#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_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ATP2B3	492	genome.wustl.edu	37	X	152825264	152825264	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chrX:152825264G>A	ENST00000349466.2	+	17	3029	c.2703G>A	c.(2701-2703)acG>acA	p.T901T	ATP2B3_ENST00000370186.1_Silent_p.T887T|ATP2B3_ENST00000370181.2_Silent_p.T887T|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.T887T|ATP2B3_ENST00000359149.3_Silent_p.T901T|ATP2B3_ENST00000263519.4_Silent_p.T901T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	901					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGCGACGGAGCCACCCA	0.597																																						dbGAP											0			X											84.0	72.0	76.0					X																	152825264		2203	4300	6503	152478458	SO:0001819	synonymous_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2703G>A	X.37:g.152825264G>A		24	0.00	0		NA	NA	NA	152478458	9	76.32	29	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T901	ENST00000349466.2	37	c.2703	CCDS35440.1	X																																																																																			-	HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152478458	+1	no_errors	NM_001001344.1	genbank	human	reviewed	54_36p	silent	SNP	0.019	A
PRAMEF2	65122	genome.wustl.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	rs374389020	byFrequency	TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0.0	0.0	5008	,	,		25327	0.0		0.0	False		,,,				2504	0.0031					dbGAP											1	Substitution - Missense(1)	kidney(1)	1						C	MET/THR	0,4404		0,0,2202	162.0	177.0	172.0		569	-0.9	0.0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	12842416	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met	53	1.85	1		NA	NA	NA	12842416	67	45.53	56		Missense_Mutation	SNP	superfamily_SSF52047	p.T190M	ENST00000240189.2	37	c.569	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG	-	superfamily_SSF52047		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12842416	+1	no_errors	NM_023014.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T
MYOM3	127294	genome.wustl.edu	37	1	24383989	24383989	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:24383989G>A	ENST00000374434.3	-	37	4341	c.4179C>T	c.(4177-4179)acC>acT	p.T1393T	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Silent_p.T1396T|MYOM3_ENST00000338909.5_Silent_p.T286T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1393	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			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)		CCTTCTCAATGGTGATGGTGA	0.557																																						dbGAP											0			1											107.0	107.0	107.0					1																	24383989		2034	4186	6220	24256576	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.4179C>T	1.37:g.24383989G>A		113	4.24	5		NA	NA	NA	24256576	87	42.21	65	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin	p.T1393	ENST00000374434.3	37	c.4179	CCDS41281.1	1																																																																																			-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.557	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24256576	-1	no_errors	NM_152372.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
SLC27A3	11000	genome.wustl.edu	37	1	153751731	153751731	+	Intron	SNP	C	C	T	rs199498642	byFrequency	TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:153751731C>T	ENST00000368661.3	+	8	1950				SLC27A3_ENST00000271857.2_Intron|SLC27A3_ENST00000484014.1_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCACCACCCCGAATTGGTAG	0.602													C|||	4	0.000798722	0.0008	0.0	5008	,	,		18128	0.0		0.002	False		,,,				2504	0.001					dbGAP											0			1						C		0,4406		0,0,2203	81.0	82.0	82.0			-7.7	0.0	1		82	5,8595	4.3+/-15.6	0,5,4295	no	intron	SLC27A3	NM_024330.1		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384			153751731	5,13001	2203	4300	6503	152018355	SO:0001627	intron_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1885+44C>T	1.37:g.153751731C>T		149	5.10	8		3	25.00	1	152018355	82	33.87	42	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Nonsense_Mutation	SNP	superfamily_SSF56801	p.R12*	ENST00000368661.3	37	c.34	CCDS1053.1	1																																																																																			-	NULL		0.602	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	protein_coding		C	NM_024330		152018355	+1	no_errors	ENST00000368659	ensembl	human	known	54_36p	nonsense	SNP	0.000	T
