#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
AASDH	132949	genome.wustl.edu	37	4	57216157	57216157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr4:57216157delC	ENST00000205214.6	-	11	1940	c.1760delG	c.(1759-1761)ggafs	p.G587fs	AASDH_ENST00000513376.1_Frame_Shift_Del_p.G487fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.G587fs|AASDH_ENST00000502617.1_Frame_Shift_Del_p.G587fs|AASDH_ENST00000434343.2_Frame_Shift_Del_p.G102fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.G434fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	587	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAAGGAATCTCCACCACTATT	0.408																																						dbGAP											0													32.0	32.0	32.0					4																	57216157		2160	4284	6444	-	-	-	SO:0001589	frameshift_variant	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1760delG	4.37:g.57216157delC	ENSP00000205214:p.Gly587fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.G587fs	ENST00000205214.6	37	c.1760	CCDS3504.1	4																																																																																			AASDH	-	pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like	ENSG00000157426		0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	35	0.00	0	C	NM_181806		57216157	57216157	-1	no_errors	ENST00000205214	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
ABCA13	154664	genome.wustl.edu	37	7	48494768	48494768	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr7:48494768G>T	ENST00000435803.1	+	43	12724	c.12700G>T	c.(12700-12702)Gtc>Ttc	p.V4234F	ABCA13_ENST00000544596.1_5'UTR	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4234					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTGCTGCCAGTCCTCTTCGT	0.687																																						dbGAP											0													17.0	22.0	20.0					7																	48494768		2079	4210	6289	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12700G>T	7.37:g.48494768G>T	ENSP00000411096:p.Val4234Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V4234F	ENST00000435803.1	37	c.12700	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	19.07	3.754985	0.69648	.	.	ENSG00000179869	ENST00000435803;ENST00000411975	D;D	0.93247	-2.21;-3.19	5.19	4.31	0.51392	.	0.157191	0.29473	N	0.012052	D	0.96059	0.8716	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.922	D	0.95819	0.8848	10	0.72032	D	0.01	.	10.2246	0.43218	0.0922:0.0:0.9078:0.0	.	1936;4234	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	F	4234;37	ENSP00000411096:V4234F;ENSP00000391042:V37F	ENSP00000391042:V37F	V	+	1	0	ABCA13	48465314	0.998000	0.40836	0.593000	0.28771	0.882000	0.50991	3.236000	0.51336	1.323000	0.45263	0.561000	0.74099	GTC	ABCA13	-	NULL	ENSG00000179869		0.687	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	10	0.00	0	G	NM_152701		48494768	48494768	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.708	T
ANKRD30BP2	149992	genome.wustl.edu	37	21	14424153	14424153	+	IGR	SNP	C	C	A	rs10439727	byFrequency	TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr21:14424153C>A								RNU6-614P (4143 upstream) : AL050302.1 (317777 downstream)																							GAGGCTGCACCCTTGGCGGAA	0.443																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															21.37:g.14424153C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		21																																																																																			ANKRD30BP2	-	-	ENSG00000224309	0	0.443					ANKRD30BP2	HGNC			8	0.00	0	C			14424153	14424153	+1	no_errors	ENST00000471407	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.013	A
ARHGEF1	9138	genome.wustl.edu	37	19	42410160	42410160	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr19:42410160C>T	ENST00000354532.3	+	26	2622	c.2474C>T	c.(2473-2475)gCc>gTc	p.A825V	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A792V|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A840V|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.A881V|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A807V	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	825					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CAGCTCGCTGCCACGGCCCTT	0.622																																						dbGAP											0													44.0	45.0	45.0					19																	42410160		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2474C>T	19.37:g.42410160C>T	ENSP00000346532:p.Ala825Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A807V	ENST00000354532.3	37	c.2420	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246153	0.80024	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.70399	-0.39;-0.35;-0.4;-0.48	4.1	4.1	0.47936	.	0.216085	0.31404	N	0.007706	T	0.74496	0.3724	L	0.32530	0.975	0.28042	N	0.933705	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.80764	0.985;0.994;0.994;0.985	T	0.67078	-0.5761	10	0.41790	T	0.15	-17.2296	12.239	0.54532	0.0:1.0:0.0:0.0	.	807;840;792;825	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	V	825;792;840;807	ENSP00000346532:A825V;ENSP00000344429:A792V;ENSP00000337261:A840V;ENSP00000367394:A807V	ENSP00000337261:A840V	A	+	2	0	ARHGEF1	47102000	0.828000	0.29307	0.800000	0.32199	0.987000	0.75469	1.253000	0.32886	2.008000	0.58898	0.550000	0.68814	GCC	ARHGEF1	-	NULL	ENSG00000076928		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	44	0.00	0	C	NM_199002		42410160	42410160	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	0.992	T
