#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AHDC1	27245	genome.wustl.edu	37	1	27875711	27875711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr1:27875711delG	ENST00000247087.5	-	5	3512	c.2916delC	c.(2914-2916)ggcfs	p.G973fs	AHDC1_ENST00000374011.2_Frame_Shift_Del_p.G973fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	973							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCATAGCCGCCGTACTGGG	0.652																																						dbGAP											0													45.0	56.0	52.0					1																	27875711		2199	4295	6494	-	-	-	SO:0001589	frameshift_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2916delC	1.37:g.27875711delG	ENSP00000247087:p.Gly973fs		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Del	DEL	NULL	p.G973fs	ENST00000247087.5	37	c.2916	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	22	0.00	0	G			27875711	27875711	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.041	-
ATP1A4	480	genome.wustl.edu	37	1	160144388	160144388	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr1:160144388C>T	ENST00000368081.4	+	15	2633	c.2162C>T	c.(2161-2163)aCa>aTa	p.T721I	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_5'Flank	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	721					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T721I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCGTGACAGGTGACGGG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											104.0	82.0	89.0					1																	160144388		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2162C>T	1.37:g.160144388C>T	ENSP00000357060:p.Thr721Ile		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.T721I	ENST00000368081.4	37	c.2162	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814167	0.70912	.	.	ENSG00000132681	ENST00000368081	D	0.95622	-3.76	4.2	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	14.4423	0.67325	0.0:1.0:0.0:0.0	.	721	Q13733	AT1A4_HUMAN	I	721	ENSP00000357060:T721I	ENSP00000357060:T721I	T	+	2	0	ATP1A4	158411012	1.000000	0.71417	0.917000	0.36280	0.584000	0.36387	7.623000	0.83113	2.336000	0.79503	0.609000	0.83330	ACA	ATP1A4	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132681		0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	106	0.93	1	C	NM_144699		160144388	160144388	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	31	53.03	35	SNP	0.999	T
CLEC12A	160364	genome.wustl.edu	37	12	10134654	10134654	+	Silent	SNP	T	T	C			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr12:10134654T>C	ENST00000304361.4	+	5	749	c.567T>C	c.(565-567)taT>taC	p.Y189Y	CLEC12A_ENST00000350667.4_Silent_p.Y156Y|CLEC12A_ENST00000434319.2_Silent_p.Y189Y|CLEC12A_ENST00000355690.4_Silent_p.Y199Y	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	189	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Y199Y(1)|p.Y189Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATATGACTATTGGCTGGGAT	0.343																																					Melanoma(197;1487 2125 16611 22221 34855)	dbGAP											2	Substitution - coding silent(2)	breast(2)											61.0	61.0	61.0					12																	10134654		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.567T>C	12.37:g.10134654T>C			B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Y199	ENST00000304361.4	37	c.597	CCDS8608.1	12																																																																																			CLEC12A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172322		0.343	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC12A	HGNC	protein_coding	OTTHUMT00000399545.1	199	0.00	0	T	NM_138337		10134654	10134654	+1	no_errors	ENST00000355690	ensembl	human	known	69_37n	silent	89	20.54	23	SNP	0.826	C
CP	1356	genome.wustl.edu	37	3	148896320	148896320	+	Silent	SNP	A	A	G			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr3:148896320A>G	ENST00000264613.6	-	16	3022	c.2760T>C	c.(2758-2760)ttT>ttC	p.F920F		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	920	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F920F(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CAAAAACTAGAAACAGAAGGG	0.388																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											97.0	89.0	92.0					3																	148896320		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2760T>C	3.37:g.148896320A>G			Q14063|Q2PP18|Q9UKS4	Silent	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.F920	ENST00000264613.6	37	c.2760	CCDS3141.1	3																																																																																			CP	-	superfamily_Cupredoxin	ENSG00000047457		0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	229	0.00	0	A	NM_000096		148896320	148896320	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	silent	190	27.20	71	SNP	0.994	G
