#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CASZ1	54897	genome.wustl.edu	37	1	10715798	10715798	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr1:10715798C>T	ENST00000377022.3	-	9	1890	c.1573G>A	c.(1573-1575)Ggc>Agc	p.G525S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.G525S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	525					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCATGAAGCCGTGCTGCAGG	0.602																																						dbGAP											0			1											241.0	175.0	198.0					1																	10715798		2203	4300	6503	10638385	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1573G>A	1.37:g.10715798C>T	ENSP00000366221:p.Gly525Ser	Somatic	30	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	10638385	67	40.18	45	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.G525S	ENST00000377022.3	37	c.1573	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.557285	0.96514	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.80327	-0.1429	9	0.72032	D	0.01	-30.2106	17.9435	0.89032	0.0:1.0:0.0:0.0	.	549;525;525	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	S	525	.	ENSP00000339445:G525S	G	-	1	0	CASZ1	10638385	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	7.324000	0.79115	2.409000	0.81822	0.561000	0.74099	GGC	-	NULL		0.602	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	C	NM_017766		10638385	-1	no_errors	NM_001079843.1	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC6A9	6536	genome.wustl.edu	37	1	44468623	44468623	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr1:44468623T>A	ENST00000360584.2	-	6	1035	c.844A>T	c.(844-846)Aac>Tac	p.N282Y	SLC6A9_ENST00000475075.2_Missense_Mutation_p.N98Y|SLC6A9_ENST00000372310.3_Missense_Mutation_p.N209Y|SLC6A9_ENST00000372306.3_Missense_Mutation_p.N209Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.N228Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.N144Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.N144Y	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	282					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCCAAAGTTCCCAATGTCA	0.612																																						dbGAP											0			1											126.0	133.0	130.0					1																	44468623		2203	4300	6503	44241210	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.844A>T	1.37:g.44468623T>A	ENSP00000353791:p.Asn282Tyr	Somatic	67	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	44241210	68	36.61	41	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.N282Y	ENST00000360584.2	37	c.844	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992085	0.35131	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.99	2.57	0.30868	.	0.229790	0.50627	D	0.000106	T	0.74145	0.3678	L	0.38649	1.16	0.58432	D	0.999997	D;B;B;B;B;D	0.71674	0.996;0.166;0.129;0.036;0.065;0.998	D;B;B;B;B;D	0.71414	0.936;0.209;0.091;0.026;0.026;0.973	T	0.68262	-0.5455	10	0.30854	T	0.27	.	5.5819	0.17254	0.0:0.1486:0.1452:0.7062	.	213;209;144;209;228;282	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	Y	144;209;209;98;282;228;144	ENSP00000361381:N144Y;ENSP00000361380:N209Y;ENSP00000361384:N209Y;ENSP00000434460:N98Y;ENSP00000353791:N282Y;ENSP00000350362:N228Y;ENSP00000442523:N144Y	ENSP00000350362:N228Y	N	-	1	0	SLC6A9	44241210	0.935000	0.31712	0.986000	0.45419	0.785000	0.44390	1.062000	0.30555	0.346000	0.23899	0.460000	0.39030	AAC	-	HMMPfam_SNF		0.612	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	protein_coding	OTTHUMT00000022825.2	T	NM_201649		44241210	-1	no_errors	NM_201649.1	genbank	human	validated	54_36p	missense	SNP	0.955	A
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56.0	51.0	53.0		2645,2078,2645	5.7	1.0	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	Somatic	178	2.72	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	25310746	63	50.00	64	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ATP13A5	344905	genome.wustl.edu	37	3	193028481	193028481	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr3:193028481G>C	ENST00000342358.4	-	21	2588	c.2471C>G	c.(2470-2472)gCa>gGa	p.A824G	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	824						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGACATTCTTGCAAAAACTGT	0.343																																						dbGAP											0			3											99.0	91.0	94.0					3																	193028481		2203	4300	6503	194511175	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2471C>G	3.37:g.193028481G>C	ENSP00000341942:p.Ala824Gly	Somatic	157	0.62	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	194511175	123	45.13	102	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665	p.A824G	ENST00000342358.4	37	c.2471	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779860	0.90195	.	.	ENSG00000187527	ENST00000342358	T	0.64438	-0.1	5.56	5.56	0.83823	HAD-like domain (2);	0.315426	0.30302	N	0.009931	D	0.84866	0.5567	H	0.94385	3.53	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	D	0.87897	0.2688	10	0.56958	D	0.05	-7.8016	17.3696	0.87372	0.0:0.0:1.0:0.0	.	824	Q4VNC0	AT135_HUMAN	G	824	ENSP00000341942:A824G	ENSP00000341942:A824G	A	-	2	0	ATP13A5	194511175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.182000	0.71995	2.778000	0.95560	0.655000	0.94253	GCA	-	superfamily_SSF56784,superfamily_SSF81665		0.343	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	G	NM_198505		194511175	-1	no_errors	NM_198505.2	genbank	human	provisional	54_36p	missense	SNP	1.000	C
