#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
ACTN4	81	genome.wustl.edu	37	19	39216514	39216514	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr19:39216514G>T	ENST00000252699.2	+	17	2237	c.2161G>T	c.(2161-2163)Gac>Tac	p.D721Y	ACTN4_ENST00000390009.3_Missense_Mutation_p.D502Y|ACTN4_ENST00000424234.2_Missense_Mutation_p.D331Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	721					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTCATCTTCGACAACAAGCA	0.612																																					Colon(168;199 1940 10254 46213 46384)	dbGAP											0													122.0	98.0	106.0					19																	39216514		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2161G>T	19.37:g.39216514G>T	ENSP00000252699:p.Asp721Tyr		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.D721Y	ENST00000252699.2	37	c.2161	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403850	0.62288	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	M	0.85542	2.76	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.77696	-0.2491	10	0.87932	D	0	.	15.246	0.73507	0.0:0.0:1.0:0.0	.	721	O43707	ACTN4_HUMAN	Y	721;331;502;157	ENSP00000252699:D721Y;ENSP00000411187:D331Y;ENSP00000439497:D502Y;ENSP00000398393:D157Y	ENSP00000252699:D721Y	D	+	1	0	ACTN4	43908354	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.601000	0.98297	2.182000	0.69389	0.561000	0.74099	GAC	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000130402		0.612	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	93	0.00	0	G			39216514	39216514	+1	no_errors	ENST00000252699	ensembl	human	known	69_37n	missense	102	19.05	24	SNP	1.000	T
ATXN1	6310	genome.wustl.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	byFrequency	TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr6:16327907_16327909delTGA	ENST00000244769.4	-	8	1569_1571	c.633_635delTCA	c.(631-636)catcag>cag	p.H211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.67																																						dbGAP											1	Deletion - In frame(1)	prostate(1)																																								-	-	-	SO:0001651	inframe_deletion	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.633_635delTCA	6.37:g.16327907_16327909delTGA	ENSP00000244769:p.His211del		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.H211in_frame_del	ENST00000244769.4	37	c.635_633	CCDS34342.1	6																																																																																			ATXN1	-	NULL	ENSG00000124788		0.670	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	9	0.00	0	TGA	NM_000332		16327907	16327909	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	in_frame_del	16	30.43	7	DEL	0.024:0.024:0.024	-
DIP2B	57609	genome.wustl.edu	37	12	51128870	51128870	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr12:51128870A>G	ENST00000301180.5	+	34	4092	c.4058A>G	c.(4057-4059)gAa>gGa	p.E1353G		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1353						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTCTCGTGGAACGTGGCGCC	0.502											OREG0021816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													156.0	145.0	148.0					12																	51128870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4058A>G	12.37:g.51128870A>G	ENSP00000301180:p.Glu1353Gly	975	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E1353G	ENST00000301180.5	37	c.4058	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	A	24.6	4.543969	0.86022	.	.	ENSG00000066084	ENST00000301180	T	0.26373	1.74	4.79	4.79	0.61399	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41016	-0.9532	10	0.39692	T	0.17	-25.4382	15.3909	0.74741	1.0:0.0:0.0:0.0	.	1353	Q9P265	DIP2B_HUMAN	G	1353	ENSP00000301180:E1353G	ENSP00000301180:E1353G	E	+	2	0	DIP2B	49415137	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.918000	0.92759	2.371000	0.80710	0.533000	0.62120	GAA	DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.502	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	372	0.00	0	A	NM_173602		51128870	51128870	+1	no_errors	ENST00000301180	ensembl	human	known	69_37n	missense	183	34.41	96	SNP	1.000	G
