#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANGPT1	284	genome.wustl.edu	37	8	108297075	108297075	+	Splice_Site	SNP	C	C	A			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr8:108297075C>A	ENST00000520734.1	-	6	725	c.440G>T	c.(439-441)gGt>gTt	p.G147V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Splice_Site_p.G146V			Q15389	ANGP1_HUMAN	angiopoietin 1	347					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.G347V(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTTCCAAAACCCTGGGAAAC	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	49.0	49.0					8																	108297075		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.439-1G>T	8.37:g.108297075C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G347V	ENST00000520734.1	37	c.1040		8	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006642	0.93287	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	H	0.99650	4.68	0.80722	D	1	P;D;D	0.61697	0.939;0.99;0.99	P;D;D	0.66497	0.8;0.944;0.944	D	0.94464	0.7679	10	0.87932	D	0	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	146;347;347	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	V	347;346;147;146	ENSP00000428340:G347V;ENSP00000297450:G346V;ENSP00000430750:G147V;ENSP00000429349:G146V	ENSP00000297450:G346V	G	-	2	0	ANGPT1	108366251	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.709000	0.92574	0.650000	0.86243	GGT	ANGPT1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000154188		0.338	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	102	0.00	0	C	NM_001146, NM_139290	Missense_Mutation	108297075	108297075	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	missense	80	29.57	34	SNP	1.000	A
ANKRD32	84250	genome.wustl.edu	37	5	94027917	94027917	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr5:94027917C>T	ENST00000265140.5	+	20	3070	c.2651C>T	c.(2650-2652)tCa>tTa	p.S884L	ANKRD32_ENST00000493934.1_3'UTR	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	884						centrosome (GO:0005813)|nucleus (GO:0005634)		p.S248L(1)|p.S884L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GATGCACTGTCAAACGGACAT	0.438																																						dbGAP											2	Substitution - Missense(2)	breast(2)											131.0	118.0	122.0					5																	94027917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2651C>T	5.37:g.94027917C>T	ENSP00000265140:p.Ser884Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S884L	ENST00000265140.5	37	c.2651	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092849	0.20471	.	.	ENSG00000133302	ENST00000265140	T	0.62639	0.01	5.45	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.252240	0.35262	N	0.003332	T	0.43299	0.1241	N	0.16656	0.425	0.35456	D	0.796097	B	0.29232	0.238	B	0.29267	0.1	T	0.50642	-0.8804	10	0.22109	T	0.4	.	10.6594	0.45694	0.0:0.8531:0.0:0.1469	.	884	Q9BQI6	ANR32_HUMAN	L	884	ENSP00000265140:S884L	ENSP00000265140:S884L	S	+	2	0	ANKRD32	94053673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	1.441000	0.47550	0.650000	0.86243	TCA	ANKRD32	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000133302		0.438	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	79	0.00	0	C	NM_032290		94027917	94027917	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	missense	71	34.86	38	SNP	1.000	T
C4orf29	80167	genome.wustl.edu	37	4	128951784	128951784	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr4:128951784G>C	ENST00000444616.1	+	11	1445	c.1198G>C	c.(1198-1200)Ggg>Cgg	p.G400R	C4orf29_ENST00000398965.1_Missense_Mutation_p.G400R|C4orf29_ENST00000388795.5_Missense_Mutation_p.G352R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	400						extracellular region (GO:0005576)		p.G400R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATACTTAGAAGGGGGTCATAT	0.378																																						dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	87.0	87.0					4																	128951784		1831	4086	5917	-	-	-	SO:0001583	missense	0			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.1198G>C	4.37:g.128951784G>C	ENSP00000397229:p.Gly400Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.G400R	ENST00000444616.1	37	c.1198		4	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948015	0.92593	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.959;0.998	T	0.83138	-0.0110	9	0.72032	D	0.01	-17.4275	18.3204	0.90236	0.0:0.0:1.0:0.0	.	352;400	B7WP89;Q0P651	.;CD029_HUMAN	R	400;231;400;400;352;318;307	.	ENSP00000373447:G352R	G	+	1	0	C4orf29	129171234	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.151000	0.94674	2.342000	0.79632	0.655000	0.94253	GGG	C4orf29	-	pfam_DUF2048	ENSG00000164074		0.378	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	99	0.00	0	G	NM_001039717		128951784	128951784	+1	no_errors	ENST00000398965	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	C
