#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
EXOSC7	23016	genome.wustl.edu	37	3	45048925	45048925	+	Missense_Mutation	SNP	A	A	T	rs141843360		TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr3:45048925A>T	ENST00000265564.7	+	7	677	c.629A>T	c.(628-630)cAt>cTt	p.H210L	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	210					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GGCTATCGGCATGTGGTGGAT	0.617													ENSG00000075914																																					0													65.0	55.0	59.0					3																	45048925		2203	4300	6503	SO:0001583	missense	0			-	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.629A>T	3.37:g.45048925A>T	ENSP00000265564:p.His210Leu		Q96E72	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.H210L	ENST00000265564.7	37	c.629	CCDS2725.1	3	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287013	0.40494	.	.	ENSG00000075914	ENST00000265564	T	0.37058	1.22	5.77	5.77	0.91146	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42529	1.33	0.80722	D	1	B;B	0.33528	0.23;0.416	B;B	0.30316	0.054;0.114	T	0.09250	-1.0683	10	0.02654	T	1	-16.023	16.0957	0.81123	1.0:0.0:0.0:0.0	.	210;210	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	210	ENSP00000265564:H210L	ENSP00000265564:H210L	H	+	2	0	EXOSC7	45023929	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.339000	0.96797	2.199000	0.70637	0.533000	0.62120	CAT	-	EXOSC7	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2		0.617	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC7	HGNC	protein_coding	OTTHUMT00000256754.2	0	0	1	53	53	57	0.00	1.72	A	NM_015004		45048925	+1	7	5	62	29	tier1	no_errors	ENST00000265564	ensembl	human	known	74_37	missense	10.14	14.71	SNP	1.000	T	7	62
IL1RAPL1	11141	genome.wustl.edu	37	X	29301312	29301312	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chrX:29301312G>A	ENST00000378993.1	+	3	1013	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G114S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	114	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACAGGACAGTGGTCTCTACGC	0.448													ENSG00000169306																																					0													95.0	82.0	86.0					X																	29301312		2202	4300	6502	SO:0001583	missense	0			-	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.340G>A	X.37:g.29301312G>A	ENSP00000368278:p.Gly114Ser		A0AVG4|Q9UJ53	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.G114S	ENST00000378993.1	37	c.340	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798724	0.90538	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	D;D	0.87103	-2.21;-2.21	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94689	0.8287	M	0.88704	2.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95357	0.8452	10	0.87932	D	0	.	17.9294	0.88992	0.0:0.0:1.0:0.0	.	114	Q9NZN1	IRPL1_HUMAN	S	114	ENSP00000368278:G114S;ENSP00000305200:G114S	ENSP00000305200:G114S	G	+	1	0	IL1RAPL1	29211233	1.000000	0.71417	0.985000	0.45067	0.823000	0.46562	9.476000	0.97823	2.454000	0.82982	0.600000	0.82982	GGT	-	IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like_dom		0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	0	0	0	52	52	40	0.00	0.00	G	NM_014271		29301312	+1	4	6	46	46	tier1	no_errors	ENST00000302196	ensembl	human	known	74_37	missense	8.00	11.54	SNP	1.000	A	4	46
FREM2	341640	genome.wustl.edu	37	13	39265060	39265060	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr13:39265060G>A	ENST00000280481.7	+	1	3795	c.3579G>A	c.(3577-3579)atG>atA	p.M1193I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1193					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCCAGAGATGTTTATGAGAG	0.408													ENSG00000150893																																					0													236.0	225.0	229.0					13																	39265060		2203	4300	6503	SO:0001583	missense	0			-	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3579G>A	13.37:g.39265060G>A	ENSP00000280481:p.Met1193Ile		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.M1193I	ENST00000280481.7	37	c.3579	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520046	0.00967	.	.	ENSG00000150893	ENST00000280481	T	0.42900	0.96	6.07	-0.644	0.11479	.	0.235838	0.49305	N	0.000149	T	0.12050	0.0293	N	0.02357	-0.585	0.31271	N	0.691794	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	10	0.02654	T	1	.	6.7678	0.23576	0.41:0.3003:0.2897:0.0	.	1193	Q5SZK8	FREM2_HUMAN	I	1193	ENSP00000280481:M1193I	ENSP00000280481:M1193I	M	+	3	0	FREM2	38163060	0.021000	0.18746	0.873000	0.34254	0.855000	0.48748	-0.733000	0.04898	-0.137000	0.11455	-0.133000	0.14855	ATG	-	FREM2	-	superfamily_Cadherin-like		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	0	0	0	75	75	101	0.00	0.00	G	NM_207361		39265060	+1	13	13	60	70	tier1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	17.81	15.66	SNP	0.970	A	13	60