MYOC	4653	genome.wustl.edu	37	1	171605485	171605485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:171605485G>T	ENST00000037502.6	-	3	1166	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	365	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTGTCCGTGGTAGCCAGCTC	0.532																																						dbGAP											0			1											83.0	80.0	81.0					1																	171605485		2203	4300	6503	169872108	SO:0001587	stop_gained	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1095C>A	1.37:g.171605485G>T	ENSP00000037502:p.Tyr365*	111	1.77	2		NA	NA	NA	169872108	128	42.41	95	B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.Y365*	ENST00000037502.6	37	c.1095	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007553	0.75046	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	.	.	.	5.46	5.46	0.80206	.	0.152833	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6957	0.51542	0.0815:0.0:0.9185:0.0	.	.	.	.	X	365;318;298	.	ENSP00000037502:Y365X	Y	-	3	2	MYOC	169872108	1.000000	0.71417	0.999000	0.59377	0.256000	0.26092	6.623000	0.74238	2.719000	0.93026	0.555000	0.69702	TAC	-	HMMPfam_OLF,HMMSmart_SM00284		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	G	NM_000261		169872108	-1	no_errors	NM_000261.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
CLDN18	51208	genome.wustl.edu	37	3	137742541	137742541	+	Missense_Mutation	SNP	G	G	T	rs114998965	byFrequency	TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr3:137742541G>T	ENST00000183605.5	+	2	488	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F	CLDN18_ENST00000343735.4_Missense_Mutation_p.V88F	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	88					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CGTAGGCATCGTCCTGGGTGC	0.542																																						dbGAP											0			3											139.0	108.0	119.0					3																	137742541		2203	4300	6503	139225231	SO:0001583	missense	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.262G>T	3.37:g.137742541G>T	ENSP00000183605:p.Val88Phe	292	0.34	1		NA	NA	NA	139225231	87	50.00	89	A5PL21|Q96PH4	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.V88F	ENST00000183605.5	37	c.262	CCDS3095.1	3	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816352	0.70912	.	.	ENSG00000066405	ENST00000343735;ENST00000183605	D;D	0.89746	-2.56;-2.56	5.6	5.6	0.85130	.	0.072088	0.53938	D	0.000048	D	0.93507	0.7928	L	0.56769	1.78	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.92946	0.6376	10	0.49607	T	0.09	.	19.6202	0.95653	0.0:0.0:1.0:0.0	.	88;88	P56856;P56856-2	CLD18_HUMAN;.	F	88	ENSP00000340939:V88F;ENSP00000183605:V88F	ENSP00000183605:V88F	V	+	1	0	CLDN18	139225231	1.000000	0.71417	0.834000	0.33040	0.720000	0.41350	5.487000	0.66863	2.644000	0.89710	0.655000	0.94253	GTC	-	HMMPfam_PMP22_Claudin		0.542	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	protein_coding	OTTHUMT00000357199.2	G	NM_001002026		139225231	+1	no_errors	NM_001002026.2	genbank	human	validated	54_36p	missense	SNP	0.995	T
TET2	54790	genome.wustl.edu	37	4	106157938	106157938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106157938C>T	ENST00000540549.1	+	3	3699	c.2839C>T	c.(2839-2841)Caa>Taa	p.Q947*	TET2_ENST00000305737.2_Nonsense_Mutation_p.Q947*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q947*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q947*|TET2_ENST00000513237.1_Nonsense_Mutation_p.Q968*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q947*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q947*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	947	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAAGGACACTCAAAAGCATGC	0.493			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											84.0	71.0	75.0					4																	106157938		2203	4300	6503	106377387	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2839C>T	4.37:g.106157938C>T	ENSP00000442788:p.Gln947*	89	7.29	7		22	45.00	18	106377387	70	38.98	46	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.Q947*	ENST00000540549.1	37	c.2839	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	43	9.912823	0.99294	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.79	4.93	0.64822	.	0.414504	0.17744	U	0.163469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	16.042	0.80691	0.1354:0.8646:0.0:0.0	.	.	.	.	X	947;947;947;968;947;947;947	.	ENSP00000265149:Q947X	Q	+	1	0	TET2	106377387	1.000000	0.71417	0.119000	0.21687	0.866000	0.49608	5.673000	0.68109	1.406000	0.46857	0.655000	0.94253	CAA	-	NULL		0.493	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106377387	+1	no_errors	NM_017628.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
TTBK1	84630	genome.wustl.edu	37	6	43230718	43230718	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr6:43230718A>G	ENST00000259750.4	+	13	1699	c.1616A>G	c.(1615-1617)gAc>gGc	p.D539G	TTBK1_ENST00000304139.5_Missense_Mutation_p.D488G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	539					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGGATTTCGACAGCAAAGAG	0.642																																						dbGAP											0			6											91.0	66.0	74.0					6																	43230718		2203	4300	6503	43338696	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1616A>G	6.37:g.43230718A>G	ENSP00000259750:p.Asp539Gly	38	7.32	3		NA	NA	NA	43338696	32	33.33	16	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.D539G	ENST00000259750.4	37	c.1616	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163935	0.78226	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.26373	1.74	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.52573	1.65	0.44937	D	0.997953	D;D	0.69078	0.994;0.997	D;D	0.77004	0.979;0.989	T	0.18398	-1.0338	10	0.87932	D	0	.	13.0834	0.59127	1.0:0.0:0.0:0.0	.	62;539	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	G	488;539;488	ENSP00000259750:D539G	ENSP00000259750:D539G	D	+	2	0	TTBK1	43338696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.085000	0.62840	0.454000	0.30748	GAC	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	A			43338696	+1	no_errors	NM_032538.1	genbank	human	validated	54_36p	missense	SNP	1.000	G