CKAP2L	150468	genome.wustl.edu	37	2	113514535	113514535	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr2:113514535G>T	ENST00000302450.6	-	4	491	c.413C>A	c.(412-414)cCt>cAt	p.P138H	CKAP2L_ENST00000541405.1_De_novo_Start_OutOfFrame|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	138						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P138H(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACCCCACAGGTTTTCTTGA	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	106.0	103.0					2																	113514535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.413C>A	2.37:g.113514535G>T	ENSP00000305204:p.Pro138His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.P138H	ENST00000302450.6	37	c.413	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751444	0.31046	.	.	ENSG00000169607	ENST00000302450	T	0.07444	3.19	4.88	2.1	0.27182	.	0.578320	0.17281	N	0.179989	T	0.12092	0.0294	L	0.43152	1.355	0.18873	N	0.999987	D	0.53885	0.963	P	0.52267	0.694	T	0.09250	-1.0683	10	0.62326	D	0.03	-0.0025	7.54	0.27733	0.2812:0.0:0.7188:0.0	.	138	Q8IYA6	CKP2L_HUMAN	H	138	ENSP00000305204:P138H	ENSP00000305204:P138H	P	-	2	0	CKAP2L	113231006	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.928000	0.28831	0.327000	0.23409	-0.224000	0.12420	CCT	CKAP2L	-	NULL	ENSG00000169607		0.373	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	174	0.00	0	G	NM_152515		113514535	113514535	-1	no_errors	ENST00000302450	ensembl	human	known	69_37n	missense	128	37.25	76	SNP	0.017	T
DIAPH1	1729	genome.wustl.edu	37	5	140903779	140903787	+	In_Frame_Del	DEL	CACCTGTCT	CACCTGTCT	-			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	CACCTGTCT	CACCTGTCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr5:140903779_140903787delCACCTGTCT	ENST00000398557.4	-	27	3724_3732	c.3584_3592delAGACAGGTG	c.(3583-3594)gagacaggtgtg>gtg	p.ETG1195del	DIAPH1_ENST00000520569.1_In_Frame_Del_p.ETG1138del|DIAPH1_ENST00000389054.3_In_Frame_Del_p.ETG1192del|DIAPH1_ENST00000398562.2_In_Frame_Del_p.ETG1171del|DIAPH1_ENST00000389057.5_In_Frame_Del_p.ETG1186del|DIAPH1_ENST00000518047.1_In_Frame_Del_p.ETG1183del|DIAPH1_ENST00000253811.6_In_Frame_Del_p.ETG1196del|DIAPH1_ENST00000398566.3_In_Frame_Del_p.ETG1187del	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1195	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.V1198L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCATCACACCTGTCTCATCGCCCTC	0.507																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001651	inframe_deletion	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3584_3592delAGACAGGTG	5.37:g.140903779_140903787delCACCTGTCT	ENSP00000381565:p.Glu1195_Gly1197del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	In_Frame_Del	DEL	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.ETG1196in_frame_del	ENST00000398557.4	37	c.3595_3587	CCDS43374.1	5																																																																																			DIAPH1	-	smart_Actin-bd_FH2/DRF_autoreg	ENSG00000131504		0.507	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		64	0.00	0	CACCTGTCT	NM_005219		140903779	140903787	-1	no_errors	ENST00000253811	ensembl	human	known	69_37n	in_frame_del	60	23.08	18	DEL	1.000:0.994:1.000:1.000:0.164:1.000:1.000:1.000:1.000	-
FAAH	2166	genome.wustl.edu	37	1	46872015	46872015	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr1:46872015T>C	ENST00000243167.8	+	7	1010	c.926T>C	c.(925-927)gTg>gCg	p.V309A	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	309					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.V309A(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GACCCCACTGTGCCTCCCTTG	0.657											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	71.0	72.0					1																	46872015		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.926T>C	1.37:g.46872015T>C	ENSP00000243167:p.Val309Ala	Somatic	942	WXS	Illumina GAIIx	Phase_IV	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.V309A	ENST00000243167.8	37	c.926	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437324	0.62955	.	.	ENSG00000117480	ENST00000243167	T	0.55930	0.49	5.15	5.15	0.70609	Amidase signature domain (2);	0.467396	0.20663	N	0.087995	T	0.56156	0.1966	L	0.46885	1.475	0.40555	D	0.98115	B	0.22683	0.073	B	0.39185	0.293	T	0.58132	-0.7690	10	0.51188	T	0.08	-20.1526	14.9929	0.71401	0.0:0.0:0.0:1.0	.	309	O00519	FAAH1_HUMAN	A	309	ENSP00000243167:V309A	ENSP00000243167:V309A	V	+	2	0	FAAH	46644602	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	8.040000	0.89188	1.943000	0.56356	0.533000	0.62120	GTG	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	ENSG00000117480		0.657	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	36	0.00	0	T	NM_001441		46872015	46872015	+1	no_errors	ENST00000243167	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	1.000	C