PROZ	8858	genome.wustl.edu	37	13	113826312	113826312	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr13:113826312T>C	ENST00000375547.2	+	8	1103	c.1096T>C	c.(1096-1098)Ttt>Ctt	p.F366L	PROZ_ENST00000342783.4_Missense_Mutation_p.F388L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	366	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGGCTCCTGGTTTCTCACGGG	0.567													ENSG00000126231																																					0													38.0	36.0	36.0					13																	113826312		2203	4298	6501	SO:0001583	missense	0			-	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1096T>C	13.37:g.113826312T>C	ENSP00000364697:p.Phe366Leu		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.F366L	ENST00000375547.2	37	c.1096	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136400	0.56936	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92858	-3.12;-3.12	3.96	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.95647	0.8703	10	0.87932	D	0	.	13.1102	0.59268	0.0:0.0:0.0:1.0	.	388;366	P22891-2;P22891	.;PROZ_HUMAN	L	366;388	ENSP00000364697:F366L;ENSP00000344458:F388L	ENSP00000344458:F388L	F	+	1	0	PROZ	112874313	1.000000	0.71417	0.995000	0.50966	0.083000	0.17756	3.541000	0.53618	1.540000	0.49301	0.260000	0.18958	TTT	-	PROZ	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.567	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	HGNC	protein_coding	OTTHUMT00000045845.1	0	0	0	95	95	82	0.00	0.00	T	NM_003891		113826312	+1	22	11	100	68	tier1	no_errors	ENST00000375547	ensembl	human	known	74_37	missense	17.74	13.92	SNP	1.000	C	22	100
GNB2L1	10399	genome.wustl.edu	37	5	180670201	180670201	+	Intron	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr5:180670201G>A	ENST00000512805.1	-	1	518				GNB2L1_ENST00000376817.4_Intron|SNORD95_ENST00000579879.1_RNA|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000456394.2_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000505461.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		ACGCAGTCAGGAACACAGGGA	0.512													ENSG00000204628																																					0																																										SO:0001627	intron_variant	0			-	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.109+490C>T	5.37:g.180670201G>A			B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	R	SNP	-	NULL	ENST00000512805.1	37	NULL	CCDS34324.1	5																																																																																			-	GNB2L1	-	-		0.512	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	0	0	0	58	58	67	0.00	0.00	G	NM_006098		180670201	-1	4	14	45	81	tier1	no_errors	ENST00000514318	ensembl	human	putative	74_37	rna	8.16	14.74	SNP	0.003	A	4	45
ZNF521	25925	genome.wustl.edu	37	18	22804482	22804482	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr18:22804482C>G	ENST00000361524.3	-	4	3548	c.3400G>C	c.(3400-3402)Ggg>Cgg	p.G1134R	ZNF521_ENST00000584787.1_Missense_Mutation_p.G914R|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1134R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCAGTCCCCCCACCTTGCCT	0.547			T	PAX5	ALL								ENSG00000198795																												Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													146.0	126.0	133.0					18																	22804482		2203	4300	6503	SO:0001583	missense	0			-	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3400G>C	18.37:g.22804482C>G	ENSP00000354794:p.Gly1134Arg		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1134R	ENST00000361524.3	37	c.3400	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023022	0.07634	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08546	3.09;3.08	5.98	5.11	0.69529	.	0.469690	0.23836	N	0.044088	T	0.06096	0.0158	N	0.08118	0	0.40382	D	0.979459	B	0.32101	0.356	B	0.34652	0.187	T	0.43491	-0.9388	10	0.62326	D	0.03	-19.3037	13.5646	0.61810	0.0:0.9286:0.0:0.0714	.	1134	Q96K83	ZN521_HUMAN	R	1134;1168;1134	ENSP00000354794:G1134R;ENSP00000382352:G1134R	ENSP00000354794:G1134R	G	-	1	0	ZNF521	21058480	0.893000	0.30496	0.599000	0.28851	0.097000	0.18754	2.268000	0.43338	1.544000	0.49359	0.650000	0.86243	GGG	-	ZNF521	-	NULL		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	0	0	0	115	115	58	0.00	0.00	C	NM_015461		22804482	-1	17	10	123	86	tier1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	12.14	10.42	SNP	0.992	G	17	123