CSMD1	64478	genome.wustl.edu	37	8	3076793	3076793	+	Silent	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr8:3076793G>A	ENST00000520002.1	-	30	5214	c.4659C>T	c.(4657-4659)ttC>ttT	p.F1553F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.F1552F|CSMD1_ENST00000602723.1_Silent_p.F1553F|CSMD1_ENST00000400186.3_Silent_p.F1553F|CSMD1_ENST00000602557.1_Silent_p.F1553F|CSMD1_ENST00000542608.1_Silent_p.F1552F|CSMD1_ENST00000539096.1_Silent_p.F1552F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1553	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.F1281F(1)|p.F1552F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCAATGGCGAACCCTGAAA	0.453																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											39.0	43.0	42.0					8																	3076793		1852	4104	5956	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4659C>T	8.37:g.3076793G>A			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1033C	ENST00000520002.1	37	c.3097		8	.	.	.	.	.	.	.	.	.	.	G	2.642	-0.283869	0.05642	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.48	-4.68	0.03309	.	.	.	.	.	T	0.65291	0.2677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65537	-0.6144	4	.	.	.	.	15.9497	0.79823	0.7357:0.0:0.2643:0.0	.	.	.	.	C	1033	.	.	R	-	1	0	CSMD1	3064200	0.979000	0.34478	0.244000	0.24202	0.317000	0.28152	0.297000	0.19101	-1.005000	0.03417	0.555000	0.69702	CGC	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	110	0.00	0	G	NM_033225		3076793	3076793	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	38	28.30	15	SNP	0.975	A
DCST1	149095	genome.wustl.edu	37	1	155020578	155020578	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr1:155020578A>T	ENST00000295542.1	+	16	1897	c.1801A>T	c.(1801-1803)Aaa>Taa	p.K601*	DCST1_ENST00000423025.2_Nonsense_Mutation_p.K576*|DCST1_ENST00000392480.1_Nonsense_Mutation_p.K601*|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Nonsense_Mutation_p.K601*	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	601						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K601*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTATTGAAGAAAAGAGCAGC	0.552																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											73.0	73.0	73.0					1																	155020578		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1801A>T	1.37:g.155020578A>T	ENSP00000295542:p.Lys601*		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Nonsense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.K601*	ENST00000295542.1	37	c.1801	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309400	0.81247	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	.	.	.	4.8	4.8	0.61643	.	0.273464	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8197	12.3276	0.55020	1.0:0.0:0.0:0.0	.	.	.	.	X	601;601;576;601	.	ENSP00000295542:K601X	K	+	1	0	DCST1	153287202	1.000000	0.71417	0.999000	0.59377	0.413000	0.31143	3.607000	0.54102	2.009000	0.58944	0.482000	0.46254	AAA	DCST1	-	NULL	ENSG00000163357		0.552	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	108	0.00	0	A	NM_152494		155020578	155020578	+1	no_errors	ENST00000295542	ensembl	human	known	69_37n	nonsense	157	11.24	20	SNP	1.000	T
EGR3	1960	genome.wustl.edu	37	8	22548460	22548460	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr8:22548460delG	ENST00000317216.2	-	2	1047	c.690delC	c.(688-690)accfs	p.T230fs	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Frame_Shift_Del_p.T192fs|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	230					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		ATGCCTTGATGGTCTCCAGAG	0.642																																						dbGAP											0													49.0	57.0	54.0					8																	22548460		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.690delC	8.37:g.22548460delG	ENSP00000318057:p.Thr230fs		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Frame_Shift_Del	DEL	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I231fs	ENST00000317216.2	37	c.690	CCDS6033.1	8																																																																																			EGR3	-	NULL	ENSG00000179388		0.642	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	77	0.00	0	G	NM_004430		22548460	22548460	-1	no_errors	ENST00000317216	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
ESYT1	23344	genome.wustl.edu	37	12	56532266	56532266	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr12:56532266C>T	ENST00000394048.5	+	22	2680	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R816W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816W|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R806W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTATATGGAGCGGGCAGAGGA	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	31.0	30.0					12																	56532266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2416C>T	12.37:g.56532266C>T	ENSP00000377612:p.Arg806Trp		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.R816W	ENST00000394048.5	37	c.2446	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709514	0.68730	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.71103	-0.54;-0.54;-0.54	5.38	4.46	0.54185	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.72894	2.215	0.49915	D	0.999834	D;D	0.89917	0.996;1.0	P;D	0.76071	0.702;0.987	T	0.83142	-0.0108	10	0.87932	D	0	-22.377	11.3128	0.49375	0.3301:0.6699:0.0:0.0	.	