#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
DDX53	168400	genome.wustl.edu	37	X	23018296	23018296	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chrX:23018296C>T	ENST00000327968.5	+	1	210	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	41						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATCAGGGACCGAGAGCAGCA	0.532																																						dbGAP											0			X											54.0	51.0	52.0					X																	23018296		2203	4300	6503	22928217	SO:0001583	missense	0			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.122C>T	X.37:g.23018296C>T	ENSP00000368667:p.Pro41Leu	74	6.33	5		NA	NA	NA	22928217	40	46.67	35	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_KH,HMMPfam_DEAD,HMMSmart_DEXDc,HMMPfam_KH_1,superfamily_SSF52540,superfamily_SSF54791	p.P41L	ENST00000327968.5	37	c.122	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	C	4.509	0.094520	0.08632	.	.	ENSG00000184735	ENST00000327968	T	0.21031	2.03	3.02	2.15	0.27550	.	1.224180	0.06020	U	0.651148	T	0.11537	0.0281	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.34675	-0.9819	10	0.10377	T	0.69	.	5.3099	0.15825	0.0:0.8364:0.0:0.1636	.	41	Q86TM3	DDX53_HUMAN	L	41	ENSP00000368667:P41L	ENSP00000368667:P41L	P	+	2	0	DDX53	22928217	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	0.662000	0.25038	0.685000	0.31468	0.600000	0.82982	CCG	-	superfamily_SSF54791		0.532	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	protein_coding	OTTHUMT00000056043.1	C	NM_182699		22928217	+1	no_errors	NM_182699.2	genbank	human	validated	54_36p	missense	SNP	0.001	T
RBBP4	5928	genome.wustl.edu	37	1	33138072	33138072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:33138072G>A	ENST00000373493.5	+	9	1147	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RBBP4_ENST00000544435.1_Missense_Mutation_p.E78K|RBBP4_ENST00000373485.1_Missense_Mutation_p.E330K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E329K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E295K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	330					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACCTCACAATGAGACTATTTT	0.333																																						dbGAP											0			1											89.0	83.0	85.0					1																	33138072		2203	4299	6502	32910659	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.988G>A	1.37:g.33138072G>A	ENSP00000362592:p.Glu330Lys	132	6.34	9		NA	NA	NA	32910659	103	44.21	84	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.E330K	ENST00000373493.5	37	c.988	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.681733|4.681733	0.88542|0.88542	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000463378	T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67449|0.67449	0.2894|0.2894	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	P;P|.	0.38551|.	0.555;0.636|.	B;P|.	0.46585|.	0.218;0.521|.	T|T	0.65134|0.65134	-0.6242|-0.6242	10|5	0.51188|.	T|.	0.08|.	.|.	16.9891|16.9891	0.86348|0.86348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;330|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	K|I	329;330;78;330;295;68|89	ENSP00000398242:E329K;ENSP00000362592:E330K;ENSP00000442384:E78K;ENSP00000362584:E330K;ENSP00000396057:E295K;ENSP00000436565:E68K|.	ENSP00000362584:E330K|.	E|M	+|+	1|3	0|0	RBBP4|RBBP4	32910659|32910659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.736000|9.736000	0.98828|0.98828	2.339000|2.339000	0.79563|0.79563	0.467000|0.467000	0.42956|0.42956	GAG|ATG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	protein_coding	OTTHUMT00000021957.3	G	NM_005610		32910659	+1	no_errors	NM_005610.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZFP69	339559	genome.wustl.edu	37	1	40961520	40961520	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:40961520A>G	ENST00000372706.1	+	6	2376	c.1370A>G	c.(1369-1371)cAt>cGt	p.H457R	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.H457R			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTTAGCAACCATAAAACTGTT	0.413																																						dbGAP											0			1											84.0	82.0	83.0					1																	40961520		2203	4300	6503	40734107	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1370A>G	1.37:g.40961520A>G	ENSP00000361791:p.His457Arg	109	12.00	15		NA	NA	NA	40734107	45	55.00	55	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.H457R	ENST00000372706.1	37	c.1370	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592514	0.66219	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.34859	1.34;1.34	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000634	T	0.67702	0.2921	M	0.93328	3.405	0.54753	D	0.99998	D	0.76494	0.999	D	0.83275	0.996	T	0.76427	-0.2963	10	0.87932	D	0	-12.5571	12.4448	0.55645	1.0:0.0:0.0:0.0	.	