C9orf43	257169	genome.wustl.edu	37	9	116187645	116187646	+	In_Frame_Ins	INS	-	-	GCA	rs374165893|rs527300639|rs371732185		TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr9:116187645_116187646insGCA	ENST00000288462.4	+	10	1333_1334	c.887_888insGCA	c.(886-891)cggcag>cgGCAgcag	p.304_305insQ	C9orf43_ENST00000374165.1_In_Frame_Ins_p.304_305insQ	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcagc	0.55																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.906_908dupGCA	9.37:g.116187652_116187654dupGCA	ENSP00000288462:p.Gln304_Gln304dup	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	NULL	p.300in_frame_insQ	ENST00000288462.4	37	c.887_888	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.550	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	109	0.91	1	-	NM_152786		116187645	116187646	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	in_frame_ins	135	20.59	35	INS	0.000:0.211	GCA
CACNA1D	776	genome.wustl.edu	37	3	53765129	53765131	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	AAC	AAC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr3:53765129_53765131delAAC	ENST00000350061.5	+	17	2873_2875	c.2362_2364delAAC	c.(2362-2364)aacdel	p.N789del	CACNA1D_ENST00000288139.4_In_Frame_Del_p.N809del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.N789del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	789					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAATAAAAAGAACAACAAACCAG	0.355																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2362_2364delAAC	3.37:g.53765132_53765134delAAC	ENSP00000288133:p.Asn789del	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.N809in_frame_del	ENST00000350061.5	37	c.2422_2424	CCDS46848.1	3																																																																																			CACNA1D	-	prints_LVDCC_a1dsu	ENSG00000157388		0.355	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	149	0.00	0	AAC	NM_000720		53765129	53765131	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	in_frame_del	67	21.18	18	DEL	1.000:1.000:1.000	-
CACNA2D2	9254	genome.wustl.edu	37	3	50413608	50413608	+	Silent	SNP	G	G	A			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr3:50413608G>A	ENST00000479441.1	-	18	1637	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	CACNA2D2_ENST00000395083.1_Silent_p.N546N|CACNA2D2_ENST00000424201.2_Silent_p.N546N|CACNA2D2_ENST00000435965.1_Silent_p.N546N|CACNA2D2_ENST00000266039.3_Silent_p.N546N|CACNA2D2_ENST00000360963.3_Silent_p.N477N|CACNA2D2_ENST00000429770.1_Silent_p.N546N|CACNA2D2_ENST00000423994.2_Silent_p.N546N			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	546	Cache.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACACATAGCCGTTGGCTCCAA	0.622																																						dbGAP											0													65.0	58.0	61.0					3																	50413608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1638C>T	3.37:g.50413608G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.N546	ENST00000479441.1	37	c.1638	CCDS54588.1	3																																																																																			CACNA2D2	-	pfam_Cache_domain	ENSG00000007402		0.622	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	78	0.00	0	G	NM_006030		50413608	50413608	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	silent	81	28.95	33	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88474172	88474172	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr12:88474172C>T	ENST00000552810.1	-	38	5356	c.5013G>A	c.(5011-5013)caG>caA	p.Q1671Q	CEP290_ENST00000547691.2_Splice_Site_p.Q731Q|CEP290_ENST00000397838.3_Splice_Site_p.Q731Q|CEP290_ENST00000309041.7_Splice_Site_p.Q1673Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1671					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTCTTGAAGCCTGATGTAAA	0.378																																						dbGAP											0													100.0	88.0	92.0					12																	88474172		1812	4074	5886	-	-	-	SO:0001630	splice_region_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5013-1G>A	12.37:g.88474172C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	NULL	p.Q1673	ENST00000552810.1	37	c.5019	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.378	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	196	0.00	0	C	NM_025114	Silent	88474172	88474172	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	silent	99	26.12	35	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113841931	113841931	+	Silent	SNP	T	T	G			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr8:113841931T>G	ENST00000297405.5	-	12	2087	c.1843A>C	c.(1843-1845)Agg>Cgg	p.R615R	CSMD3_ENST00000343508.3_Silent_p.R575R|CSMD3_ENST00000455883.2_Silent_p.R511R|CSMD3_ENST00000352409.3_Silent_p.R615R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	615	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCACTGTCCTAGGATCTCCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													101.0	92.0	95.0					8																	113841931		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1843A>C	8.37:g.113841931T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R615	ENST00000297405.5	37	c.1843	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	151	0.00	0	T	NM_052900		113841931	113841931	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	silent	164	37.64	99	SNP	0.991	G