FGF13	2258	genome.wustl.edu	37	X	137793117	137793117	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chrX:137793117G>T	ENST00000315930.6	-	1	710	c.49C>A	c.(49-51)Cgc>Agc	p.R17S	FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000305414.4_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000541469.1_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	17	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.R17S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCGCGCTCGCGGGCTTGCCTC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	90.0	91.0					X																	137793117		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.49C>A	X.37:g.137793117G>T	ENSP00000322390:p.Arg17Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.R17S	ENST00000315930.6	37	c.49	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576717	0.45902	.	.	ENSG00000129682	ENST00000315930	T	0.80738	-1.41	4.5	4.5	0.54988	.	.	.	.	.	T	0.77329	0.4114	L	0.57536	1.79	0.80722	D	1	B	0.10296	0.003	B	0.19391	0.025	T	0.76244	-0.3030	9	0.72032	D	0.01	.	11.4945	0.50400	0.0:0.0:0.8077:0.1923	.	17	Q92913	FGF13_HUMAN	S	17	ENSP00000322390:R17S	ENSP00000322390:R17S	R	-	1	0	FGF13	137620783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.448000	0.52943	1.986000	0.57962	0.529000	0.55759	CGC	FGF13	-	NULL	ENSG00000129682		0.597	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	HGNC	protein_coding	OTTHUMT00000058534.2	94	0.00	0	G	NM_004114		137793117	137793117	-1	no_errors	ENST00000315930	ensembl	human	known	69_37n	missense	109	35.50	60	SNP	1.000	T
GREM1	26585	genome.wustl.edu	37	15	33023223	33023223	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr15:33023223G>C	ENST00000300177.4	+	2	521	c.332G>C	c.(331-333)cGc>cCc	p.R111P	GREM1_ENST00000560830.1_Missense_Mutation_p.R70P|GREM1_ENST00000322805.4_Missense_Mutation_p.R70P|GREM1_ENST00000560677.1_3'UTR	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	111	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R111P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TGCAACAGTCGCACCATCATC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	67.0	74.0					15																	33023223		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.332G>C	15.37:g.33023223G>C	ENSP00000300177:p.Arg111Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	pfam_DAN,smart_Cys_knot_C,pirsf_Gremlin_precursor	p.R111P	ENST00000300177.4	37	c.332	CCDS10029.1	15	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416622	0.83449	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.32023	1.47;1.47	5.57	5.57	0.84162	DAN (1);Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.84585	2.705	0.80722	D	1	D;D;D	0.62365	0.976;0.991;0.965	P;D;P	0.65010	0.838;0.931;0.858	T	0.56842	-0.7912	10	0.35671	T	0.21	-19.1139	13.7944	0.63162	0.073:0.0:0.927:0.0	.	70;111;41	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	P	111;70	ENSP00000300177:R111P;ENSP00000323101:R70P	ENSP00000300177:R111P	R	+	2	0	GREM1	30810515	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.774000	0.68906	2.640000	0.89533	0.655000	0.94253	CGC	GREM1	-	pfam_DAN,smart_Cys_knot_C,pirsf_Gremlin_precursor	ENSG00000166923		0.557	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM1	HGNC	protein_coding	OTTHUMT00000251455.2	23	0.00	0	G	NM_013372		33023223	33023223	+1	no_errors	ENST00000300177	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	1.000	C