SLC26A3	1811	genome.wustl.edu	37	7	107431676	107431676	+	Silent	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:107431676C>T	ENST00000340010.5	-	5	571	c.387G>A	c.(385-387)ccG>ccA	p.P129P	SLC26A3_ENST00000422236.2_Silent_p.P94P	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	129			P -> L (in DIAR1). {ECO:0000269|PubMed:21394828}.		anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATCGGAAACGGACCTAATT	0.433																																						dbGAP											0			7											175.0	157.0	163.0					7																	107431676		2203	4300	6503	107218912	SO:0001819	synonymous_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.387G>A	7.37:g.107431676C>T		59	6.35	4		NA	NA	NA	107218912	86	42.21	65		Silent	SNP	HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A	p.P129	ENST00000340010.5	37	c.387	CCDS5748.1	7																																																																																			-	NULL		0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107218912	-1	no_errors	NM_000111.2	genbank	human	reviewed	54_36p	silent	SNP	0.919	T
PLXNA4	91584	genome.wustl.edu	37	7	131866295	131866295	+	Missense_Mutation	SNP	C	C	T	rs200749903		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:131866295C>T	ENST00000359827.3	-	18	4299	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1113K			Q9HCM2	PLXA4_HUMAN	plexin A4	1113	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1113K(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCCTCTCGGTCAGGTCT	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16688	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)	7											102.0	105.0	104.0					7																	131866295		1919	4117	6036	131516835	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3337G>A	7.37:g.131866295C>T	ENSP00000352882:p.Glu1113Lys	138	1.43	2		NA	NA	NA	131516835	73	46.72	64	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat	p.E1113K	ENST00000359827.3	37	c.3337	CCDS43646.1	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.1	4.374140	0.82573	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.59083	0.29;0.29	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	N	0.25890	0.77	0.80722	D	1	B	0.27416	0.178	B	0.24394	0.053	T	0.35798	-0.9774	10	0.12766	T	0.61	.	18.8552	0.92249	0.0:1.0:0.0:0.0	.	1113	Q9HCM2	PLXA4_HUMAN	K	1113	ENSP00000323194:E1113K;ENSP00000352882:E1113K	ENSP00000323194:E1113K	E	-	1	0	PLXNA4	131516835	1.000000	0.71417	0.944000	0.38274	0.943000	0.58893	5.986000	0.70563	2.459000	0.83118	0.561000	0.74099	GAG	-	HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	protein_coding	OTTHUMT00000338422.2	C	NM_181775		131516835	-1	no_errors	NM_020911.1	genbank	human	validated	54_36p	missense	SNP	0.997	T
EZH2	2146	genome.wustl.edu	37	7	148506162	148506162	+	Splice_Site	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:148506162C>T	ENST00000460911.1	-	19	2269		c.e19+1		EZH2_ENST00000541220.1_Splice_Site|EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000478654.1_Splice_Site|EZH2_ENST00000320356.2_Splice_Site|EZH2_ENST00000476773.1_Splice_Site			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit						cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACTTTACCAACCTGTAATCAA	0.408			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	7											110.0	101.0	104.0					7																	148506162		2203	4300	6503	148137095	SO:0001630	splice_region_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2180+1G>A	7.37:g.148506162C>T		61	0.00	0		3	76.92	10	148137095	124	44.44	100	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Splice_Site	SNP	-	e18+1	ENST00000460911.1	37	c.2195+1	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.107461	0.94292	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.006	0.92851	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EZH2	148137095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.566000	0.82347	2.481000	0.83766	0.579000	0.79373	.	-	-		0.408	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	C	NM_004456	Intron	148137095	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	rs202180175		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15914	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			8						G	HIS/ARG	1,3703		0,1,1851	187.0	176.0	180.0		1238	3.6	1.0	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	110481706	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	77	1.28	1		NA	NA	NA	110481706	70	36.28	41	Q567P2|Q9UF27	Missense_Mutation	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen	p.R413H	ENST00000378402.5	37	c.1238	CCDS47911.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT	-	HMMSmart_SM00710,HMMSmart_SM00758,superfamily_Anthrax protective antigen		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110481706	+1	no_errors	NM_177531.4	genbank	human	validated	54_36p	missense	SNP	0.999	A