PCDHA13	56136	genome.wustl.edu	37	5	140264046	140264046	+	Silent	SNP	G	G	A			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr5:140264046G>A	ENST00000289272.2	+	1	2193	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.A731A|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCGCGCCGG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0			5											61.0	66.0	64.0					5																	140264046		2203	4297	6500	140244230	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2193G>A	5.37:g.140264046G>A		Somatic	8	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140244230	31	44.07	26	O75277	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.A731	ENST00000289272.2	37	c.2193	CCDS4240.1	5																																																																																			-	NULL		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140244230	+1	no_errors	NM_018904.2	genbank	human	reviewed	54_36p	silent	SNP	0.239	A
PPP2R2B	5521	genome.wustl.edu	37	5	145969731	145969731	+	Missense_Mutation	SNP	G	G	A	rs370195005		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr5:145969731G>A	ENST00000394413.3	-	9	1681	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R371C|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R429C|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R371C|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R371C|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R360C|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R377C|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R437C|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R360C|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R374C|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	371					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACATCACGCTTGGTGTTT	0.512																																						dbGAP											0			5						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	77.0	79.0		1111,1111,1111,1111,1120,1051,1078	5.3	1.0	5		79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	371/444,371/444,371/444,371/444,374/447,351/424,360/433	145969731	1,13005	2203	4300	6503	145949924	SO:0001583	missense	0			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1111C>T	5.37:g.145969731G>A	ENSP00000377935:p.Arg371Cys	Somatic	223	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	145949924	171	41.14	123	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,PatternScan_PR55_2,HMMPfam_PP2A_B_N,HMMPfam_PP2A_B_subs_rcg,PatternScan_WD_REPEATS_1	p.R374C	ENST00000394413.3	37	c.1120	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413683	0.62511	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;1.44;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;1.44	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115539	0.64402	D	0.000011	T	0.74084	0.3670	M	0.71581	2.175	0.80722	D	1	B;B;B;B;B;B	0.28128	0.146;0.027;0.027;0.091;0.201;0.174	B;B;B;B;B;B	0.21151	0.019;0.021;0.021;0.019;0.021;0.033	T	0.71695	-0.4515	10	0.39692	T	0.17	-2.5928	19.1301	0.93402	0.0:0.0:1.0:0.0	.	429;377;360;437;374;371	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	C	371;360;437;371;371;371;360;374;377;429	ENSP00000377935:R371C;ENSP00000431320:R360C;ENSP00000377936:R437C;ENSP00000377933:R371C;ENSP00000349283:R371C;ENSP00000398779:R371C;ENSP00000377932:R360C;ENSP00000336591:R374C;ENSP00000421396:R377C;ENSP00000377931:R429C	ENSP00000336591:R374C	R	-	1	0	AC011357.1	145949924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.767000	0.95098	0.655000	0.94253	CGT	-	superfamily_WD40 repeat-like		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145949924	-1	no_errors	NM_181676.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
C6orf118	168090	genome.wustl.edu	37	6	165715653	165715653	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr6:165715653C>T	ENST00000230301.8	-	2	178	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	53										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GACGTCCTCCCGGTGGTCTTT	0.557																																						dbGAP											0			6											94.0	103.0	100.0					6																	165715653		2203	4300	6503	165635643	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.158G>A	6.37:g.165715653C>T	ENSP00000230301:p.Arg53Gln	Somatic	49	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	165635643	180	25.61	63	Q8TC11	Missense_Mutation	SNP	NULL	p.R53Q	ENST00000230301.8	37	c.158	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934645	0.34189	.	.	ENSG00000112539	ENST00000230301	T	0.14266	2.52	5.31	-1.81	0.07882	.	0.763663	0.12006	N	0.508396	T	0.03178	0.0093	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.18263	0.021	T	0.36625	-0.9740	10	0.49607	T	0.09	.	5.6239	0.17473	0.1385:0.3159:0.0:0.5456	.	53	Q5T5N4	CF118_HUMAN	Q	53	ENSP00000230301:R53Q	ENSP00000230301:R53Q	R	-	2	0	C6orf118	165635643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.841000	0.04359	-0.482000	0.06782	-0.150000	0.13652	CGG	-	NULL		0.557	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	protein_coding	OTTHUMT00000043026.1	C	NM_144980		165635643	-1	no_errors	NM_144980.3	genbank	human	validated	54_36p	missense	SNP	0.017	T