816;806	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	806;760;816;816	ENSP00000377612:R806W;ENSP00000267113:R816W;ENSP00000445952:R816W	ENSP00000267113:R816W	R	+	1	2	ESYT1	54818533	0.999000	0.42202	1.000000	0.80357	0.725000	0.41563	1.053000	0.30442	1.353000	0.45828	0.561000	0.74099	CGG	ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139641		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	62	0.00	0	C	NM_015292		56532266	56532266	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133393258	133393258	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr12:133393258C>A	ENST00000450791.2	-	2	457	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	GOLGA3_ENST00000545875.1_Missense_Mutation_p.D92Y|GOLGA3_ENST00000204726.3_Missense_Mutation_p.D92Y|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D92Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D92Y			Q08378	GOGA3_HUMAN	golgin A3	92	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.D92Y(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGAGAGGCATCAGGGCCCACT	0.587																																						dbGAP											2	Substitution - Missense(2)	breast(2)											104.0	103.0	103.0					12																	133393258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.274G>T	12.37:g.133393258C>A	ENSP00000410378:p.Asp92Tyr		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.D92Y	ENST00000450791.2	37	c.274	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929381	0.73327	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.37915	1.61;1.61;1.61;1.17;1.17	5.91	5.02	0.67125	.	0.322393	0.36628	N	0.002493	T	0.55721	0.1938	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68943	0.961;0.961;0.939	T	0.59762	-0.7393	10	0.87932	D	0	.	13.5881	0.61944	0.0:0.9282:0.0:0.0718	.	92;92;92	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Y	92	ENSP00000204726:D92Y;ENSP00000410378:D92Y;ENSP00000409303:D92Y;ENSP00000442143:D92Y;ENSP00000442603:D92Y	ENSP00000204726:D92Y	D	-	1	0	GOLGA3	131903331	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.247000	0.51422	1.509000	0.48786	0.462000	0.41574	GAT	GOLGA3	-	NULL	ENSG00000090615		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	101	0.00	0	C	NM_005895		133393258	133393258	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	A
HEATR4	399671	genome.wustl.edu	37	14	73989691	73989691	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr14:73989691G>A	ENST00000553558.1	-	3	487	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	HEATR4_ENST00000334988.2_Missense_Mutation_p.R56C|HEATR4_ENST00000560393.1_Missense_Mutation_p.R9C|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	56								p.R9C(1)|p.R56C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CGGTGTAGACGGTACTGTGAG	0.498																																						dbGAP											2	Substitution - Missense(2)	breast(2)											86.0	90.0	89.0					14																	73989691		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.166C>T	14.37:g.73989691G>A	ENSP00000450444:p.Arg56Cys		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R56C	ENST00000553558.1	37	c.166	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188187	0.21954	.	.	ENSG00000187105	ENST00000553558;ENST00000334988;ENST00000556455	T;T	0.16743	2.32;2.32	5.6	0.61	0.17580	.	0.733633	0.12739	N	0.443186	T	0.04998	0.0134	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39440	-0.9614	10	0.24483	T	0.36	0.3377	3.5542	0.07858	0.5977:0.0:0.2414:0.1609	.	56	Q86WZ0	HEAT4_HUMAN	C	56;9;56	ENSP00000450444:R56C;ENSP00000452407:R56C	ENSP00000335447:R9C	R	-	1	0	HEATR4	73059444	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.756000	0.26419	0.360000	0.24265	-0.414000	0.06135	CGT	HEATR4	-	NULL	ENSG00000187105		0.498	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	51	0.00	0	G	NM_203309		73989691	73989691	-1	no_errors	ENST00000334988	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.000	A
HLA-DRB1	3123	genome.wustl.edu	37	6	32552060	32552061	+	Frame_Shift_Ins	INS	-	-	G	rs16822820|rs17882641	byFrequency	TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr6:32552060_32552061insG	ENST00000360004.5	-	2	300_301	c.195_196insC	c.(193-198)gagtccfs	p.S66fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	66	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AAGCGCACGGACTCCTCCTGGT	0.604										Multiple Myeloma(14;0.17)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.195_196insC	6.37:g.32552060_32552061insG	ENSP00000353099:p.Ser66fs		P01914|Q9MYF5	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.S65fs	ENST00000360004.5	37	c.196_195	CCDS47409.1	6																																																																																			HLA-DRB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000196126		0.604	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	53	0.00	0	-	NM_002124		32552060	32552061	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.000:0.881	G