JAK2	3717	genome.wustl.edu	37	9	5073770	5073770	+	Missense_Mutation	SNP	G	G	T	rs77375493		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr9:5073770G>T	ENST00000381652.3	+	14	2343	c.1849G>T	c.(1849-1851)Gtc>Ttc	p.V617F	JAK2_ENST00000539801.1_Missense_Mutation_p.V617F|JAK2_ENST00000544510.1_Missense_Mutation_p.V468F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	617	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> F (in PV, THCYT3 and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity). {ECO:0000269|PubMed:15781101, ECO:0000269|PubMed:15793561, ECO:0000269|PubMed:15858187, ECO:0000269|PubMed:16247455, ECO:0000269|PubMed:16325696, ECO:0000269|PubMed:16603627}.|V -> I (in THCYT3). {ECO:0000269|PubMed:22397670}.		actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.V617F(29950)|p.V617_C618>FR(2)|p.V617I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGGAGTATGTGTCTGTGGAGA	0.343	V617F(HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													dbGAP		Dom	yes		9	9p24	3717	Janus kinase 2		L	29953	Substitution - Missense(29951)|Complex - compound substitution(2)	haematopoietic_and_lymphoid_tissue(29950)|lung(3)	9						G	PHE/VAL	1,4405	2.1+/-5.4	0,1,2202	93.0	103.0	100.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1849	5.5	1.0	9	dbSNP_131	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense	JAK2	NM_004972.3	50	0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231	probably-damaging	617/1133	5073770	3,13003	2203	4300	6503	5063770	SO:0001583	missense	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1849G>T	9.37:g.5073770G>T	ENSP00000371067:p.Val617Phe	79	1.25	1		14	58.82	20	5063770	68	37.04	40	O14636|O75297	Missense_Mutation	SNP	HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550	p.V617F	ENST00000381652.3	37	c.1849	CCDS6457.1	9	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	25.0	4.593706	0.86953	2.27E-4	2.33E-4	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83163	-1.69;-1.69;-1.69	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.65320	2	0.80722	D	1	D	0.67145	0.996	D	0.65323	0.934	D	0.90419	0.4415	10	0.87932	D	0	-11.539	19.4075	0.94653	0.0:0.0:1.0:0.0	.	617	O60674	JAK2_HUMAN	F	617;617;468	ENSP00000440387:V617F;ENSP00000371067:V617F;ENSP00000443103:V468F	ENSP00000371067:V617F	V	+	1	0	JAK2	5063770	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.388000	0.97237	2.583000	0.87209	0.591000	0.81541	GTC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	protein_coding	OTTHUMT00000051609.1	G			5063770	+1	no_errors	NM_004972.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	11	0.00	0		23	25.81	8	25289551	80	14.89	14	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DIS3	22894	genome.wustl.edu	37	13	73345997	73345997	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr13:73345997C>T	ENST00000377767.4	-	11	1641	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K	DIS3_ENST00000377780.4_Missense_Mutation_p.R484K|DIS3_ENST00000545453.1_Missense_Mutation_p.R352K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	514					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)		ATTTCCTGGCCTAATAAAATG	0.343										Multiple Myeloma(4;0.011)																												dbGAP											0			13											97.0	97.0	97.0					13																	73345997		2203	4300	6503	72243998	SO:0001583	missense	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.1541G>A	13.37:g.73345997C>T	ENSP00000366997:p.Arg514Lys	40	11.11	5		19	41.18	14	72243998	94	40.49	66	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.R514K	ENST00000377767.4	37	c.1541	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626354	0.46840	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.32272	1.46;1.46;1.46	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.045583	0.85682	N	0.000000	T	0.24736	0.0600	N	0.11698	0.16	0.80722	D	1	B;B	0.34313	0.448;0.299	B;B	0.43478	0.421;0.405	T	0.01977	-1.1236	10	0.02654	T	1	.	19.9721	0.97287	0.0:1.0:0.0:0.0	.	484;514	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	514;484;352	ENSP00000366997:R514K;ENSP00000367011:R484K;ENSP00000440058:R352K	ENSP00000366997:R514K	R	-	2	0	DIS3	72243998	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.807000	0.62576	2.724000	0.93272	0.462000	0.41574	AGG	-	HMMPfam_RNB		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	C	NM_014953		72243998	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	0.986	T