ASB4	51666	genome.wustl.edu	37	7	95115472	95115472	+	Splice_Site	SNP	T	T	G			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr7:95115472T>G	ENST00000325885.5	+	1	258		c.e1+2		ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Splice_Site	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4						intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATAAACAAGGTAAAAACATAT	0.308																																						dbGAP											0			7											61.0	64.0	63.0					7																	95115472		2203	4300	6503	94953408	SO:0001630	splice_region_variant	0			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.187+2T>G	7.37:g.95115472T>G		Somatic	65	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	94953408	109	39.23	71	A4D1H6|O14586|Q14D68|Q8TBT2	Splice_Site	SNP	-	e1+2	ENST00000325885.5	37	c.187+2	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511087	0.64522	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2668	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASB4	94953408	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.860000	0.75473	2.266000	0.75297	0.529000	0.55759	.	-	-		0.308	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	protein_coding	OTTHUMT00000333225.2	T	NM_016116	Intron	94953408	+1	no_errors	NM_016116.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
PZP	5858	genome.wustl.edu	37	12	9311061	9311061	+	Silent	SNP	A	A	G			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:9311061A>G	ENST00000261336.2	-	26	3277	c.3249T>C	c.(3247-3249)aaT>aaC	p.N1083N	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Silent_p.N869N	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1083					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAAACAGCCATTGTCCTTCT	0.483																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0			12											202.0	187.0	192.0					12																	9311061		2203	4300	6503	9202328	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3249T>C	12.37:g.9311061A>G		Somatic	253	3.03	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	9202328	242	13.83	39	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN	p.N1083	ENST00000261336.2	37	c.3249	CCDS8600.1	12																																																																																			-	superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp		0.483	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	A	NM_002864		9202328	-1	no_errors	NM_002864.2	genbank	human	validated	54_36p	silent	SNP	0.998	G
KRAS	3845	genome.wustl.edu	37	12	25380282	25380282	+	Missense_Mutation	SNP	G	G	T	rs104886029		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:25380282G>T	ENST00000256078.4	-	3	239	c.176C>A	c.(175-177)gCa>gAa	p.A59E	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A59E|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	59			A -> T (in bladder cancer and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789}.		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.A59E(4)|p.A59G(4)	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)			CTCTTGACCTGCTGTGTCGAG	0.418		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"""	8	Substitution - Missense(8)	large_intestine(4)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	12											107.0	95.0	99.0					12																	25380282		2203	4300	6503	25271549	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.176C>A	12.37:g.25380282G>T	ENSP00000256078:p.Ala59Glu	Somatic	83	1.16	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	25271549	74	40.62	52	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.A59E	ENST00000256078.4	37	c.176	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.269436	0.95429	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88975	-2.45;-2.45	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.046090	0.85682	D	0.000000	D	0.96870	0.8978	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.975;0.999	D	0.97659	1.0159	10	0.87932	D	0	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	59;59	P01116-2;P01116	.;RASK_HUMAN	E	59	ENSP00000308495:A59E;ENSP00000256078:A59E	ENSP00000256078:A59E	A	-	2	0	KRAS	25271549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	GCA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	G	NM_033360		25271549	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ANKRD33	341405	genome.wustl.edu	37	12	52284913	