.Y827S	NLGN3_ENST00000536169.1_Missense_Mutation_p.Y787S|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.Y807S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	827					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTGCACCCCTATAACACCTTT	0.592																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													88.0	64.0	72.0					X																	70389880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2480A>C	X.37:g.70389880A>C	ENSP00000351591:p.Tyr827Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.Y827S	ENST00000358741.3	37	c.2480	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024260	0.35701	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.66280	-0.19;-0.2;-0.19	4.99	4.99	0.66335	.	0.059857	0.64402	D	0.000002	T	0.60130	0.2245	L	0.36672	1.1	0.53005	D	0.999961	B;P;P	0.36647	0.435;0.563;0.523	B;B;B	0.43990	0.322;0.334;0.438	T	0.64807	-0.6320	10	0.72032	D	0.01	.	13.5973	0.61998	1.0:0.0:0.0:0.0	.	787;827;807	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	S	787;807;827	ENSP00000445298:Y787S;ENSP00000363163:Y807S;ENSP00000351591:Y827S	ENSP00000351591:Y827S	Y	+	2	0	NLGN3	70306605	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.768000	0.47645	1.869000	0.54173	0.427000	0.28365	TAT	NLGN3	-	NULL	ENSG00000196338		0.592	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	36	0.00	0	A	NM_018977		70389880	70389880	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	C
PLEKHG2	64857	genome.wustl.edu	37	19	39905892	39905892	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr19:39905892A>T	ENST00000409794.3	+	3	1220	c.370A>T	c.(370-372)Atc>Ttc	p.I124F	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.I124F|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.I124F|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.I65F|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.I124F	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	124	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCCGCAGCATCGTGGAGGT	0.657																																						dbGAP											0													37.0	34.0	35.0					19																	39905892		2200	4296	6496	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.370A>T	19.37:g.39905892A>T	ENSP00000386733:p.Ile124Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I124F	ENST00000409794.3	37	c.370	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189470	0.57909	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000438123;ENST00000409797;ENST00000451354	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;1.42;-0.32;-0.32	4.63	2.49	0.30216	Dbl homology (DH) domain (5);	0.099955	0.35838	N	0.002944	T	0.80243	0.4587	M	0.88310	2.945	0.43099	D	0.994782	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.994	T	0.77230	-0.2664	10	0.87932	D	0	.	4.5369	0.12038	0.7:0.1968:0.1032:0.0	.	124;65;124	Q9H7P9;E7ESZ3;Q9H7P9-2	PKHG2_HUMAN;.;.	F	124;124;124;65;125;124;125	ENSP00000386733:I124F;ENSP00000392906:I124F;ENSP00000367812:I124F;ENSP00000408857:I65F;ENSP00000397615:I125F;ENSP00000386492:I124F;ENSP00000412818:I125F	ENSP00000367812:I124F	I	+	1	0	PLEKHG2	44597732	1.000000	0.71417	0.994000	0.49952	0.342000	0.28953	5.804000	0.69135	0.276000	0.22118	0.402000	0.26972	ATC	PLEKHG2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000090924		0.657	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	20	0.00	0	A	NM_022835		39905892	39905892	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	T
PNPLA8	50640	genome.wustl.edu	37	7	108155179	108155179	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr7:108155179T>C	ENST00000422087.1	-	4	1163	c.757A>G	c.(757-759)Atc>Gtc	p.I253V	PNPLA8_ENST00000426128.2_Missense_Mutation_p.I253V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.I253V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.I153V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.I253V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.I253V|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	253					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TAAGCCAGGATGCCAGGATCT	0.403																																						dbGAP											0													74.0	71.0	72.0					7																	108155179		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.757A>G	7.37:g.108155179T>C	ENSP00000410804:p.Ile253Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.I253V	ENST00000422087.1	37	c.757	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	T	0	-2.664339	0.00107	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97731	-3.32;-4.51;-3.32;-4.51;-4.51;-4.51;-4.51	5.48	-4.03	0.04021	.	