ID2	3398	genome.wustl.edu	37	2	8822549	8822549	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr2:8822549T>C	ENST00000234091.4	+	3	1114	c.254T>C	c.(253-255)aTt>aCt	p.I85T	ID2_ENST00000396290.1_Missense_Mutation_p.I85T|ID2_ENST00000331129.3_Missense_Mutation_p.I85T|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	85					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)	p.I85T(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCCCACTATTGTCAGCCTG	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	68.0	67.0					2																	8822549		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.254T>C	2.37:g.8822549T>C	ENSP00000234091:p.Ile85Thr			Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.I85T	ENST00000234091.4	37	c.254	CCDS1659.1	2	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968667	0.53614	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	D;D;D	0.98362	-4.89;-4.89;-4.89	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (1);	0.047692	0.85682	D	0.000000	D	0.95950	0.8681	L	0.43152	1.355	0.54753	D	0.999985	B	0.26672	0.156	B	0.21917	0.037	D	0.94876	0.8034	10	0.21540	T	0.41	-12.2453	15.7015	0.77544	0.0:0.0:0.0:1.0	.	85	Q02363	ID2_HUMAN	T	85	ENSP00000234091:I85T;ENSP00000379585:I85T;ENSP00000385465:I85T	ENSP00000234091:I85T	I	+	2	0	ID2	8740000	1.000000	0.71417	0.123000	0.21794	0.984000	0.73092	7.481000	0.81124	2.109000	0.64355	0.454000	0.30748	ATT	ID2	-	superfamily_HLH_DNA-bd	ENSG00000115738		0.567	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID2	HGNC	protein_coding	OTTHUMT00000231925.2	36	0.00	0	T	NM_002166		8822549	8822549	+1	no_errors	ENST00000234091	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.814	C
IKBKB	3551	genome.wustl.edu	37	8	42151033	42151033	+	Intron	DEL	A	A	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr8:42151033delA	ENST00000520810.1	+	5	574				IKBKB_ENST00000416505.2_Intron|IKBKB_ENST00000519735.1_Intron|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGACATTGGTAAATCCCAGTC	0.547																																						dbGAP											0													139.0	117.0	125.0					8																	42151033		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.388+3A>-	8.37:g.42151033delA			B4DZ30|B4E0U4|O75327	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.K131fs	ENST00000520810.1	37	c.391	CCDS6128.1	8																																																																																			IKBKB	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000104365		0.547	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	141	0.00	0	A			42151033	42151033	+1	no_errors	ENST00000342222	ensembl	human	known	69_37n	frame_shift_del	45	28.12	18	DEL	1.000	-
IKBKB	3551	genome.wustl.edu	37	8	42179428	42179428	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr8:42179428G>T	ENST00000520810.1	+	17	1889	c.1703G>T	c.(1702-1704)aGg>aTg	p.R568M	IKBKB_ENST00000416505.2_Missense_Mutation_p.R509M|IKBKB_ENST00000520835.1_Missense_Mutation_p.R566M|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.R345M	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	568					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.R568M(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAGCAAGCAAGGGAGCTGTAC	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	106.0	103.0					8																	42179428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1703G>T	8.37:g.42179428G>T	ENSP00000430684:p.Arg568Met		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R568M	ENST00000520810.1	37	c.1703	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168535	0.57584	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.75	5.75	0.90469	.	0.090240	0.85682	D	0.000000	T	0.29389	0.0732	N	0.24115	0.695	0.40619	D	0.981742	B;B;D;B	0.76494	0.068;0.036;0.999;0.021	B;B;D;B	0.64042	0.009;0.036;0.921;0.016	T	0.02533	-1.1145	10	0.52906	T	0.07	.	12.8445	0.57821	0.0752:0.0:0.9248:0.0	.	509;566;345;568	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	M	568;509;566;345	ENSP00000430684:R568M;ENSP00000404920:R509M;ENSP00000430868:R566M;ENSP00000369030:R345M	ENSP00000369030:R345M	R	+	2	0	IKBKB	42298585	1.000000	0.71417	0.993000	0.49108	0.350000	0.29205	4.519000	0.60517	2.720000	0.93068	0.655000	0.94253	AGG	IKBKB	-	NULL	ENSG00000104365		0.423	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	258	0.00	0	G			42179428	42179428	+1	no_errors	ENST00000520810	ensembl	human	known	69_37n	missense	178	29.08	73	SNP	1.000	T
KCNH7	90134	genome.wustl.edu	37	2	163256927	163256928	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr2:163256927_163256928insT	ENST00000332142.5	-	10	2277_2278	c.2178_2179insA	c.(2176-2181)tgcttafs	p.L727fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	727					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTGCTTGTAAGCATTCTGGGA	0.431																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2178_2179insA	2.37:g.163256927_163256928insT	ENSP00000331727:p.Leu727fs		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.L726fs	ENST00000332142.5	37	c.2179_2178	CCDS2219.1	2																																																																																			KCNH7	-	superfamily_cNMP-bd-like	ENSG00000184611		0.431	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	135	0.00	0	-	NM_033272		163256927	163256928	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:0.978	T