DIS3	22894	genome.wustl.edu	37	13	73349502	73349502	+	Silent	SNP	C	C	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr13:73349502C>T	ENST00000377767.4	-	6	934	c.834G>A	c.(832-834)caG>caA	p.Q278Q	DIS3_ENST00000545453.1_Silent_p.Q116Q|DIS3_ENST00000377780.4_Silent_p.Q248Q	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	278					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GTTTAAGTCCCTGTAAGATTA	0.383										Multiple Myeloma(4;0.011)																												dbGAP											0													100.0	102.0	101.0					13																	73349502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.834G>A	13.37:g.73349502C>T			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.Q278	ENST00000377767.4	37	c.834	CCDS9447.1	13																																																																																			DIS3	-	NULL	ENSG00000083520		0.383	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	251	0.00	0	C	NM_014953		73349502	73349502	-1	no_errors	ENST00000377767	ensembl	human	known	69_37n	silent	105	44.74	85	SNP	1.000	T
ESR1	2099	genome.wustl.edu	37	6	152129128	152129131	+	Frame_Shift_Del	DEL	CCGT	CCGT	-	rs146774945		TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	CCGT	CCGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr6:152129128_152129131delCCGT	ENST00000206249.3	+	1	443_446	c.81_84delCCGT	c.(79-84)aaccgtfs	p.NR27fs	ESR1_ENST00000440973.1_Frame_Shift_Del_p.NR27fs|ESR1_ENST00000338799.5_Frame_Shift_Del_p.NR27fs|ESR1_ENST00000443427.1_Frame_Shift_Del_p.NR27fs|ESR1_ENST00000406599.1_Frame_Shift_Del_p.NR27fs|ESR1_ENST00000456483.2_Frame_Shift_Del_p.NR27fs|ESR1_ENST00000427531.2_5'Flank	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	27	Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	AGCCCCTGAACCGTCCGCAGCTCA	0.657																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.81_84delCCGT	6.37:g.152129128_152129131delCCGT	ENSP00000206249:p.Asn27fs		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Frame_Shift_Del	DEL	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P29fs	ENST00000206249.3	37	c.81_84	CCDS5234.1	6																																																																																			ESR1	-	prints_Oestr_rcpt	ENSG00000091831		0.657	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	25	0.00	0	CCGT			152129128	152129131	+1	no_errors	ENST00000206249	ensembl	human	known	69_37n	frame_shift_del	16	29.17	7	DEL	0.656:0.976:0.987:0.995	-
GATA3	2625	genome.wustl.edu	37	10	8115922	8115923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr10:8115922_8115923insC	ENST00000346208.3	+	6	1723_1724	c.1268_1269insC	c.(1267-1272)cacccgfs	p.HP423fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.HP424fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	423					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACGCCGATGCACCCGCCATCCA	0.644			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1271dupC	10.37:g.8115925_8115925dupC	ENSP00000341619:p.His423fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P426fs	ENST00000346208.3	37	c.1271_1272	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.644	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	111	0.00	0	-	NM_001002295		8115922	8115923	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	87	30.40	38	INS	1.000:1.000	C
NUTM2D	728130	genome.wustl.edu	37	10	89124862	89124862	+	Missense_Mutation	SNP	G	G	A	rs200907148	byFrequency	TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr10:89124862G>A	ENST00000381697.2	+	5	2018	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	NUTM2D_ENST00000412718.1_Missense_Mutation_p.E474K			Q5VT03	NTM2D_HUMAN	NUT family member 2D	474																	GGAAGAGGGCGAAGTGAAGCA	0.617													N|||	593	0.118411	0.0605	0.134	5008	,	,		10359	0.0536		0.175	False		,,,				2504	0.1943					dbGAP											0																																										-	-	-	SO:0001583	missense	0					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.1420G>A	10.37:g.89124862G>A	ENSP00000371116:p.Glu474Lys		A6NGV9	Missense_Mutation	SNP	NULL	p.E474K	ENST00000381697.2	37	c.1420		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.715|4.715	0.132979|0.132979	0.09032|0.09032	.