457	Q49AA0	ZN642_HUMAN	R	457	ENSP00000361791:H457R;ENSP00000361790:H457R	ENSP00000361790:H457R	H	+	2	0	ZNF642	40734107	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.220000	0.78008	2.248000	0.74166	0.459000	0.35465	CAT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.413	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF642	protein_coding	OTTHUMT00000019082.1	A	NM_198494		40734107	+1	no_errors	NM_198494.2	genbank	human	validated	54_36p	missense	SNP	0.957	G
GCLM	2730	genome.wustl.edu	37	1	94362368	94362368	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:94362368C>T	ENST00000370238.3	-	5	592	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	116					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	ACTCCAAGGACTGAACAGGCT	0.388																																						dbGAP											0			1											70.0	71.0	71.0					1																	94362368		2203	4300	6503	94134956	SO:0001583	missense	0			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.346G>A	1.37:g.94362368C>T	ENSP00000359258:p.Val116Ile	83	4.49	4		NA	NA	NA	94134956	59	30.59	26	A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase	p.V116I	ENST00000370238.3	37	c.346	CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744841	0.30865	.	.	ENSG00000023909	ENST00000370238	T	0.41758	0.99	5.5	5.5	0.81552	NADP-dependent oxidoreductase domain (3);	0.348745	0.34025	N	0.004338	T	0.08758	0.0217	N	0.02247	-0.625	0.27728	N	0.944913	B	0.20887	0.049	B	0.22152	0.038	T	0.08351	-1.0726	10	0.56958	D	0.05	.	9.5499	0.39304	0.1426:0.7853:0.0:0.0721	.	116	P48507	GSH0_HUMAN	I	116	ENSP00000359258:V116I	ENSP00000359258:V116I	V	-	1	0	GCLM	94134956	0.913000	0.31002	0.999000	0.59377	0.875000	0.50365	1.752000	0.38349	2.748000	0.94277	0.655000	0.94253	GTC	-	superfamily_NAD(P)-linked oxidoreductase		0.388	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLM	protein_coding	OTTHUMT00000029169.1	C	NM_002061		94134956	-1	no_errors	NM_002061.2	genbank	human	reviewed	54_36p	missense	SNP	0.981	T
ITGAV	3685	genome.wustl.edu	37	2	187487079	187487079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr2:187487079T>A	ENST00000261023.3	+	3	604	c.330T>A	c.(328-330)taT>taA	p.Y110*	ITGAV_ENST00000433736.2_Nonsense_Mutation_p.Y64*|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.Y110*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	110					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATAGAGATTATGCCAAGGATG	0.343																																					Melanoma(58;108 1995 6081)	dbGAP											0			2											112.0	112.0	112.0					2																	187487079		2203	4300	6503	187195324	SO:0001587	stop_gained	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.330T>A	2.37:g.187487079T>A	ENSP00000261023:p.Tyr110*	202	9.01	20		NA	NA	NA	187195324	130	36.84	77	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain	p.Y110*	ENST00000261023.3	37	c.330	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	T	39	7.608623	0.98387	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.41	5.41	0.78517	.	0.663319	0.16379	N	0.216984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4374	0.67290	0.0:0.0:0.0:1.0	.	.	.	.	X	110;110;110;64	.	ENSP00000261023:Y110X	Y	+	3	2	ITGAV	187195324	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.086000	0.41643	2.061000	0.61500	0.533000	0.62120	TAT	-	superfamily_Integrin alpha N-terminal domain		0.343	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	T	NM_002210		187195324	+1	no_errors	NM_002210.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	81	5.81	5		NA	NA	NA	208821358	50	51.89	55	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CXCL10	3627	genome.wustl.edu	37	4	76943894	76943894	+	Silent	SNP	T	T	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr4:76943894T>C	ENST00000306602.1	-	2	203	c.138A>G	c.