MATN2	4147	genome.wustl.edu	37	8	98900392	98900392	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr8:98900392G>A	ENST00000520016.1	+	1	188	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MATN2_ENST00000254898.5_Missense_Mutation_p.E22K|MATN2_ENST00000524308.1_Missense_Mutation_p.E22K|MATN2_ENST00000521689.1_Missense_Mutation_p.E22K|MATN2_ENST00000522025.2_Intron			O00339	MATN2_HUMAN	matrilin 2	22						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E22K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTCCCTGCCGAGGCCAGGGA	0.627																																						dbGAP											2	Substitution - Missense(2)	breast(2)											33.0	34.0	33.0					8																	98900392		1972	4171	6143	-	-	-	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.64G>A	8.37:g.98900392G>A	ENSP00000430487:p.Glu22Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E22K	ENST00000520016.1	37	c.64	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719276	0.30503	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;T;D;T	0.82711	-1.61;-0.76;-1.64;-0.73	5.02	5.02	0.67125	.	0.506948	0.16665	N	0.204624	T	0.62829	0.2460	N	0.08118	0	0.09310	N	1	P;B;B	0.35433	0.501;0.185;0.185	B;B;B	0.22152	0.038;0.012;0.012	T	0.52056	-0.8626	10	0.16896	T	0.51	-4.3846	13.7179	0.62710	0.0:0.0:1.0:0.0	.	22;22;22	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	K	22	ENSP00000429977:E22K;ENSP00000254898:E22K;ENSP00000430221:E22K;ENSP00000430487:E22K	ENSP00000254898:E22K	E	+	1	0	MATN2	98969568	0.534000	0.26362	0.038000	0.18304	0.010000	0.07245	1.735000	0.38176	2.602000	0.87976	0.655000	0.94253	GAG	MATN2	-	NULL	ENSG00000132561		0.627	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	29	0.00	0	G			98900392	98900392	+1	no_errors	ENST00000254898	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.387	A
MYO18B	84700	genome.wustl.edu	37	22	26291174	26291174	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr22:26291174T>A	ENST00000407587.2	+	28	4767	c.4598T>A	c.(4597-4599)cTc>cAc	p.L1533H	CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.L1532H|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1532H|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1532	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1533H(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACGAGTTCCTCAGAAAGCGT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											39.0	44.0	43.0					22																	26291174		2157	4269	6426	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4598T>A	22.37:g.26291174T>A	ENSP00000386096:p.Leu1533His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1532H	ENST00000407587.2	37	c.4595		22	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104158	0.76983	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89552	-2.53;-2.53;-1.53	5.26	5.26	0.73747	.	0.097761	0.43747	D	0.000535	D	0.93203	0.7835	M	0.67953	2.075	0.32994	D	0.525355	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.998	D	0.95400	0.8489	10	0.72032	D	0.01	.	13.1274	0.59363	0.0:0.0:0.0:1.0	.	1045;1532;1533;1532	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	1532;1532;1533	ENSP00000441229:L1532H;ENSP00000334563:L1532H;ENSP00000386096:L1533H	ENSP00000334563:L1532H	L	+	2	0	MYO18B	24621174	0.997000	0.39634	0.965000	0.40720	0.990000	0.78478	3.317000	0.51968	2.000000	0.58554	0.460000	0.39030	CTC	MYO18B	-	NULL	ENSG00000133454		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	37	0.00	0	T	NM_032608		26291174	26291174	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	30	47.37	27	SNP	0.993	A
MYOM3	127294	genome.wustl.edu	37	1	24409111	24409111	+	Silent	SNP	G	G	A			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr1:24409111G>A	ENST00000374434.3	-	17	2226	c.2064C>T	c.(2062-2064)acC>acT	p.T688T	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.T688T|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Silent_p.T689T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	688	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.T688T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGATGGGCTCGGTGGCGGCTG	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											41.0	48.0	46.0					1																	24409111		2073	4189	6262	-	-	-	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2064C>T	1.37:g.24409111G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T689	ENST00000374434.3	37	c.2067	CCDS41281.1	1																																																																																			MYOM3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	25	0.00	0	G	NM_152372		24409111	24409111	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	silent	39	25.00	13	SNP	0.020	A