ZNF710	374655	genome.wustl.edu	37	15	90617472	90617472	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr15:90617472G>A	ENST00000268154.4	+	4	2026	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AACCTGAGCCGGCACATGAAG	0.577													ENSG00000140548																																					0													57.0	50.0	52.0					15																	90617472		2200	4298	6498	SO:0001583	missense	0			-	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1775G>A	15.37:g.90617472G>A	ENSP00000268154:p.Arg592Gln		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R592Q	ENST00000268154.4	37	c.1775	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040424	0.93630	.	.	ENSG00000140548	ENST00000268154	T	0.07444	3.19	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.213498	0.29145	N	0.013013	T	0.19087	0.0458	L	0.38953	1.18	0.43230	D	0.995123	D	0.89917	1.0	D	0.70227	0.968	T	0.02860	-1.1101	10	0.21540	T	0.41	-39.5858	17.485	0.87684	0.0:0.0:1.0:0.0	.	592	Q8N1W2	ZN710_HUMAN	Q	592	ENSP00000268154:R592Q	ENSP00000268154:R592Q	R	+	2	0	ZNF710	88418476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.704000	0.92352	0.650000	0.86243	CGG	-	ZNF710	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	0	0	0	41	41	41	0.00	0.00	G	NM_198526		90617472	+1	4	6	40	15	tier1	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	9.09	28.57	SNP	1.000	A	4	40
ERICH3	127254	genome.wustl.edu	37	1	75078322	75078322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:75078322delG	ENST00000326665.5	-	9	1390	c.1172delC	c.(1171-1173)tcafs	p.S392fs	C1orf173_ENST00000420661.2_Frame_Shift_Del_p.S195fs|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		392										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAAGGAGATGATCTCTCAAC	0.423													ENSG00000178965																																					0													133.0	118.0	123.0					1																	75078322		2203	4300	6503	SO:0001589	frameshift_variant	0																															ENST00000326665.5:c.1172delC	1.37:g.75078322delG	ENSP00000322609:p.Ser392fs		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL	NULL	p.S391fs	ENST00000326665.5	37	c.1172	CCDS30755.1	1																																																																																				C1orf173	-	NULL		0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	0	0	0	107	107	149	0.00	0.00	G			75078322	-1	20	22	111	101	tier1	no_errors	ENST00000326665	ensembl	human	known	74_37	frame_shift_del	15.27	17.89	DEL	1.000	-	20	111
NAA40	79829	genome.wustl.edu	37	11	63720082	63720082	+	Intron	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr11:63720082G>A	ENST00000377793.4	+	5	511				NAA40_ENST00000542163.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_Intron|NAA40_ENST00000539656.1_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit						lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGACCCTGGCGATGTTCCAGG	0.577													ENSG00000110583																																					0													81.0	72.0	75.0					11																	63720082		2201	4297	6498	SO:0001627	intron_variant	0			-	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.410+45G>A	11.37:g.63720082G>A			B4DR03|B4DU10|Q5HYL5|Q9H897	R	SNP	-	NULL	ENST00000377793.4	37	NULL	CCDS8053.1	11																																																																																			-	A40	-	-		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A40	HGNC	protein_coding	OTTHUMT00000396266.1	0	0	0	65	65	57	0.00	0.00	G	NM_024771		63720082	+1	8	4	91	42	tier1	no_errors	ENST00000536939	ensembl	human	known	74_37	rna	8.08	8.70	SNP	0.002	A	8	91
CSMD2	114784	genome.wustl.edu	37	1	34002679	34002679	+	Silent	SNP	C	C	T	rs61801993	byFrequency	TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:34002679C>T	ENST00000373381.4	-	62	9998	c.9822G>A	c.(9820-9822)acG>acA	p.T3274T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCCGCACACGTGGTCAGGG	0.517													ENSG00000121904																																					0													144.0	122.0	129.0					1																	34002679		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9822G>A	1.37:g.34002679C>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3274	ENST00000373381.4	37	c.9822		1																																																																																			-	CSMD2	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		0	0	0	84	84	99	0.00	0.00	C	NM_052896		34002679	-1	16	9	98	114	tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	14.04	7.32	SNP	0.656	T	16	98