52284913	+	Intron	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:52284913C>T	ENST00000340970.4	+	6	1035				ANKRD33_ENST00000301190.6_Missense_Mutation_p.P395S|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TAGCACCAGCCCCAGGCCCCA	0.617																																						dbGAP											0			12											72.0	59.0	64.0					12																	52284913		2203	4300	6503	50571180	SO:0001627	intron_variant	0				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.665-57C>T	12.37:g.52284913C>T		Somatic	59	1.64	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	50571180	67	48.46	63	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.P395S	ENST00000340970.4	37	c.1183	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336330	0.24253	.	.	ENSG00000167612	ENST00000301190	T	0.25085	1.82	3.66	0.435	0.16544	.	0.479499	0.23206	N	0.050726	T	0.13114	0.0318	.	.	.	0.21652	N	0.999606	P	0.36392	0.551	B	0.28784	0.094	T	0.14924	-1.0455	9	0.62326	D	0.03	-11.0869	4.011	0.09623	0.2367:0.5474:0.0:0.2159	.	395	Q7Z3H0-2	.	S	395	ENSP00000301190:P395S	ENSP00000301190:P395S	P	+	1	0	ANKRD33	50571180	0.003000	0.15002	0.015000	0.15790	0.994000	0.84299	0.428000	0.21395	0.221000	0.20879	0.561000	0.74099	CCC	-	NULL		0.617	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	protein_coding	OTTHUMT00000404515.1	C	NM_182608		50571180	+1	no_errors	NM_182608.1	genbank	human	validated	54_36p	missense	SNP	0.144	T
RPL6	6128	genome.wustl.edu	37	12	112846412	112846412	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:112846412C>T	ENST00000424576.2	-	2	234	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	RPL6_ENST00000202773.9_Missense_Mutation_p.E17K	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TTCTTGGCTTCGGGTTTCTTC	0.438																																						dbGAP											0			12											23.0	28.0	26.0					12																	112846412		2186	4240	6426	111330795	SO:0001583	missense	0			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.49G>A	12.37:g.112846412C>T	ENSP00000403172:p.Glu17Lys	Somatic	74	1.32	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	111330795	35	32.08	17	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	HMMPfam_Ribosomal_L6e,PatternScan_RIBOSOMAL_L6E,HMMPfam_Ribosomal_L6e_N	p.E17K	ENST00000424576.2	37	c.49	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522433	0.13066	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343;ENST00000549006	T;T	0.30182	1.54;1.54	4.24	3.31	0.37934	.	1.648640	0.03430	N	0.207613	T	0.24890	0.0604	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24368	-1.0162	10	0.45353	T	0.12	.	11.5855	0.50916	0.0:0.8196:0.1804:0.0	.	17;17	B2R4K7;Q02878	.;RL6_HUMAN	K	17	ENSP00000202773:E17K;ENSP00000403172:E17K	ENSP00000202773:E17K	E	-	1	0	RPL6	111330795	0.001000	0.12720	0.132000	0.22025	0.041000	0.13682	0.394000	0.20834	1.095000	0.41419	0.650000	0.86243	GAA	-	NULL		0.438	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	protein_coding	OTTHUMT00000405422.1	C			111330795	-1	no_errors	NM_000970.3	genbank	human	reviewed	54_36p	missense	SNP	0.240	T
IGHGP	3505	genome.wustl.edu	37	14	106135119	106135119	+	IGR	SNP	T	T	C			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr14:106135119T>C								RP11-731F5.2 (19725 upstream) : AL928768.3 (35181 downstream)																							GCTGACCACATGGTACGTGCT	0.567																																						dbGAP											0			14																																								105206164	SO:0001628	intergenic_variant	0																															14.37:g.106135119T>C		Somatic	34	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	105206164	43	38.89	28		Missense_Mutation	SNP	PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726	p.M186V		37	c.556		14																																																																																			-	HMMPfam_C1-set,superfamily_SSF48726	0	0.567					ENSG00000211894			T			105206164	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390546	ensembl	human	known	54_36p	missense	SNP	0.021	C
IDH2	3418	genome.wustl.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	15											85.0	81.0	82.0					15																	90631838		2200	4298	6498	88432842	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	Somatic	65	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	88432842	75	38.02	46	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R172K	ENST00000330062.3	37	c.515	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432842	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
AC087499.10	0	genome.wustl.edu	37	17	20516962	20516962	+	lincRNA	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr17:20516962C>T	ENST00000428134.1	-	0	457																											TCGTCTGTTGCTGCAGCTCCA	0.582																																						dbGAP											0			17																																								20457554			0																															17.37:g.20516962C>T		Somatic	33	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	20457554	98	39.51	64		RNA	SNP	-	NULL	ENST00000428134.1	37	NULL		17																																																																																			-	-		0.582	AC087499.10-001	KNOWN	basic	lincRNA	LOC401875	lincRNA	OTTHUMT00000132426.1	C			20457554	+1	pseudogene	XR_042367.1	genbank	human	model	54_36p	rna	SNP	0.961	T