NCOR1	9611	genome.wustl.edu	37	17	15984026	15984027	+	Frame_Shift_Ins	INS	-	-	AGGC			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr17:15984026_15984027insAGGC	ENST00000268712.3	-	24	3449_3450	c.3192_3193insGCCT	c.(3190-3195)acttatfs	p.Y1065fs	NCOR1_ENST00000395857.3_5'Flank|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.Y1081fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1065	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Y1065fs*7(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGTCAAATAAGTGCCTGGTG	0.391																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3192_3193insGCCT	17.37:g.15984026_15984027insAGGC	ENSP00000268712:p.Tyr1065fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Y1064fs	ENST00000268712.3	37	c.3193_3192	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.391	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	152	0.00	0	-	NM_006311		15984026	15984027	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	frame_shift_ins	68	41.38	48	INS	0.999:0.529	AGGC
NKAP	79576	genome.wustl.edu	37	X	119077497	119077497	+	Silent	SNP	C	C	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chrX:119077497C>T	ENST00000371410.3	-	1	238	c.72G>A	c.(70-72)tcG>tcA	p.S24S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	24	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.S24S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GACTCTTCGACGAACTGCGAC	0.711																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											23.0	26.0	25.0					X																	119077497		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.72G>A	X.37:g.119077497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	pfam_DUF926	p.S24	ENST00000371410.3	37	c.72	CCDS14592.1	X																																																																																			NKAP	-	NULL	ENSG00000101882		0.711	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	24	0.00	0	C	NM_024528		119077497	119077497	-1	no_errors	ENST00000371410	ensembl	human	known	69_37n	silent	23	36.11	13	SNP	0.001	T
OR4F6	390648	genome.wustl.edu	37	15	102346617	102346617	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr15:102346617G>T	ENST00000328882.4	+	1	716	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232V(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTTCAGGTGGTATATTCAAG	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											153.0	151.0	151.0					15																	102346617		2202	4300	6502	-	-	-	SO:0001583	missense	0			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.695G>T	15.37:g.102346617G>T	ENSP00000327525:p.Gly232Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G232V	ENST00000328882.4	37	c.695	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	4.202	0.036161	0.08148	.	.	ENSG00000184140	ENST00000328882	T	0.00299	8.22	4.78	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.377447	0.21994	N	0.066102	T	0.00440	0.0014	M	0.93763	3.455	0.09310	N	0.999999	B	0.22003	0.063	B	0.32724	0.151	T	0.24870	-1.0148	10	0.72032	D	0.01	.	7.4645	0.27314	0.0931:0.0:0.7404:0.1665	.	232	Q8NGB9	OR4F6_HUMAN	V	232	ENSP00000327525:G232V	ENSP00000327525:G232V	G	+	2	0	OR4F6	100164140	0.007000	0.16637	0.008000	0.14137	0.063000	0.16089	0.538000	0.23160	1.369000	0.46134	0.591000	0.81541	GGT	OR4F6	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184140		0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	255	0.00	0	G			102346617	102346617	+1	no_errors	ENST00000328882	ensembl	human	known	69_37n	missense	181	34.89	97	SNP	0.002	T
PPARG	5468	genome.wustl.edu	37	3	12447485	12447485	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr3:12447485C>G	ENST00000287820.6	+	5	845	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	PPARG_ENST00000397026.2_Missense_Mutation_p.L220V|PPARG_ENST00000397015.2_Missense_Mutation_p.L214V|PPARG_ENST00000397010.2_Missense_Mutation_p.L214V|PPARG_ENST00000539812.1_Missense_Mutation_p.L212V|PPARG_ENST00000397000.1_Missense_Mutation_p.L214V|PPARG_ENST00000309576.6_Missense_Mutation_p.L214V|PPARG_ENST00000397012.2_Missense_Mutation_p.L214V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	242	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L242V(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCTCCGGGCCCTGGCAAAACA	0.527			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															dbGAP		Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	1	Substitution - Missense(1)	breast(1)											69.0	70.0	70.0					3																	12447485		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.724C>G	3.37:g.12447485C>G	ENSP00000287820:p.Leu242Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L242V	ENST00000287820.6	37	c.724	CCDS2609.