KIR3DL1	3811	genome.wustl.edu	37	19	55325455	55325455	+	Intron	SNP	G	G	A	rs1051457	byFrequency	TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr19:55325455G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Silent_p.L361L|KIR2DL4_ENST00000357494.4_Silent_p.L289L|KIR2DL4_ENST00000346587.4_Silent_p.L211L|KIR3DL1_ENST00000391728.4_5'Flank|KIR2DL4_ENST00000396293.1_Silent_p.L194L|KIR3DL1_ENST00000358178.4_5'Flank|KIR2DL4_ENST00000345540.5_Silent_p.L306L|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000326542.7_5'Flank			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGAGCGTTGTCTCCTGCCC	0.522													g|||	1141	0.227835	0.0197	0.3199	5008	,	,		10104	0.4712		0.1839	False		,,,				2504	0.2382					dbGAP											0													5.0	6.0	6.0					19																	55325455		1012	3024	4036	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-3534G>A	19.37:g.55325455G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L361	ENST00000538269.1	37	c.1083		19																																																																																			KIR2DL4	-	NULL	ENSG00000189013		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	HGNC	protein_coding		24	0.00	0	G	NM_013289		55325455	55325455	+1	no_errors	ENST00000396284	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.001	A
LPP	4026	genome.wustl.edu	37	3	188584034	188584034	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr3:188584034G>A	ENST00000312675.4	+	9	1703	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	LPP_ENST00000543006.1_Missense_Mutation_p.R486Q	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	486	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R486Q(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ATCATGGAGCGGATTCTCCGA	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	dbGAP		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	1	Substitution - Missense(1)	breast(1)											172.0	147.0	156.0					3																	188584034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1457G>A	3.37:g.188584034G>A	ENSP00000318089:p.Arg486Gln		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R486Q	ENST00000312675.4	37	c.1457	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.373300	0.95923	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.87571	-2.27;-2.27	5.86	5.86	0.93980	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	L	0.45285	1.41	0.80722	D	1	P;D	0.54207	0.95;0.965	B;P	0.54026	0.434;0.74	D	0.88282	0.2937	10	0.56958	D	0.05	.	14.3587	0.66754	0.0727:0.0:0.9273:0.0	.	339;486	B7Z8W0;Q93052	.;LPP_HUMAN	Q	486	ENSP00000318089:R486Q;ENSP00000438891:R486Q	ENSP00000318089:R486Q	R	+	2	0	LPP	190066728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.659000	0.83766	2.768000	0.95171	0.655000	0.94253	CGG	LPP	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000145012		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	156	0.00	0	G	NM_005578		188584034	188584034	+1	no_errors	ENST00000312675	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	A
MUC20	200958	genome.wustl.edu	37	3	195452668	195452668	+	Silent	SNP	C	C	G	rs201581458	byFrequency	TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr3:195452668C>G	ENST00000447234.2	+	2	1320	c.1194C>G	c.(1192-1194)ccC>ccG	p.P398P	MUC20_ENST00000320736.6_Silent_p.P227P|MUC20_ENST00000445522.2_Silent_p.P363P|MUC20_ENST00000436408.1_Silent_p.P398P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	398	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATCACCCCCTCATGGTCCC	0.582													a|||	1176	0.234824	0.2731	0.2233	5008	,	,		23539	0.3294		0.1988	False		,,,				2504	0.1309					dbGAP											0													4.0	3.0	3.0					3																	195452668		1613	3526	5139	-	-	-	SO:0001819	synonymous_variant	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1194C>G	3.37:g.195452668C>G			Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	NULL	p.P398	ENST00000447234.2	37	c.1194		3																																																																																			MUC20	-	NULL	ENSG00000176945		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	50	0.00	0	C	NM_152673		195452668	195452668	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.004	G
TENM4	26011	genome.wustl.edu	37	11	78780799	78780799	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr11:78780799A>T	ENST00000278550.7	-	5	653	c.191T>A	c.(190-192)gTg>gAg	p.V64E	TENM4_ENST00000533038.1_5'UTR	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	64	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V64E(2)									CTCCTGCGGCACAATGTCCTT	0.657																																						dbGAP											2	Substitution - Missense(2)	breast(2)											41.0	48.0	46.0					11																	78780799		692	1591	2283	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.191T>A	11.37:g.78780799A>T	ENSP00000278550:p.Val64Glu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V64E	ENST00000278550.7	37	c.191	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992499	0.54041	.	.	ENSG00000149256	ENST00000278550	T	0.43688	0.94	4.54	4.54	0.55810	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.62514	0.2434	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;D	0.83275	0.996;0.988	T	0.64462	-0.6402	9	.	.	.	.	14.3517	0.66708	1.0:0.0:0.0:0.0	.	64;64	G3CAT1;Q6N022	.;TEN4_HUMAN	E	64	ENSP00000278550:V64E	.	V	-	2	0	ODZ4	78458447	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.723000	0.91458	2.043000	0.60533	0.533000	0.62120	GTG	ODZ4	-	pfam_Ten_N	ENSG00000149256		0.657	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	55	0.00	0	A			78780799	78780799	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	1.000	T