|.	.|.	ENSG00000214562|ENSG00000214562	ENST00000330762;ENST00000381697;ENST00000381691;ENST00000412718|ENST00000451669	T;T|.	0.23147|.	2.72;1.92|.	0.628|0.628	-0.517|-0.517	0.11947|0.11947	Nuclear Testis protein, C-terminal (1);|.	2.599710|.	0.01260|.	N|.	0.009155|.	T|T	0.23886|0.23886	0.0578|0.0578	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.24317|.	0.101;0.066|.	B;B|.	0.20767|.	0.031;0.012|.	T|T	0.26815|0.26815	-1.0092|-1.0092	8|3	0.14252|.	T|.	0.57|.	.|.	.|.	.|.	.|.	.|.	474;474|.	Q5VT03-2;Q5VT03|.	.;FA22D_HUMAN|.	K|Q	545;474;23;474|12	ENSP00000371116:E474K;ENSP00000396080:E474K|.	ENSP00000328439:E545K|.	E|R	+|+	1|2	0|0	FAM22D|FAM22D	89114842|89114842	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.247000|0.247000	0.25773|0.25773	-0.178000|-0.178000	0.09782|0.09782	-0.238000|-0.238000	0.09724|0.09724	0.195000|0.195000	0.17529|0.17529	GAA|CGA	FAM22D	-	NULL	ENSG00000214562		0.617	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	HGNC	protein_coding	OTTHUMT00000470142.1	17	0.00	0	G	NR_075100		89124862	89124862	+1	no_errors	ENST00000381697	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.000	A
GDPD1	284161	genome.wustl.edu	37	17	57326133	57326133	+	Silent	SNP	C	C	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr17:57326133C>T	ENST00000284116.4	+	4	491	c.354C>T	c.(352-354)gtC>gtT	p.V118V	GDPD1_ENST00000581276.1_Silent_p.V118V|GDPD1_ENST00000581140.1_Silent_p.V118V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	118	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AACTGGATGTCTCATTTCAAA	0.294																																						dbGAP											0													199.0	198.0	198.0					17																	57326133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.354C>T	17.37:g.57326133C>T			A8W735|Q56VR1|Q8N4E3	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.V118	ENST00000284116.4	37	c.354	CCDS11616.1	17																																																																																			GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.294	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	685	0.29	2	C	NM_182569		57326133	57326133	+1	no_errors	ENST00000284116	ensembl	human	known	69_37n	silent	423	14.02	69	SNP	0.997	T
HLA-A	3105	genome.wustl.edu	37	6	29911272	29911272	+	Missense_Mutation	SNP	T	T	G	rs76185201	byFrequency	TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr6:29911272T>G	ENST00000396634.1	+	5	912	c.571T>G	c.(571-573)Tgg>Ggg	p.W191G	HLA-A_ENST00000376806.5_Missense_Mutation_p.W191G|HLA-A_ENST00000376809.5_Missense_Mutation_p.W191G|HLA-A_ENST00000376802.2_Missense_Mutation_p.W191G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	191	Alpha-2.		EW -> DG (in allele A*31:05).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGCGTGGAGTGGCTCCGCAG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			t|||	1062	0.212061	0.1672	0.2075	5008	,	,		13907	0.2173		0.2058	False		,,,				2504	0.2771					dbGAP											0													49.0	39.0	43.0					6																	29911272		1510	2705	4215	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.571T>G	6.37:g.29911272T>G	ENSP00000379873:p.Trp191Gly		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.W191G	ENST00000396634.1	37	c.571	CCDS34373.1	6	418	0.19139194139194138	56	0.11382113821138211	77	0.212707182320442	139	0.243006993006993	146	0.19261213720316622	.	8.499	0.863893	0.17250	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00014	9.21;9.21;9.21;9.21	3.78	-2.67	0.06059	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	2.778300	0.01729	U	0.028724	T	0.00039	0.0001	M	0.83483	2.645	0.80722	P	0.0	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.0;0.001;0.001	T	0.37979	-0.9682	9	0.59425	D	0.04	.	4.7021	0.12832	0.0:0.188:0.3051:0.5069	rs3098019;rs9260161;rs41558617;rs52818888	70;191;191;191;191;191;191	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	G	191	ENSP00000379873:W191G;ENSP00000366002:W191G;ENSP00000366005:W191G;ENSP00000365998:W191G	ENSP00000365998:W191G	W	+	1	0	HLA-A	30019251	0.737000	0.28175	0.000000	0.03702	0.112000	0.19704	0.741000	0.26202	-0.555000	0.06142	0.397000	0.26171	TGG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	ENSG00000206503		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	9	0.00	0	T	NM_002116		29911272	29911272	+1	no_errors	ENST00000376806	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.126	G