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254495	0.80135	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;D;D;T	0.91407	-0.63;-0.63;-0.63;-0.63;-0.63;-2.84;-2.84;-0.63	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.302249	0.32533	N	0.005977	D	0.96128	0.8738	M	0.87758	2.905	0.58432	D	0.999994	D;P;D	0.71674	0.998;0.791;0.998	D;P;D	0.77557	0.99;0.476;0.99	D	0.95686	0.8736	10	0.54805	T	0.06	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	242;228;214	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	214;214;214;214;220;214;212;242	ENSP00000380205:L214V;ENSP00000312472:L214V;ENSP00000380210:L214V;ENSP00000380207:L214V;ENSP00000380221:L220V;ENSP00000380196:L214V;ENSP00000438940:L212V;ENSP00000287820:L242V	ENSP00000287820:L242V	L	+	1	2	PPARG	12422485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.553000	0.67287	2.741000	0.93983	0.650000	0.86243	CTG	PPARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt	ENSG00000132170		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	70	0.00	0	C	NM_005037		12447485	12447485	+1	no_errors	ENST00000287820	ensembl	human	known	69_37n	missense	63	30.77	28	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	134	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	87	31.25	40	SNP	1.000	A
TNRC6B	23112	genome.wustl.edu	37	22	40661511	40661511	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr22:40661511G>T	ENST00000454349.2	+	5	1488	c.1277G>T	c.(1276-1278)gGt>gTt	p.G426V	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G426V|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	426	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGATCTTGGGGTGCAGCTAGG	0.522																																						dbGAP											0													57.0	56.0	56.0					22																	40661511		1878	4113	5991	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1277G>T	22.37:g.40661511G>T	ENSP00000401946:p.Gly426Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G426V	ENST00000454349.2	37	c.1277	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438826|2.438826	0.43326|0.43326	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.54071|.	0.59;0.59|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70718|0.70718	0.3256|0.3256	L|L	0.49778|0.49778	1.585|1.585	0.58432|0.58432	D|D	0.999997|0.999997	D;B;D|.	0.89917|.	1.0;0.023;0.969|.	D;B;P|.	0.85130|.	0.997;0.043;0.725|.	T|T	0.66650|0.66650	-0.5870|-0.5870	10|5	0.87932|.	D|.	0|.	-1.992|-1.992	19.474|19.474	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;426;426|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|L	426|169	ENSP00000401946:G426V;ENSP00000338371:G426V|.	ENSP00000338371:G426V|.	G|V	+|+	2|1	0|0	TNRC6B|TNRC6B	38991457|38991457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.894000|3.894000	0.56250|0.56250	2.601000|2.601000	0.87937|0.87937	0.650000|0.650000	0.86243|0.86243	GGT|GTG	TNRC6B	-	NULL	ENSG00000100354		0.522	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		77	0.00	0	G			40661511	40661511	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	73	27.72	28	SNP	1.000	T
ZNF90	7643	genome.wustl.edu	37	19	20228851	20228855	+	Frame_Shift_Del	DEL	ATAAG	ATAAG	-	rs554066476		TCGA-A2-A0YC-01A-11D-A117-09	TCGA-A2-A0YC-10A-01D-A10G-09	ATAAG	ATAAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cccf7dc-7c53-409f-a6b1-f86e0f07250b	57b5183f-1ef3-4f14-981e-2ecf416c387f	g.chr19:20228851_20228855delATAAG	ENST00000418063.2	+	4	600_604	c.488_492delATAAG	c.(487-492)cataagfs	p.HK163fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	163					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I165fs*26(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						TCAAACAGACATAAGATAAGAGATA	0.337																																						dbGAP											2	Deletion - Frameshift(2)	breast(2)								20,4064		8,4,2030						-2.2	0.1			40	19,8155		9,1,4077	no	frameshift	ZNF90	NM_007138.1		17,5,6107	A1A1,A1R,RR		0.2324,0.4897,0.3182				39,12219				-	-	-	SO:0001589	frameshift_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.488_492delATAAG	19.37:g.20228856_20228860delATAAG	ENSP00000410466:p.His163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH87	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I165fs	ENST00000418063.2	37	c.488_492	CCDS46028.1	19																																																																																			ZNF90	-	NULL	ENSG00000213988		0.337	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	112	0.00	0	ATAAG	NM_007138		20228851	20228855	+1	no_errors	ENST00000418063	ensembl	human	known	69_37n	frame_shift_del	91	22.69	27	DEL	0.010:0.012:0.000:0.000:0.002	-