DNAH12	201625	genome.wustl.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254																																						dbGAP											2	Deletion - Frameshift(2)	lung(2)							,	40,140,4046		0,0,40,1,138,1934	20.0	22.0	21.0		,	4.3	1.0	3	dbSNP_126	21	45,231,7912		0,0,45,1,229,3819	no	codingComplex,codingComplex	DNAH12	NM_198564.3,NM_178504.4	,	0,0,85,2,367,5753	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3708,4.2593,3.6733	,	,	57509313	85,371,11958	2183	4274	6457	-	-	-	SO:0001589	frameshift_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.276delA	3.37:g.57509313delT	ENSP00000295937:p.Lys92fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G93fs	ENST00000351747.2	37	c.276		3																																																																																			DNAH12	-	NULL	ENSG00000174844		0.254	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		67	0.00	0	T	NM_178504		57509313	57509313	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	frame_shift_del	16	15.79	3	DEL	1.000	-
FBXO18	84893	genome.wustl.edu	37	10	5937117	5937117	+	Intron	SNP	G	G	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr10:5937117G>T	ENST00000362091.4	+	1	116				FBXO18_ENST00000379999.5_Missense_Mutation_p.A41S|FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A41T(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGACGAGTGCCCACTTGCT	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	58.0	61.0					10																	5937117		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1+4808G>T	10.37:g.5937117G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A41S	ENST00000362091.4	37	c.121	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756108	0.31137	.	.	ENSG00000134452	ENST00000379999	.	.	.	3.78	-0.0978	0.13631	.	1.628900	0.04297	N	0.346721	T	0.25344	0.0616	.	.	.	0.09310	N	0.999999	B	0.18310	0.027	B	0.23574	0.047	T	0.18618	-1.0331	8	0.16420	T	0.52	0.0442	6.119	0.20142	0.4574:0.0:0.5426:0.0	.	41	Q8NFZ0-2	.	S	41	.	ENSP00000369335:A41S	A	+	1	0	FBXO18	5977123	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.211000	0.17474	-0.019000	0.14055	0.655000	0.94253	GCC	FBXO18	-	NULL	ENSG00000134452		0.542	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	27	0.00	0	G	NM_032807		5937117	5937117	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.000	T
IGHM	3507	genome.wustl.edu	37	14	106321751	106321751	+	RNA	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr14:106321751C>T	ENST00000390559.2	-	0	482				AL122127.4_ENST00000581720.1_RNA|AL122127.2_ENST00000581918.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.1_ENST00000581354.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCACCTGGTCCGTGGTGACGC	0.622																																						dbGAP											0													64.0	67.0	66.0					14																	106321751		2178	4238	6416	-	-	-			0			X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321751C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P20769	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	p.T161	ENST00000390559.2	37	c.483		14																																																																																			IGHM	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211899		0.622	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHM	HGNC	IG_C_gene	OTTHUMT00000326272.1	58	0.00	0	C	NG_001019		106321751	106321751	-1	no_start_codon	ENST00000390559	ensembl	human	known	69_37n	silent	118	26.25	42	SNP	0.000	T
KCNQ2	3785	genome.wustl.edu	37	20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr20:62038263C>T	ENST00000359125.2	-	17	2527	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D793N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATGGACGTGTCGCTGTCCCGC	0.672																																						dbGAP											0													47.0	31.0	36.0					20																	62038263		2192	4298	6490	-	-	-	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2353G>A	20.37:g.62038263C>T	ENSP00000352035:p.Asp785Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D793N	ENST00000359125.2	37	c.2377	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.595522	0.96602	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.52573	1.65	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75274	-0.3375	10	0.72032	D	0.01	-0.678	18.1678	0.89734	0.0:1.0:0.0:0.0	.	757;767;754;785	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	767;785;755;793;785;754;757;781;793	ENSP00000349789:D767N;ENSP00000352035:D785N;ENSP00000359246:D755N;ENSP00000346601:D793N;ENSP00000352718:D785N;ENSP00000399612:D754N;ENSP00000353668:D757N;ENSP00000339611:D781N;ENSP00000359244:D793N	ENSP00000339611:D781N	D	-	1	0	KCNQ2	61508707	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.693000	0.68264	2.305000	0.77605	0.491000	0.48974	GAC	KCNQ2	-	pfam_Ankyrin-G_BS	ENSG00000075043		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	12	0.00	0	C	NM_172109		62038263	62038263	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	T