NTN4	59277	genome.wustl.edu	37	12	96066487	96066487	+	Intron	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr12:96066487C>T	ENST00000343702.4	-	8	1959				NTN4_ENST00000538383.1_Intron|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000553059.1_Intron|NTN4_ENST00000344911.4_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACAGCAACATCAGTAAGGATC	0.517																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1511-2565G>A	12.37:g.96066487C>T			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	RNA	SNP	-	NULL	ENST00000343702.4	37	NULL	CCDS9054.1	12																																																																																			PGAM1P5	-	-	ENSG00000257150		0.517	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1P5	HGNC	protein_coding	OTTHUMT00000408372.1	37	0.00	0	C	NM_021229		96066487	96066487	+1	no_errors	ENST00000552554	ensembl	human	known	69_37n	rna	21	34.38	11	SNP	1.000	T
PIPSL	266971	genome.wustl.edu	37	10	95720549	95720549	+	RNA	SNP	T	T	C			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr10:95720549T>C	ENST00000480546.1	-	0	748					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ATATTTGATATGCATTTTTAC	0.443																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720549T>C			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.443	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	89	0.00	0	T	NR_002319		95720549	95720549	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	46	29.23	19	SNP	1.000	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037868	10037868	+	RNA	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chrY:10037868G>A	ENST00000515896.1	+	0	105									RNA, 5.8S ribosomal pseudogene 6																		CACTTCGAACGCACTTGCGGC	0.562																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037868G>A				RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.562	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		45	0.00	0	G			10037868	10037868	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	21	18.52	5	SNP	1.000	A
RRP12	23223	genome.wustl.edu	37	10	99130258	99130258	+	Silent	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr10:99130258G>A	ENST00000370992.4	-	23	2754	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	RRP12_ENST00000536831.1_Silent_p.L599L|RRP12_ENST00000414986.1_Silent_p.L820L|RRP12_ENST00000315563.6_Silent_p.L781L|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	881						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.L881L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCATCTCCACGAGCAGTGCAA	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											126.0	97.0	107.0					10																	99130258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2643C>T	10.37:g.99130258G>A			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.L881	ENST00000370992.4	37	c.2643	CCDS7457.1	10																																																																																			RRP12	-	superfamily_ARM-type_fold	ENSG00000052749		0.602	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	65	0.00	0	G	NM_015179		99130258	99130258	-1	no_errors	ENST00000370992	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	1.000	A
SEZ6L2	26470	genome.wustl.edu	37	16	29888138	29888138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr16:29888138delG	ENST00000308713.5	-	12	2570	c.2043delC	c.(2041-2043)tccfs	p.S681fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Del_p.S637fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Del_p.S567fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Del_p.S611fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	681	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGAATGTCGGAGCCTAGCA	0.706																																						dbGAP											0													21.0	21.0	21.0					16																	29888138		2195	4299	6494	-	-	-	SO:0001589	frameshift_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2043delC	16.37:g.29888138delG	ENSP00000312550:p.Ser681fs		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D682fs	ENST00000308713.5	37	c.2043	CCDS10659.1	16																																																																																			SEZ6L2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174938		0.706	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	20	0.00	0	G	NM_012410		29888138	29888138	-1	no_errors	ENST00000308713	ensembl	human	known	69_37n	frame_shift_del	1	66.67	2	DEL	0.610	-