1.901050	0.01775	N	0.031397	D	0.92616	0.7654	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.88684	0.3204	10	0.12103	T	0.63	.	8.3109	0.32071	0.0:0.4623:0.1065:0.4312	.	253	Q9NP80	PLPL8_HUMAN	V	253;253;253;253;153;253;153	ENSP00000394988:I253V;ENSP00000257694:I253V;ENSP00000373380:I253V;ENSP00000410804:I253V;ENSP00000387789:I153V;ENSP00000406779:I253V;ENSP00000402274:I153V	ENSP00000257694:I253V	I	-	1	0	PNPLA8	107942415	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.339000	0.01102	-0.624000	0.05611	-0.326000	0.08463	ATC	PNPLA8	-	NULL	ENSG00000135241		0.403	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	49	0.00	0	T	NM_015723		108155179	108155179	-1	no_errors	ENST00000257694	ensembl	human	known	69_37n	missense	28	39.13	18	SNP	0.000	C
PRPF4B	8899	genome.wustl.edu	37	6	4056666	4056666	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr6:4056666A>G	ENST00000337659.6	+	12	2678	c.2578A>G	c.(2578-2580)Atc>Gtc	p.I860V	PRPF4B_ENST00000538861.1_Missense_Mutation_p.I846V	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	860	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TGCTCCTGAAATCAGTAAGTT	0.398																																						dbGAP											0													147.0	145.0	146.0					6																	4056666		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2578A>G	6.37:g.4056666A>G	ENSP00000337194:p.Ile860Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I860V	ENST00000337659.6	37	c.2578	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460305	0.84317	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.61392	0.11;0.11	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.51635	0.1686	N	0.17872	0.535	0.80722	D	1	P	0.47604	0.898	D	0.68192	0.956	T	0.51568	-0.8689	10	0.20046	T	0.44	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	860	Q13523	PRP4B_HUMAN	V	860;846	ENSP00000337194:I860V;ENSP00000439331:I846V	ENSP00000337194:I860V	I	+	1	0	PRPF4B	4001665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	ATC	PRPF4B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112739		0.398	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	76	0.00	0	A			4056666	4056666	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	missense	55	31.25	25	SNP	1.000	G
PRPF8	10594	genome.wustl.edu	37	17	1576724	1576724	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr17:1576724C>T	ENST00000572621.1	-	22	3849	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1195	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCAGGATGCGGCACTCGAA	0.572																																						dbGAP											0													141.0	111.0	121.0					17																	1576724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3584G>A	17.37:g.1576724C>T	ENSP00000460348:p.Arg1195His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.R1195H	ENST00000572621.1	37	c.3584	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.548538	0.96488	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95669	0.8722	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1195	Q6P2Q9	PRP8_HUMAN	H	1195	ENSP00000304350:R1195H	ENSP00000304350:R1195H	R	-	2	0	PRPF8	1523474	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.814000	0.86154	2.879000	0.98667	0.650000	0.86243	CGC	PRPF8	-	superfamily_Cupredoxin	ENSG00000174231		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	38	0.00	0	C			1576724	1576724	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
SMCHD1	23347	genome.wustl.edu	37	18	2707824	2707827	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	ACTG	ACTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr18:2707824_2707827delACTG	ENST00000320876.6	+	17	2504_2507	c.2166_2169delACTG	c.(2164-2169)atactgfs	p.IL722fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.IL722fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	722					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAATTGAAATACTGAATAAAAAAG	0.338																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2166_2169delACTG	18.37:g.2707824_2707827delACTG	ENSP00000326603:p.Ile722fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.L723fs	ENST00000320876.6	37	c.2166_2169	CCDS45822.1	18																																																																																			SMCHD1	-	NULL	ENSG00000101596		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	30	0.00	0	ACTG			2707824	2707827	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	frame_shift_del	23	11.54	3	DEL	1.000:0.999:1.000:1.000	-