LTBP4	8425	genome.wustl.edu	37	19	41125311	41125311	+	Nonsense_Mutation	SNP	G	G	T	rs376495657		TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr19:41125311G>T	ENST00000308370.7	+	26	3328	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.E164*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.E478*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1073*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1043*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1111	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAAATGTCGAAGGCTCCTT	0.537																																						dbGAP											0													124.0	125.0	125.0					19																	41125311		1996	4178	6174	-	-	-	SO:0001587	stop_gained	0			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3328G>T	19.37:g.41125311G>T	ENSP00000311905:p.Glu1110*		O00508|O75412|O75413	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1110*	ENST00000308370.7	37	c.3328		19	.	.	.	.	.	.	.	.	.	.	G	38	6.652258	0.97734	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	3.86	3.86	0.44501	.	0.000000	0.38111	N	0.001815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.0726	0.72049	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;478;1110;1043;164	.	ENSP00000204005:E1073X	E	+	1	0	LTBP4	45817151	1.000000	0.71417	0.936000	0.37596	0.179000	0.23085	7.640000	0.83355	2.162000	0.67917	0.313000	0.20887	GAA	LTBP4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000090006		0.537	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		187	0.00	0	G	NM_003573		41125311	41125311	+1	no_errors	ENST00000308370	ensembl	human	known	69_37n	nonsense	130	35.00	70	SNP	0.996	T
MAP3K1	4214	genome.wustl.edu	37	5	56152454	56152455	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr5:56152454_56152455insA	ENST00000399503.3	+	2	510_511	c.510_511insA	c.(511-513)aaafs	p.K171fs	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	171					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGAAACTCTCAAAGGGTTGCA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.513dupA	5.37:g.56152457_56152457dupA	ENSP00000382423:p.Lys171fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.G171fs	ENST00000399503.3	37	c.510_511	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.396	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	264	0.00	0	-	XM_042066		56152454	56152455	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	92	36.99	54	INS	0.997:1.000	A
MGAM	8972	genome.wustl.edu	37	7	141752647	141752647	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr7:141752647G>T	ENST00000549489.2	+	26	3117	c.3022G>T	c.(3022-3024)Gtt>Ttt	p.V1008F	MGAM_ENST00000475668.2_Missense_Mutation_p.V1008F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1008					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCAGTGATGTTCAGTATAA	0.478																																						dbGAP											0													162.0	150.0	154.0					7																	141752647		1908	4128	6036	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3022G>T	7.37:g.141752647G>T	ENSP00000447378:p.Val1008Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.V1008F	ENST00000549489.2	37	c.3022	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678212	0.29783	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.14022	2.54	4.24	-1.96	0.07525	Glycoside hydrolase-type carbohydrate-binding (1);	1.217710	0.06222	N	0.686882	T	0.19167	0.0460	M	0.78344	2.41	0.09310	N	0.999994	B	0.19331	0.035	B	0.17098	0.017	T	0.42599	-0.9442	10	0.54805	T	0.06	.	9.9166	0.41439	0.4963:0.0:0.5037:0.0	.	1008	O43451	MGA_HUMAN	F	1008;1008;885	ENSP00000447378:V1008F	ENSP00000316431:V885F	V	+	1	0	MGAM	141399116	0.000000	0.05858	0.044000	0.18714	0.063000	0.16089	-1.504000	0.02275	-0.343000	0.08351	0.460000	0.39030	GTT	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	307	0.32	1	G			141752647	141752647	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	155	38.74	98	SNP	0.014	T