MYH4	4622	genome.wustl.edu	37	17	10355546	10355546	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr17:10355546G>A	ENST00000255381.2	-	27	3560	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1150					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCTCACTGATCTCCTCCA	0.612																																						dbGAP											0			17											78.0	87.0	84.0					17																	10355546		2203	4300	6503	10296271	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3450C>T	17.37:g.10355546G>A		61	6.15	4		NA	NA	NA	10296271	60	32.61	30		Silent	SNP	HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540	p.I1150	ENST00000255381.2	37	c.3450	CCDS11154.1	17																																																																																			-	HMMPfam_Myosin_tail_1		0.612	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10296271	-1	no_errors	NM_017533.2	genbank	human	validated	54_36p	silent	SNP	1.000	A
PSG9	5678	genome.wustl.edu	37	19	43772024	43772024	+	Silent	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr19:43772024C>T	ENST00000270077.3	-	2	438	c.342G>A	c.(340-342)cgG>cgA	p.R114R	PSG9_ENST00000244293.7_Silent_p.R114R|PSG9_ENST00000418820.2_Silent_p.R114R|PSG9_ENST00000596730.1_Silent_p.R114R|PSG9_ENST00000593948.1_Silent_p.R114R|PSG9_ENST00000443718.3_Silent_p.R114R|PSG9_ENST00000291752.5_Silent_p.R114R	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGCATCCTTCCGGGTGACAT	0.418																																						dbGAP											0			19											286.0	260.0	269.0					19																	43772024		2203	4300	6503	48463864	SO:0001819	synonymous_variant	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.342G>A	19.37:g.43772024C>T		276	1.08	3		NA	NA	NA	48463864	122	48.31	114	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.R114	ENST00000270077.3	37	c.342	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	c	1.983	-0.433627	0.04669	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.56	-0.88	0.10610	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	.	4.2525	0.10702	0.0:0.5832:0.0:0.4168	.	.	.	.	E	101	.	.	G	-	2	0	PSG9	48463864	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.868000	0.04236	-0.166000	0.10890	-0.708000	0.03648	GGA	-	HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.418	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	protein_coding	OTTHUMT00000323065.1	C	NM_002784		48463864	-1	no_errors	NM_002784.3	genbank	human	validated	54_36p	silent	SNP	0.015	T
RUNX1	861	genome.wustl.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(10)|lung(2)	21	GRCh37	CM013280	RUNX1	M							295.0	258.0	270.0					21																	36231792		2203	4300	6503	35153662	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.511G>A	21.37:g.36231792C>T	ENSP00000340690:p.Asp171Asn	98	1.01	1		359	66.20	705	35153662	61	60.62	97	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.D198N	ENST00000344691.4	37	c.592	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.254153	0.95336	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.12	5.12	0.69794	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.91300	3.195	0.80722	D	1	D;D;D;P;P;D;D	0.76494	0.985;0.999;0.968;0.826;0.653;0.998;0.996	D;D;D;P;P;D;D	0.85130	0.934;0.997;0.964;0.748;0.48;0.934;0.995	D	0.97190	0.9857	10	0.87932	D	0	-14.8335	16.0721	0.80941	0.0:1.0:0.0:0.0	.	198;171;171;174;198;186;171	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	N	171;198;198;186;171;174;171;186;174	ENSP00000340690:D171N;ENSP00000300305:D198N;ENSP00000409227:D198N;ENSP00000319459:D186N;ENSP00000382184:D171N;ENSP00000351123:D171N;ENSP00000382182:D186N;ENSP00000438019:D174N	ENSP00000300305:D198N	D	-	1	0	RUNX1	35153662	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	GAT	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.557	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35153662	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RUNX1	861	genome.wustl.edu	37	21	36252940	36252940	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr21:36252940G>A	ENST00000344691.4	-	2	1918	c.341C>T	c.(340-342)tCg>tTg	p.S114L	RUNX1_ENST00000437180.1_Missense_Mutation_p.S141L|RUNX1_ENST00000399240.1_Missense_Mutation_p.S114L|RUNX1_ENST00000486278.2_Missense_Mutation_p.S117L|RUNX1_ENST00000325074.5_Missense_Mutation_p.S129L|RUNX1_ENST00000300305.3_Missense_Mutation_p.S141L|RUNX1_ENST00000358356.5_Missense_Mutation_p.S114L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	114	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S141*(2)|p.S141fs*4(1)|p.A142fs*3(1)|p.S141L(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CAGCTCAGCCGAGTAGTTTTC	0.498			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	5	Substitution - Nonsense(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(5)	21											120.0	103.0	109.0					21																	36252940		2203	4300	6503	35174810	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.341C>T	21.37:g.36252940G>A	ENSP00000340690:p.Ser114Leu	34	2.86	1		712	31.41	326	35174810	62	25.88	22	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.S141L	ENST00000344691.4	37	c.422	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996069	0.74703	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99483	0.9816	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.989;0.984;0.998;0.937;0.975	D	0.98908	1.0779	10	0.87932	D	0	-16.5475	19.3355	0.94316	0.0:0.0:1.0:0.0	.	