MLLT4	4301	genome.wustl.edu	37	6	168312077	168312077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr6:168312077C>T	ENST00000447894.2	+	15	1945	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*	MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q649*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q649*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Q649*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q633*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q649*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q648*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	649					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATTGTCCAACCAGTACAGACC	0.428			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													119.0	108.0	112.0					6																	168312077		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1945C>T	6.37:g.168312077C>T	ENSP00000404595:p.Gln649*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q649*	ENST00000447894.2	37	c.1945		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.736042|7.736042	0.98462|0.98462	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.218772	.|0.40064	.|N	.|0.001192	T|.	0.56187|.	0.1968|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56312|.	-0.8000|.	3|.	.|0.35671	.|T	.|0.21	-8.05|-8.05	14.5602|14.5602	0.68130|0.68130	0.1462:0.8538:0.0:0.0|0.1462:0.8538:0.0:0.0	.|.	.|.	.|.	.|.	L|X	347|649;649;649;649;633;649;648;649	.|.	.|ENSP00000345834:Q649X	P|Q	+|+	2|1	0|0	MLLT4|MLLT4	168054926|168054926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	1.588000|1.588000	0.36633|0.36633	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	CCA|CAG	MLLT4	-	NULL	ENSG00000130396		0.428	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	158	0.00	0	C	NM_005936		168312077	168312077	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	nonsense	250	14.97	44	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16891365	16891365	+	Missense_Mutation	SNP	G	G	A	rs2289552		TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr1:16891365G>A	ENST00000430580.2	-	28	4000	c.3113C>T	c.(3112-3114)aCg>aTg	p.T1038M		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		tcttttcttcgttgatcttct	0.423																																						dbGAP											0													48.0	22.0	34.0					1																	16891365		621	664	1285	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3113C>T	1.37:g.16891365G>A	ENSP00000474456:p.Thr1038Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.423	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	15	0.00	0	G	NM_017940		16891365	16891365	-1	no_errors	ENST00000401007	ensembl	human	known	69_37n	rna	25	21.88	7	SNP	0.001	A
NTSR1	4923	genome.wustl.edu	37	20	61340826	61340826	+	Silent	SNP	G	G	A			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr20:61340826G>A	ENST00000370501.3	+	1	638	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	89					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCACGCTGGCGCGGAAGAAGT	0.657																																					GBM(37;400 780 6403 19663 35669)	dbGAP											0													76.0	58.0	64.0					20																	61340826		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.267G>A	20.37:g.61340826G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4H1|Q9H4T5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_NT1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor	p.A89	ENST00000370501.3	37	c.267	CCDS13502.1	20																																																																																			NTSR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NT1_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000101188		0.657	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	32	0.00	0	G			61340826	61340826	+1	no_errors	ENST00000370501	ensembl	human	known	69_37n	silent	56	29.11	23	SNP	0.987	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	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	91	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	103	31.13	47	SNP	1.000	G
SH2D2A	9047	genome.wustl.edu	37	1	156784870	156784870	+	Silent	SNP	G	G	A			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr1:156784870G>A	ENST00000368199.3	-	3	420	c.267C>T	c.(265-267)caC>caT	p.H89H	NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000368198.3_Silent_p.H71H|SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000392306.2_Silent_p.H89H	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	89					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGCTGCCCCGTGCTGCAGGA	0.647																																						dbGAP											0													34.0	35.0	35.0					1																	156784870		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.267C>T	1.37:g.156784870G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.H89	ENST00000368199.3	37	c.267	CCDS1159.1	1																																																																																			SH2D2A	-	NULL	ENSG00000027869		0.647	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	57	0.00	0	G	NM_003975		156784870	156784870	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	silent	58	22.67	17	SNP	0.417	A