MMP15	4324	genome.wustl.edu	37	16	58075625	58075625	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr16:58075625C>A	ENST00000219271.3	+	6	1800	c.1015C>A	c.(1015-1017)Ccc>Acc	p.P339T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	339	Poly-Pro.				cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCAGCCACCACCCCCAGGTGG	0.746																																						dbGAP											0													9.0	11.0	11.0					16																	58075625		2136	4189	6325	-	-	-	SO:0001583	missense	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1015C>A	16.37:g.58075625C>A	ENSP00000219271:p.Pro339Thr		A0A2U6|Q14111	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.P339T	ENST00000219271.3	37	c.1015	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079874	0.55753	.	.	ENSG00000102996	ENST00000219271	T	0.16073	2.37	4.64	4.64	0.57946	.	0.063917	0.64402	D	0.000005	T	0.23611	0.0571	M	0.73217	2.22	0.45183	D	0.998197	P	0.51240	0.943	B	0.43445	0.42	T	0.05435	-1.0885	10	0.32370	T	0.25	.	15.0094	0.71539	0.0:1.0:0.0:0.0	.	339	P51511	MMP15_HUMAN	T	339	ENSP00000219271:P339T	ENSP00000219271:P339T	P	+	1	0	MMP15	56633126	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.211000	0.58507	2.151000	0.67156	0.491000	0.48974	CCC	MMP15	-	pirsf_Pept_M10A_matrix_strom	ENSG00000102996		0.746	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	11	0.00	0	C	NM_002428		58075625	58075625	+1	no_errors	ENST00000219271	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	A
MYO7A	4647	genome.wustl.edu	37	11	76872024	76872024	+	Silent	SNP	C	C	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr11:76872024C>T	ENST00000409709.3	+	12	1478	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	MYO7A_ENST00000409893.1_Silent_p.I402I|MYO7A_ENST00000409619.2_Silent_p.I391I|MYO7A_ENST00000458637.2_Silent_p.I402I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	402	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCAGGGGATCTACGGGCGGC	0.617																																						dbGAP											0													55.0	62.0	60.0					11																	76872024		1983	4153	6136	-	-	-	SO:0001819	synonymous_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1206C>T	11.37:g.76872024C>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I402	ENST00000409709.3	37	c.1206	CCDS53683.1	11																																																																																			MYO7A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000137474		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	143	0.00	0	C	NM_000260		76872024	76872024	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	silent	174	30.68	77	SNP	0.996	T
OR10Z1	128368	genome.wustl.edu	37	1	158577134	158577134	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr1:158577134G>C	ENST00000361284.1	+	1	906	c.906G>C	c.(904-906)agG>agC	p.R302S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCTGAGGAATGCTTTCA	0.458																																						dbGAP											0													144.0	145.0	145.0					1																	158577134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.906G>C	1.37:g.158577134G>C	ENSP00000354707:p.Arg302Ser		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R302S	ENST00000361284.1	37	c.906	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	G	4.785	0.145917	0.09134	.	.	ENSG00000198967	ENST00000361284	T	0.39787	1.06	5.19	1.63	0.23807	.	0.385118	0.19078	N	0.123309	T	0.12902	0.0313	L	0.39566	1.225	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.20009	-1.0288	10	0.52906	T	0.07	.	4.1115	0.10062	0.567:0.0:0.2817:0.1513	.	302	Q8NGY1	O10Z1_HUMAN	S	302	ENSP00000354707:R302S	ENSP00000354707:R302S	R	+	3	2	OR10Z1	156843758	0.001000	0.12720	0.918000	0.36340	0.157000	0.22087	0.279000	0.18771	0.450000	0.26774	-0.312000	0.09012	AGG	OR10Z1	-	NULL	ENSG00000198967		0.458	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	182	0.00	0	G	NM_001004478		158577134	158577134	+1	no_errors	ENST00000361284	ensembl	human	known	69_37n	missense	139	27.23	52	SNP	0.032	C