NF1	4763	genome.wustl.edu	37	17	29560033	29560033	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr17:29560033C>G	ENST00000358273.4	+	27	3893	c.3510C>G	c.(3508-3510)caC>caG	p.H1170Q	NF1_ENST00000356175.3_Missense_Mutation_p.H1170Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1170					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGGTTACCACAAGGATCTCC	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			ENSG00000196712																											yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											81.0	75.0	77.0					17																	29560033		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3510C>G	17.37:g.29560033C>G	ENSP00000351015:p.His1170Gln		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.H1170Q	ENST00000358273.4	37	c.3510	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260572	0.59431	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.64803	-0.12;3.06;2.75	5.73	4.75	0.60458	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.96;0.985	P;P;D;P	0.69142	0.849;0.894;0.962;0.84	T	0.80574	-0.1322	10	0.72032	D	0.01	.	11.8095	0.52175	0.0:0.8463:0.0:0.1537	.	1170;220;1170;1170	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	Q	1170;1170;836	ENSP00000351015:H1170Q;ENSP00000348498:H1170Q;ENSP00000389907:H836Q	ENSP00000348498:H1170Q	H	+	3	2	NF1	26584159	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.440000	0.35024	1.397000	0.46682	0.555000	0.69702	CAC	-	NF1	-	superfamily_ARM-type_fold		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	0	0	0	82	82	89	0.00	0.00	C	NM_000267		29560033	+1	12	6	110	89	tier1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	9.84	6.32	SNP	1.000	G	12	110
DLX2	1746	genome.wustl.edu	37	2	172966994	172966994	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr2:172966994C>G	ENST00000234198.4	-	1	634	c.273G>C	c.(271-273)caG>caC	p.Q91H	DLX2_ENST00000466293.2_Missense_Mutation_p.Q91H|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	91					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCTTGGTACTGGTAGGAAC	0.662													ENSG00000115844																									GBM(188;775 2993 11256 23072)												0													92.0	85.0	88.0					2																	172966994		2203	4300	6503	SO:0001583	missense	0			-	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.273G>C	2.37:g.172966994C>G	ENSP00000234198:p.Gln91His		B4DMK4|B7ZA14	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q91H	ENST00000234198.4	37	c.273	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851678	0.71719	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	D;D	0.93659	-2.79;-3.26	4.61	3.72	0.42706	.	0.060924	0.64402	N	0.000002	D	0.94876	0.8344	M	0.72479	2.2	0.54753	D	0.999983	D;P	0.65815	0.995;0.774	D;B	0.66497	0.944;0.345	D	0.93494	0.6838	10	0.40728	T	0.16	-18.9762	8.7181	0.34423	0.0:0.7585:0.1545:0.087	.	91;91	B7ZA14;Q07687	.;DLX2_HUMAN	H	91	ENSP00000234198:Q91H;ENSP00000446904:Q91H	ENSP00000234198:Q91H	Q	-	3	2	DLX2	172675240	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.446000	0.35090	2.103000	0.63969	0.561000	0.74099	CAG	-	DLX2	-	pfam_Distal-less_N		0.662	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3	0	0	0	229	229	64	0.00	0.00	C			172966994	-1	41	7	373	80	tier1	no_errors	ENST00000234198	ensembl	human	known	74_37	missense	9.90	8.05	SNP	1.000	G	41	373
HNF1B	6928	genome.wustl.edu	37	17	36104586	36104586	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr17:36104586G>A	ENST00000225893.4	-	1	651	c.290C>T	c.(289-291)gCg>gTg	p.A97V	HNF1B_ENST00000561193.1_Missense_Mutation_p.A97V|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_Missense_Mutation_p.A97V|HNF1B_ENST00000427275.2_Missense_Mutation_p.A97V	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	97					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGTGTTGAGCGCCTGCAGCTC	0.692													ENSG00000108753																									Colon(71;102 1179 9001 27917 43397)												0													45.0	50.0	48.0					17																	36104586		2203	4299	6502	SO:0001583	missense	0			-	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.290C>T	17.37:g.36104586G>A	ENSP00000225893:p.Ala97Val		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A97V	ENST00000225893.4	37	c.290	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147887	0.57151	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98550	-4.99;-4.99	5.13	4.14	0.48551	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.169055	0.53938	D	0.000058	D	0.95316	0.8480	L	0.29908	0.895	0.40532	D	0.980941	B;B	0.30179	0.126;0.271	B;B	0.25140	0.036;0.058	D	0.94385	0.7608	10	0.56958	D	0.05	8.6033	14.7146	0.69257	0.0:0.1457:0.8543:0.0	.	97;97	E0YMJ6;P35680	.;HNF1B_HUMAN	V	97	ENSP00000225893:A97V;ENSP00000412212:A97V	ENSP00000225893:A97V	A	-	2	0	HNF1B	33178699	0.088000	0.21588	0.998000	0.56505	0.992000	0.81027	1.959000	0.40412	1.350000	0.45770	0.561000	0.74099	GCG	-	HNF1B	-	pfam_HNF-1_N,superfamily_Lambda_D-bd_dom		0.692	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	0	0	0	156	156	5	0.00	0.00	G	NM_000458		36104586	-1	19	1	167	7	tier1	no_errors	ENST00000225893	ensembl	human	known	74_37	missense	10.22	12.50	SNP	1.000	A	19	167