141;114;114;117;141;129;114	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	L	114;141;141;129;114;117;114;129;117;128	ENSP00000340690:S114L;ENSP00000300305:S141L;ENSP00000409227:S141L;ENSP00000319459:S129L;ENSP00000382184:S114L;ENSP00000351123:S114L;ENSP00000382182:S129L;ENSP00000438019:S117L;ENSP00000388189:S128L	ENSP00000300305:S141L	S	-	2	0	RUNX1	35174810	1.000000	0.71417	0.971000	0.41717	0.561000	0.35649	9.355000	0.97087	2.652000	0.90054	0.655000	0.94253	TCG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.498	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35174810	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CACNG2	10369	genome.wustl.edu	37	22	37098453	37098453	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr22:37098453C>T	ENST00000300105.6	-	1	1150	c.169G>A	c.(169-171)Gtt>Att	p.V57I	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	57					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGGTCATAACTTCCTCGTTC	0.522																																						dbGAP											0			22											242.0	199.0	214.0					22																	37098453		2203	4300	6503	35428399	SO:0001583	missense	0			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.169G>A	22.37:g.37098453C>T	ENSP00000300105:p.Val57Ile	316	1.25	4		NA	NA	NA	35428399	48	42.86	36	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin	p.V57I	ENST00000300105.6	37	c.169	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	c	5.636	0.302103	0.10678	.	.	ENSG00000166862	ENST00000300105	D	0.89123	-2.47	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000003	D	0.86843	0.6030	M	0.61703	1.905	0.52501	D	0.999955	P	0.43024	0.798	B	0.41466	0.358	D	0.85080	0.0945	10	0.10377	T	0.69	-5.2575	16.9822	0.86331	0.0:1.0:0.0:0.0	.	57	Q9Y698	CCG2_HUMAN	I	57	ENSP00000300105:V57I	ENSP00000300105:V57I	V	-	1	0	CACNG2	35428399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.284000	0.78650	2.050000	0.60909	0.546000	0.68486	GTT	-	HMMPfam_PMP22_Claudin		0.522	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	protein_coding	OTTHUMT00000075500.2	C			35428399	-1	no_errors	NM_006078.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TET2	54790	genome.wustl.edu	37	4	106193801	106193802	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	-	-	-	AT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106193801_106193802insAT	ENST00000540549.1	+	10	5123_5124	c.4263_4264insAT	c.(4264-4266)aaafs	p.K1422fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Ins_p.K1443fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.K1422fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1422					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1420fs*26(2)|p.Y1421fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCCTTTATACAAAGTCTCTGA	0.465			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Deletion - Frameshift(2)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	4																																								106413251	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	Exception_encountered	4.37:g.106193801_106193802insAT	ENSP00000442788:p.Lys1422fs	47	0.00	0		27	25.00	9	106413250	129	32.46	62	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.K223fs	ENST00000540549.1	37	c.669_670	CCDS47120.1	4																																																																																			-	NULL		0.465	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106413251	+1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	AT
TET2	54790	genome.wustl.edu	37	4	106193802	106193803	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106193802_106193803insTA	ENST00000540549.1	+	10	5124_5125	c.4264_4265insTA	c.(4264-4266)aaafs	p.K1422fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Ins_p.K1443fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.K1422fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1422					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1420fs*26(2)|p.Y1421fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCTTTATACAAAGTCTCTGAC	0.47			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Deletion - Frameshift(2)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	4																																								106413252	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	Exception_encountered	4.37:g.106193802_106193803insTA	ENSP00000442788:p.Lys1422fs	48	0.00	0		37	0.00	0	106413251	191	0.00	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.K224fs	ENST00000540549.1	37	c.670_671	CCDS47120.1	4																																																																																			-	NULL		0.470	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106413252	+1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	TA