TLR10	81793	genome.wustl.edu	37	4	38777170	38777172	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	AAC	AAC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr4:38777170_38777172delAAC	ENST00000308973.4	-	4	645_647	c.40_42delGTT	c.(40-42)gttdel	p.V14del	TLR10_ENST00000508334.1_In_Frame_Del_p.V14del|TLR10_ENST00000361424.2_In_Frame_Del_p.V14del|TLR10_ENST00000506111.1_In_Frame_Del_p.V14del|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	14					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTGCTGTCATAACAATACTACAA	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.40_42delGTT	4.37:g.38777170_38777172delAAC	ENSP00000308925:p.Val14del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	In_Frame_Del	DEL	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.V14in_frame_del	ENST00000308973.4	37	c.42_40	CCDS3445.1	4																																																																																			TLR10	-	pirsf_Toll-like_receptor	ENSG00000174123		0.409	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	110	0.00	0	AAC			38777170	38777172	-1	no_errors	ENST00000308973	ensembl	human	known	69_37n	in_frame_del	89	18.35	20	DEL	0.000:0.000:0.000	-
USH2A	7399	genome.wustl.edu	37	1	215820992	215820992	+	Missense_Mutation	SNP	G	G	A	rs201726258		TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr1:215820992G>A	ENST00000307340.3	-	67	15049	c.14663C>T	c.(14662-14664)aCg>aTg	p.T4888M	USH2A_ENST00000366943.2_Missense_Mutation_p.T4888M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4888	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCAGCCCCGTGTACTTTGT	0.557										HNSCC(13;0.011)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16709	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	57.0	58.0					1																	215820992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14663C>T	1.37:g.215820992G>A	ENSP00000305941:p.Thr4888Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T4888M	ENST00000307340.3	37	c.14663	CCDS31025.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.938	1.216564	0.22373	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59638	0.25;0.25	5.8	-11.6	0.00059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.979230	0.03642	N	0.239619	T	0.42607	0.1210	L	0.46819	1.47	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.27806	-1.0063	10	0.40728	T	0.16	.	6.4412	0.21851	0.2485:0.408:0.2778:0.0657	.	4888	O75445	USH2A_HUMAN	M	4888	ENSP00000305941:T4888M;ENSP00000355910:T4888M	ENSP00000305941:T4888M	T	-	2	0	USH2A	213887615	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.985000	0.01485	-3.874000	0.00096	-0.961000	0.02630	ACG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.557	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	86	0.00	0	G	NM_007123		215820992	215820992	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	119	22.22	34	SNP	0.000	A
USP9X	8239	genome.wustl.edu	37	X	41025364	41025364	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chrX:41025364G>A	ENST00000324545.8	+	16	2858	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	USP9X_ENST00000378308.2_Missense_Mutation_p.R742Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	742					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTTTTGAGCGATTCTTCAAA	0.368																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													95.0	91.0	93.0					X																	41025364		2193	4297	6490	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2225G>A	X.37:g.41025364G>A	ENSP00000316357:p.Arg742Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.R742Q	ENST00000324545.8	37	c.2225	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012275	0.93346	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.02	5.02	0.67125	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.79410	-0.1815	10	0.25106	T	0.35	.	17.7657	0.88477	0.0:0.0:1.0:0.0	.	742;742	Q93008-1;Q93008	.;USP9X_HUMAN	Q	742	ENSP00000367558:R742Q;ENSP00000316357:R742Q	ENSP00000316357:R742Q	R	+	2	0	USP9X	40910308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.694000	0.98686	2.213000	0.71641	0.600000	0.82982	CGA	USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	187	0.00	0	G	NM_004652		41025364	41025364	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	106	26.71	39	SNP	1.000	A
WFIKKN1	117166	genome.wustl.edu	37	16	683760	683760	+	Silent	SNP	C	C	T			TCGA-B6-A0X7-01A-11D-A10M-09	TCGA-B6-A0X7-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	be5f93af-844a-4adb-ad89-05bfeefa58cd	f50ae895-84cf-4ce7-9663-167b5b951516	g.chr16:683760C>T	ENST00000319070.2	+	2	1672	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	450	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGCCCGAGGCCGCCGGCGGCA	0.697																																						dbGAP											0													21.0	14.0	17.0					16																	683760		2150	4258	6408	-	-	-	SO:0001819	synonymous_variant	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1350C>T	16.37:g.683760C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.A450	ENST00000319070.2	37	c.1350	CCDS10414.1	16																																																																																			WFIKKN1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain	ENSG00000127578		0.697	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	15	0.00	0	C	NM_053284		683760	683760	+1	no_errors	ENST00000319070	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.000	T