SMURF2	64750	genome.wustl.edu	37	17	62589578	62589578	+	Missense_Mutation	SNP	T	T	C	rs80215473	byFrequency	TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr17:62589578T>C	ENST00000262435.9	-	4	501	c.314A>G	c.(313-315)aAc>aGc	p.N105S	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	105					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTGAGGCGGTTGATGGCATT	0.373													T|||	59	0.0117812	0.0061	0.0086	5008	,	,		13329	0.0		0.0288	False		,,,				2504	0.0164					dbGAP											0			17						T	SER/ASN	33,4373	38.4+/-70.7	0,33,2170	123.0	109.0	114.0		314	5.7	1.0	17	dbSNP_131	114	223,8377	93.3+/-155.3	2,219,4079	yes	missense	SMURF2	NM_022739.3	46	2,252,6249	CC,CT,TT		2.593,0.749,1.9683	benign	105/749	62589578	256,12750	2203	4300	6503	60020040	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.314A>G	17.37:g.62589578T>C	ENSP00000262435:p.Asn105Ser	Somatic	352	3.55	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	60020040	65	41.96	47	Q52LL1|Q9H260	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.N105S	ENST00000262435.9	37	c.314	CCDS32707.1	17	28	0.01282051282051282	3	0.006097560975609756	4	0.011049723756906077	0	0.0	21	0.027704485488126648	T	13.34	2.207334	0.39003	0.00749	0.02593	ENSG00000108854	ENST00000262435	T	0.66280	-0.2	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.081322	0.85682	D	0.000000	T	0.14485	0.0350	N	0.01482	-0.84	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.17832	T	0.49	.	16.0028	0.80308	0.0:0.0:0.0:1.0	.	105	Q9HAU4	SMUF2_HUMAN	S	105	ENSP00000262435:N105S	ENSP00000262435:N105S	N	-	2	0	SMURF2	60020040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.966000	0.63715	2.180000	0.69256	0.533000	0.62120	AAC	-	HMMSmart_C2,superfamily_C2_CaLB		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	protein_coding	OTTHUMT00000445227.1	T	NM_022739		60020040	-1	no_errors	NM_022739.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
CENPB	1059	genome.wustl.edu	37	20	3766879	3766879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr20:3766879C>T	ENST00000379751.4	-	1	458	c.252G>A	c.(250-252)tgG>tgA	p.W84*	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	84	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TCTGCTGGAACCAGGCGATGA	0.652																																						dbGAP											0			20											63.0	64.0	64.0					20																	3766879		2203	4300	6503	3714879	SO:0001587	stop_gained	0			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.252G>A	20.37:g.3766879C>T	ENSP00000369075:p.Trp84*	Somatic	11	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	3714879	40	35.94	23	Q96EI4	Nonsense_Mutation	SNP	HMMPfam_DDE,HMMSmart_CENPB,HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_Cenp-B_dimeris,HMMPfam_CenpB-DNA-bind,superfamily_SSF101160	p.W84*	ENST00000379751.4	37	c.252	CCDS13064.1	20	.	.	.	.	.	.	.	.	.	.	c	36	5.743059	0.96873	.	.	ENSG00000125817	ENST00000379751	.	.	.	3.28	3.28	0.37604	.	0.000000	0.32836	U	0.005589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1166	0.53868	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000369075:W84X	W	-	3	0	CENPB	3714879	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	1.804000	0.38873	1.403000	0.46800	0.177000	0.17058	TGG	-	HMMSmart_CENPB,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind		0.652	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPB	protein_coding	OTTHUMT00000077772.2	C	NM_001810		3714879	-1	no_errors	NM_001810.5	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
ASXL1	171023	genome.wustl.edu	37	20	31023271	31023272	+	Frame_Shift_Ins	INS	-	-	ACCA	rs549809573		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	-	-	-	ACCA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr20:31023271_31023272insACCA	ENST00000375687.4	+	13	3180_3181	c.2756_2757insACCA	c.(2755-2760)ataccafs	p.-920fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.-915fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P920fs*4(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAGAACACATACCATCTGTTG	0.51			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	20																																								30486933	SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2757_2760dupACCA	20.37:g.31023272_31023275dupACCA	ENSP00000364839:p.Pro920fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	30486932	NA	NA	NA	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Ins	INS	NULL	p.S921fs	ENST00000375687.4	37	c.2756_2757	CCDS13201.1	20																																																																																			-	NULL		0.510	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	-	NM_015338		30486933	+1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.000:0.000	ACCA