SLC12A5	57468	genome.wustl.edu	37	20	44665941	44665941	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr20:44665941G>T	ENST00000454036.2	+	6	647	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	SLC12A5_ENST00000372315.1_Missense_Mutation_p.G177W|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G177W	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	200					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCAGAGTTTGGGGGTGCCGT	0.592																																						dbGAP											0													78.0	69.0	72.0					20																	44665941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.598G>T	20.37:g.44665941G>T	ENSP00000387694:p.Gly200Trp		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G200W	ENST00000454036.2	37	c.598	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534027	0.85812	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99807	-6.85;-6.85;-6.85	4.79	4.79	0.61399	Amino acid permease domain (1);	0.118682	0.56097	D	0.000023	D	0.99887	0.9946	H	0.99042	4.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96167	0.9120	10	0.87932	D	0	.	17.0107	0.86405	0.0:0.0:1.0:0.0	.	200;177;177	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	W	200;177;177	ENSP00000387694:G200W;ENSP00000361389:G177W;ENSP00000243964:G177W	ENSP00000243964:G177W	G	+	1	0	SLC12A5	44099348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.492000	0.84095	0.655000	0.94253	GGG	SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	191	0.00	0	G			44665941	44665941	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	121	40.39	82	SNP	1.000	T
SLC24A5	283652	genome.wustl.edu	37	15	48431272	48431272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr15:48431272delA	ENST00000341459.3	+	7	1051	c.978delA	c.(976-978)agafs	p.R326fs	SLC24A5_ENST00000449382.2_Frame_Shift_Del_p.R266fs	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	326					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAGATTGTAGAAAAAAGTTTT	0.328																																						dbGAP											0													77.0	76.0	76.0					15																	48431272		2198	4292	6490	-	-	-	SO:0001589	frameshift_variant	0			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.978delA	15.37:g.48431272delA	ENSP00000341550:p.Arg326fs		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Frame_Shift_Del	DEL	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.K328fs	ENST00000341459.3	37	c.978	CCDS10128.1	15																																																																																			SLC24A5	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000188467		0.328	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	153	0.00	0	A	NM_205850		48431272	48431272	+1	no_errors	ENST00000341459	ensembl	human	known	69_37n	frame_shift_del	98	26.47	36	DEL	1.000	-
SNX20	124460	genome.wustl.edu	37	16	50709816	50709816	+	Silent	SNP	C	C	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr16:50709816C>T	ENST00000330943.4	-	3	318	c.147G>A	c.(145-147)ctG>ctA	p.L49L	SNX20_ENST00000300590.3_Silent_p.L49L|SNX20_ENST00000423026.2_Silent_p.L49L	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	49					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGTTGGAGCTCAGGCCACTGT	0.562																																						dbGAP											0													96.0	84.0	88.0					16																	50709816		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.147G>A	16.37:g.50709816C>T			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L49	ENST00000330943.4	37	c.147	CCDS10745.1	16																																																																																			SNX20	-	NULL	ENSG00000167208		0.562	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	90	0.00	0	C	NM_153337		50709816	50709816	-1	no_errors	ENST00000330943	ensembl	human	known	69_37n	silent	51	50.96	53	SNP	0.046	T