SMARCA1	6594	genome.wustl.edu	37	X	128614761	128614761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chrX:128614761delG	ENST00000371122.4	-	19	2488	c.2359delC	c.(2359-2361)cagfs	p.Q787fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.Q775fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.Q775fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	787					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q787fs*25(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAAAATCCTGAACATTTGGC	0.343																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											62.0	63.0	63.0					X																	128614761		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2359delC	X.37:g.128614761delG	ENSP00000360163:p.Gln787fs		Q5JV41|Q5JV42	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q787fs	ENST00000371122.4	37	c.2359	CCDS14612.1	X																																																																																			SMARCA1	-	pfam_ATPase_nucl-remodel_HAND-dom,superfamily_ATPase_nucl-remodel_HAND-dom	ENSG00000102038		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	106	0.00	0	G	NM_003069		128614761	128614761	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	frame_shift_del	60	55.63	79	DEL	1.000	-
STEAP2	261729	genome.wustl.edu	37	7	89854877	89854879	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr7:89854877_89854879delGCC	ENST00000287908.3	+	2	874_876	c.481_483delGCC	c.(481-483)gccdel	p.A161del	STEAP2_ENST00000394632.1_In_Frame_Del_p.A161del|STEAP2_ENST00000394626.1_In_Frame_Del_p.A161del|STEAP2_ENST00000394622.2_In_Frame_Del_p.A161del|STEAP2_ENST00000394629.2_In_Frame_Del_p.A161del|STEAP2_ENST00000394621.2_In_Frame_Del_p.A161del|STEAP2_ENST00000402625.2_In_Frame_Del_p.A161del	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	161					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ACCTAAGGATGCCAGCCGGCAGG	0.345																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.481_483delGCC	7.37:g.89854877_89854879delGCC	ENSP00000287908:p.Ala161del		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	In_Frame_Del	DEL	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.A161in_frame_del	ENST00000287908.3	37	c.481_483	CCDS5615.1	7																																																																																			STEAP2	-	NULL	ENSG00000157214		0.345	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	HGNC	protein_coding	OTTHUMT00000059662.4	39	0.00	0	GCC	NM_152999		89854877	89854879	+1	no_errors	ENST00000287908	ensembl	human	known	69_37n	in_frame_del	13	17.65	3	DEL	1.000:1.000:1.000	-
TBC1D8	11138	genome.wustl.edu	37	2	101648789	101648789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr2:101648789C>T	ENST00000376840.4	-	11	1831	c.1832G>A	c.(1831-1833)tGg>tAg	p.W611*	TBC1D8_ENST00000409318.1_Nonsense_Mutation_p.W626*			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	611	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.W611*(1)|p.W626*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AACCAACAGCCAGAAGGCTTC	0.567																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											81.0	89.0	86.0					2																	101648789		2173	4270	6443	-	-	-	SO:0001587	stop_gained	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1832G>A	2.37:g.101648789C>T	ENSP00000366036:p.Trp611*		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.W626*	ENST00000376840.4	37	c.1877	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.129532	0.98667	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	.	.	.	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6908	18.3582	0.90365	0.0:1.0:0.0:0.0	.	.	.	.	X	611;626	.	ENSP00000366036:W611X	W	-	2	0	TBC1D8	101015221	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.636000	0.83301	2.320000	0.78422	0.655000	0.94253	TGG	TBC1D8	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000204634		0.567	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	100	0.00	0	C	NM_007063		101648789	101648789	-1	no_errors	ENST00000409318	ensembl	human	known	69_37n	nonsense	23	14.81	4	SNP	1.000	T
TCTE1	202500	genome.wustl.edu	37	6	44250253	44250253	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr6:44250253C>T	ENST00000371505.4	-	4	1012	c.890G>A	c.(889-891)cGc>cAc	p.R297H	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	297										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATTATGATGCGTGCCTTGTC	0.562																																						dbGAP											0													114.0	101.0	105.0					6																	44250253		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.890G>A	6.37:g.44250253C>T	ENSP00000360560:p.Arg297His		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R297H	ENST00000371505.4	37	c.890	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085635	0.55861	.	.	ENSG00000146221	ENST00000371505	T	0.53423	0.62	5.37	5.37	0.77165	.	0.169046	0.51477	D	0.000093	T	0.62527	0.2435	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.66316	-0.5954	10	0.62326	D	0.03	-53.6838	14.7013	0.69157	0.0:0.928:0.0:0.072	.	297	Q5JU00	TCTE1_HUMAN	H	297	ENSP00000360560:R297H	ENSP00000360560:R297H	R	-	2	0	TCTE1	44358231	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	3.780000	0.55386	2.695000	0.91970	0.455000	0.32223	CGC	TCTE1	-	NULL	ENSG00000146221		0.562	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	111	0.00	0	C	NM_182539		44250253	44250253	-1	no_errors	ENST00000371505	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.997	T