TIPARP	25976	genome.wustl.edu	37	3	156396272	156396272	+	Silent	SNP	T	T	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr3:156396272T>A	ENST00000461166.1	+	2	1374	c.786T>A	c.(784-786)acT>acA	p.T262T	TIPARP_ENST00000295924.7_Silent_p.T262T|TIPARP_ENST00000486483.1_Silent_p.T262T|TIPARP_ENST00000542783.1_Silent_p.T262T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	262					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCACCACACTGTCTTGCCAT	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	dbGAP											0													131.0	134.0	133.0					3																	156396272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.786T>A	3.37:g.156396272T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T262	ENST00000461166.1	37	c.786	CCDS3177.1	3																																																																																			TIPARP	-	NULL	ENSG00000163659		0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	HGNC	protein_coding	OTTHUMT00000351618.1	37	0.00	0	T	NM_015508		156396272	156396272	+1	no_errors	ENST00000295924	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.105	A
WDR76	79968	genome.wustl.edu	37	15	44158472	44158472	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr15:44158472G>T	ENST00000263795.6	+	13	1833	c.1763G>T	c.(1762-1764)gGt>gTt	p.G588V	Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.G524V	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	588										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CATTCGTTTGGTGGAGAATAC	0.468																																						dbGAP											0													213.0	170.0	184.0					15																	44158472		2198	4298	6496	-	-	-	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1763G>T	15.37:g.44158472G>T	ENSP00000263795:p.Gly588Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G588V	ENST00000263795.6	37	c.1763	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971970	0.18736	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.64438	-0.1;-0.1	5.96	-7.85	0.01192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.648385	0.16418	N	0.215306	T	0.44307	0.1287	M	0.77313	2.365	0.09310	N	0.999999	P	0.34462	0.454	B	0.28849	0.095	T	0.40553	-0.9557	10	0.16420	T	0.52	-24.0449	2.7437	0.05260	0.3312:0.0642:0.3489:0.2558	.	588	Q9H967	WDR76_HUMAN	V	588;524	ENSP00000263795:G588V;ENSP00000370645:G524V	ENSP00000263795:G588V	G	+	2	0	WDR76	41945764	0.000000	0.05858	0.001000	0.08648	0.439000	0.31926	-2.092000	0.01354	-0.952000	0.03649	-0.136000	0.14681	GGT	WDR76	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000092470		0.468	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	68	0.00	0	G	NM_024908		44158472	44158472	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.000	T
ZDBF2	57683	genome.wustl.edu	37	2	207170549	207170549	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P6-01A-11D-A142-09	TCGA-EW-A1P6-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eef5cea9-82f6-4001-8e2c-701e43a9787a	9363f17c-f3ba-4219-8de9-15f0cf99dcd2	g.chr2:207170549G>A	ENST00000374423.3	+	5	1683	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	433							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTTCCAAGGAAGTACGTAC	0.353																																						dbGAP											0													86.0	84.0	84.0					2																	207170549		1848	4097	5945	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1297G>A	2.37:g.207170549G>A	ENSP00000363545:p.Glu433Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E433K	ENST00000374423.3	37	c.1297	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023340	0.19433	.	.	ENSG00000204186	ENST00000374423	T	0.61392	0.11	3.61	1.82	0.25136	.	0.230480	0.22362	N	0.061073	T	0.38241	0.1033	N	0.25647	0.755	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.18366	-1.0339	10	0.37606	T	0.19	.	5.8618	0.18752	0.2401:0.0:0.7599:0.0	.	433	Q9HCK1	ZDBF2_HUMAN	K	433	ENSP00000363545:E433K	ENSP00000363545:E433K	E	+	1	0	ZDBF2	206878794	0.040000	0.19996	0.013000	0.15412	0.001000	0.01503	0.301000	0.19174	0.523000	0.28482	-0.143000	0.13931	GAA	ZDBF2	-	NULL	ENSG00000204186		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	33	0.00	0	G	NM_020923		207170549	207170549	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	0.016	A