SLC38A8	146167	genome.wustl.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677																																						dbGAP											2	Substitution - Missense(2)	lung(2)											38.0	42.0	40.0					16																	84050323		2199	4300	6499	-	-	-	SO:0001583	missense	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.963G>A	16.37:g.84050323C>T	ENSP00000299709:p.Met321Ile			Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.M321I	ENST00000299709.3	37	c.963	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.753556	0.00663	.	.	ENSG00000166558	ENST00000299709	T	0.01854	4.6	4.36	1.56	0.23342	.	0.718177	0.14396	N	0.322191	T	0.01061	0.0035	N	0.04746	-0.17	0.29190	N	0.875916	B	0.06786	0.001	B	0.04013	0.001	T	0.45264	-0.9273	10	0.07175	T	0.84	.	7.069	0.25167	0.0:0.6243:0.2693:0.1065	.	321	A6NNN8	S38A8_HUMAN	I	321	ENSP00000299709:M321I	ENSP00000299709:M321I	M	-	3	0	SLC38A8	82607824	0.998000	0.40836	1.000000	0.80357	0.256000	0.26092	0.303000	0.19210	1.986000	0.57962	0.478000	0.44815	ATG	SLC38A8	-	pfam_AA_transpt_TM	ENSG00000166558		0.677	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	51	0.00	0	C	NM_001080442		84050323	84050323	-1	no_errors	ENST00000299709	ensembl	human	known	69_37n	missense	15	58.33	21	SNP	1.000	T
USP11	8237	genome.wustl.edu	37	X	47101513	47101513	+	Silent	SNP	A	A	G			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chrX:47101513A>G	ENST00000218348.3	+	10	1341	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K	USP11_ENST00000377107.2_Silent_p.K404K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	447	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AAAACCACAAACGGCGGAACG	0.567																																						dbGAP											0													114.0	77.0	89.0					X																	47101513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1341A>G	X.37:g.47101513A>G			B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.K447	ENST00000218348.3	37	c.1341	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000102226		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		154	0.00	0	A	NM_004651		47101513	47101513	+1	no_errors	ENST00000218348	ensembl	human	known	69_37n	silent	91	42.41	67	SNP	1.000	G
WRNIP1	56897	genome.wustl.edu	37	6	2785389	2785389	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10A-01A-21D-A10Y-09	TCGA-E2-A10A-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd49ccc5-a776-4307-930c-298ba6cfdf79	bb8f16ce-4126-41ad-8775-9f7322e07420	g.chr6:2785389G>A	ENST00000380773.4	+	7	2080	c.1871G>A	c.(1870-1872)aGg>aAg	p.R624K	WRNIP1_ENST00000380771.4_Missense_Mutation_p.R599K|WRNIP1_ENST00000380769.4_Missense_Mutation_p.R404K|WRNIP1_ENST00000380764.1_Missense_Mutation_p.R240K	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCGCCCACTAGGCTGATGAAG	0.582																																						dbGAP											0													81.0	79.0	80.0					6																	2785389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1871G>A	6.37:g.2785389G>A	ENSP00000370150:p.Arg624Lys			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.R624K	ENST00000380773.4	37	c.1871	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	8.306	0.820975	0.16678	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.39056	1.1;1.16;1.17	5.8	5.8	0.92144	MgsA AAA+ ATPase C-terminal (1);	0.082302	0.85682	D	0.000000	T	0.05640	0.0148	N	0.01202	-0.96	0.42662	D	0.993484	B;B	0.21309	0.054;0.015	B;B	0.20184	0.028;0.023	T	0.33111	-0.9881	10	0.02654	T	1	-32.0347	12.3778	0.55289	0.0761:0.0:0.9239:0.0	.	599;624	Q96S55-2;Q96S55	.;WRIP1_HUMAN	K	624;599;404;240	ENSP00000370150:R624K;ENSP00000370148:R599K;ENSP00000370146:R404K	ENSP00000370141:R240K	R	+	2	0	WRNIP1	2730388	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	3.792000	0.55476	2.741000	0.93983	0.585000	0.79938	AGG	WRNIP1	-	pfam_MgsA_C	ENSG00000124535		0.582	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	44	0.00	0	G	NM_130395		2785389	2785389	+1	no_errors	ENST00000380773	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	1.000	A