TSNARE1	203062	genome.wustl.edu	37	8	143436021	143436021	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr8:143436021G>A	ENST00000307180.3	-	2	182	c.65C>T	c.(64-66)tCg>tTg	p.S22L	TSNARE1_ENST00000524325.1_Missense_Mutation_p.S22L|TSNARE1_ENST00000519651.1_Missense_Mutation_p.S22L|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S22L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	22					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.S22L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCTTGTCTCGAAGGTCCCCC	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	44.0	46.0					8																	143436021		2203	4300	6503	-	-	-	SO:0001583	missense	0					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.65C>T	8.37:g.143436021G>A	ENSP00000303437:p.Ser22Leu		B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S22L	ENST00000307180.3	37	c.65	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598080	0.28445	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	T;T;T;T;T;T	0.34859	2.4;2.4;2.4;1.34;1.46;1.41	3.47	2.58	0.30949	.	0.298089	0.17952	U	0.156472	T	0.18467	0.0443	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.46912	0.886;0.807;0.886;0.886	B;B;B;B	0.32533	0.147;0.065;0.147;0.147	T	0.09840	-1.0656	10	0.28530	T	0.3	-0.0922	7.3783	0.26841	0.1323:0.0:0.8677:0.0	.	22;22;22;22	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	L	22;22;22;22;22;38	ENSP00000428763:S22L;ENSP00000303437:S22L;ENSP00000427770:S22L;ENSP00000429679:S22L;ENSP00000429626:S22L;ENSP00000430789:S38L	ENSP00000303437:S22L	S	-	2	0	TSNARE1	143433928	0.019000	0.18553	0.010000	0.14722	0.563000	0.35712	0.896000	0.28377	0.733000	0.32492	0.563000	0.77884	TCG	TSNARE1	-	NULL	ENSG00000171045		0.607	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	HGNC	protein_coding		36	0.00	0	G	NM_145003		143436021	143436021	-1	no_errors	ENST00000307180	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.030	A
ZAN	7455	genome.wustl.edu	37	7	100349612	100349612	+	RNA	SNP	C	C	T			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr7:100349612C>T	ENST00000348028.3	+	0	2049				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I628I(4)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCTCACAGAAA	0.483																																						dbGAP											4	Substitution - coding silent(4)	lung(2)|breast(2)											251.0	279.0	270.0					7																	100349612		1862	4099	5961	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349612C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.I628	ENST00000348028.3	37	c.1884		7																																																																																			ZAN	-	NULL	ENSG00000146839		0.483	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	887	0.00	0	C	NM_003386		100349612	100349612	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	silent	540	32.42	259	SNP	0.000	T
ZNF229	7772	genome.wustl.edu	37	19	44936532	44936532	+	Missense_Mutation	SNP	T	T	G			TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr19:44936532T>G	ENST00000588931.1	-	5	536	c.103A>C	c.(103-105)Agc>Cgc	p.S35R	ZNF229_ENST00000291187.4_Missense_Mutation_p.S35R|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S35R(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCCTTGAAGCTCAATGGCTCC	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	90.0	88.0					19																	44936532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.103A>C	19.37:g.44936532T>G	ENSP00000466519:p.Ser35Arg		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S35R	ENST00000588931.1	37	c.103	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348048	0.24426	.	.	ENSG00000167383	ENST00000291187	T	0.01947	4.54	3.61	1.28	0.21552	Krueppel-associated box (4);	.	.	.	.	T	0.02848	0.0085	L	0.46670	1.46	0.18873	N	0.999986	B	0.30211	0.273	B	0.33454	0.164	T	0.40270	-0.9572	9	0.87932	D	0	.	5.898	0.18949	0.158:0.0:0.1611:0.6808	.	35	Q9UJW7	ZN229_HUMAN	R	35	ENSP00000291187:S35R	ENSP00000291187:S35R	S	-	1	0	ZNF229	49628372	0.002000	0.14202	0.848000	0.33437	0.504000	0.33889	0.160000	0.16462	1.393000	0.46605	0.421000	0.28195	AGC	ZNF229	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167383		0.423	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	161	0.00	0	T	NM_014518		44936532	44936532	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	missense	54	30.77	24	SNP	0.640	G
ZNF804B	219578	genome.wustl.edu	37	7	88963520	88963521	+	Frame_Shift_Ins	INS	-	-	A	rs116778830	byFrequency	TCGA-A1-A0SM-01A-11D-A099-09	TCGA-A1-A0SM-10A-02D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2057b341-ff5c-45ef-83bb-005e29b2e740	e9a6364d-c86f-4656-9089-d0a59a87bd73	g.chr7:88963520_88963521insA	ENST00000333190.4	+	4	1833_1834	c.1224_1225insA	c.(1225-1227)aacfs	p.N409fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	409							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAGAATAGAGAACAGAGAAAA	0.371										HNSCC(36;0.09)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1226dupA	7.37:g.88963522_88963522dupA	ENSP00000329638:p.Asn409fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	pfam_Znf_C2H2_jaz	p.N408fs	ENST00000333190.4	37	c.1224_1225	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.371	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	65	0.00	0	-	NM_181646		88963520	88963521	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.001:0.001	A