LOR	4014	genome.wustl.edu	37	1	153233982	153233984	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:153233982_153233984delTCT	ENST00000368742.3	+	2	614_616	c.557_559delTCT	c.(556-561)gtctgc>ggc	p.186_187VC>G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	186					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcggctctgtctgcggctactc	0.744													ENSG00000203782																																					0										26,716		11,4,356						-3.1	0.0		dbSNP_120	1	116,1736		32,52,842	no	coding	LOR	NM_000427.2		43,56,1198	A1A1,A1R,RR		6.2635,3.504,5.4742				142,2452				SO:0001651	inframe_deletion	0				M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.557_559delTCT	1.37:g.153233982_153233984delTCT	ENSP00000357731:p.Val186_Cys187delinsGly		Q5T869|Q5XKF8	In_Frame_Del	DEL	NULL	p.VC186in_frame_delG	ENST00000368742.3	37	c.557_559	CCDS30870.1	1																																																																																				LOR	-	NULL		0.744	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	HGNC	protein_coding	OTTHUMT00000039107.1	0	0	0	10	10	1	0.00	0.00	TCT	NM_000427		153233984	+1	4	0	9	1	tier1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_del	30.77	0.00	DEL	0.000:0.001:0.002	-	4	9
PIPSL	266971	genome.wustl.edu	37	10	95718421	95718421	+	RNA	SNP	C	C	T	rs369509654|rs373180658|rs369637645	byFrequency	TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr10:95718421C>T	ENST00000480546.1	-	0	2876					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ttctttctttctttttttttt	0.308													ENSG00000180764	T|||	366	0.0730831	0.1581	0.0648	5008	,	,		17300	0.0387		0.0427	False		,,,				2504	0.0307																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.95718421C>T			Q6NUK8	R	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			-	PIPSL	-	-		0.308	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	0	0	0	32	32	0	0.00	0.00	C	NR_002319		95718421	-1	5	0	25	0	tier1	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	16.67	0.00	SNP	0.148	T	5	25
KIAA1598	57698	genome.wustl.edu	37	10	118689409	118689409	+	Silent	SNP	T	T	C			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr10:118689409T>C	ENST00000355371.4	-	10	1460	c.963A>G	c.(961-963)gaA>gaG	p.E321E	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.E321E|KIAA1598_ENST00000392903.2_Silent_p.E321E|KIAA1598_ENST00000392901.4_Silent_p.E261E	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	321					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GATATTTCAATTCCAATTCCT	0.333													ENSG00000187164																																					0													188.0	180.0	183.0					10																	118689409		2202	4299	6501	SO:0001819	synonymous_variant	0			-	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.963A>G	10.37:g.118689409T>C			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.E321	ENST00000355371.4	37	c.963	CCDS44482.1	10																																																																																			-	KIAA1598	-	superfamily_Adenylate_cyclase-assoc_CAP_N		0.333	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		0	0	0	189	189	127	0.00	0.00	T	NM_018330		118689409	-1	27	3	188	63	tier1	no_errors	ENST00000392903	ensembl	human	known	74_37	silent	12.56	4.55	SNP	0.630	C	27	188
WNK2	65268	genome.wustl.edu	37	9	96030314	96030326	+	Frame_Shift_Del	DEL	TCCCAAGCCAACG	TCCCAAGCCAACG	-	rs148431579|rs145181072		TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	TCCCAAGCCAACG	TCCCAAGCCAACG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr9:96030314_96030326delTCCCAAGCCAACG	ENST00000297954.4	+	17	3880_3892	c.3880_3892delTCCCAAGCCAACG	c.(3880-3894)tcccaagccaacgccfs	p.SQANA1294fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Frame_Shift_Del_p.SQANA906fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.SQANA1294fs|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Frame_Shift_Del_p.SQANA906fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1294					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAGCCGACAATCCCAAGCCAACGCCCCCGTGTA	0.587													ENSG00000165238																																					0																																										SO:0001589	frameshift_variant	0				AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3880_3892delTCCCAAGCCAACG	9.37:g.96030314_96030326delTCCCAAGCCAACG	ENSP00000297954:p.Ser1294fs		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1294fs	ENST00000297954.4	37	c.3880_3892		9																																																																																				WNK2	-	NULL		0.587	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	0	0	0	68	68	68	0.00	0.00	TCCCAAGCCAACG	NM_006648		96030326	+1	3	3	57	57	tier1	no_errors	ENST00000297954	ensembl	human	known	74_37	frame_shift_del	5.00	5.00	DEL	0.968:1.000:0.997:1.000:0.962:0.188:0.002:0.001:0.000:0.037:0.042:0.034:0.972	-	3	57