(136-138)gaA>gaG	p.E46E	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	46					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAAGTTTTTCTAAAGACC	0.393																																						dbGAP											0			4											115.0	106.0	109.0					4																	76943894		1860	4101	5961	77162918	SO:0001819	synonymous_variant	0			X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.138A>G	4.37:g.76943894T>C		213	10.29	25		NA	NA	NA	77162918	106	44.21	84	Q96QJ5	Silent	SNP	HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC	p.E46	ENST00000306602.1	37	c.138	CCDS43240.1	4																																																																																			-	HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC		0.393	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL10	protein_coding	OTTHUMT00000362817.1	T			77162918	-1	no_errors	NM_001565.2	genbank	human	reviewed	54_36p	silent	SNP	0.669	C
KIF27	55582	genome.wustl.edu	37	9	86518166	86518166	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr9:86518166C>T	ENST00000297814.2	-	4	1410	c.1267G>A	c.(1267-1269)Gtt>Att	p.V423I	KIF27_ENST00000334204.2_Missense_Mutation_p.V423I|KIF27_ENST00000413982.1_Missense_Mutation_p.V423I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	423					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTAGGTCAACCAGGAAGGTA	0.443																																						dbGAP											0			9											180.0	162.0	168.0					9																	86518166		2203	4300	6503	85707986	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1267G>A	9.37:g.86518166C>T	ENSP00000297814:p.Val423Ile	176	8.72	17		NA	NA	NA	85707986	106	38.73	67	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V423I	ENST00000297814.2	37	c.1267	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488492	0.26686	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.69806	-0.43;-0.4;-0.3	5.37	2.34	0.29019	.	0.557352	0.15769	N	0.245525	T	0.56761	0.2007	L	0.51422	1.61	0.27039	N	0.964056	B;B;B	0.27068	0.167;0.102;0.104	B;B;B	0.27380	0.053;0.079;0.024	T	0.51204	-0.8735	10	0.45353	T	0.12	.	7.1351	0.25523	0.0:0.6004:0.2541:0.1455	.	423;423;423	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	423	ENSP00000297814:V423I;ENSP00000401688:V423I;ENSP00000333928:V423I	ENSP00000297814:V423I	V	-	1	0	KIF27	85707986	0.001000	0.12720	0.997000	0.53966	0.806000	0.45545	0.320000	0.19540	0.642000	0.30620	0.655000	0.94253	GTT	-	NULL		0.443	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	C	NM_017576		85707986	-1	no_errors	NM_017576.1	genbank	human	provisional	54_36p	missense	SNP	0.878	T
SBF2	81846	genome.wustl.edu	37	11	10014071	10014071	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr11:10014071C>T	ENST00000256190.8	-	12	1324	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	SBF2_ENST00000527019.1_5'Flank	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	396	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACCAAACCACGCTGCCCCAA	0.368																																						dbGAP											0			11											65.0	59.0	61.0					11																	10014071		2200	4294	6494	9970647	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1187G>A	11.37:g.10014071C>T	ENSP00000256190:p.Arg396His	89	5.26	5		NA	NA	NA	9970647	61	47.46	56	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.R396H	ENST00000256190.8	37	c.1187	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.396405	0.96009	.	.	ENSG00000133812	ENST00000256190	T	0.50813	0.73	5.58	5.58	0.84498	dDENN (3);	0.279522	0.34959	N	0.003546	T	0.70988	0.3287	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73575	-0.3939	10	0.87932	D	0	.	19.5779	0.95452	0.0:1.0:0.0:0.0	.	396	Q86WG5	MTMRD_HUMAN	H	396	ENSP00000256190:R396H	ENSP00000256190:R396H	R	-	2	0	SBF2	9970647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.792000	0.85828	2.621000	0.88768	0.563000	0.77884	CGT	-	HMMPfam_dDENN,HMMSmart_SM00801		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	protein_coding	OTTHUMT00000386911.2	C	NM_030962		9970647	-1	no_errors	NM_030962.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	970241	970241	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr12:970241A>C	ENST00000315939.6	+	7	2326	c.1683A>C	c.(1681-1683)agA>agC	p.R561S	WNK1_ENST00000537687.1_Missense_Mutation_p.R561S|WNK1_ENST00000340908.4_Missense_Mutation_p.R154S|WNK1_ENST00000535572.1_Missense_Mutation_p.R561S|WNK1_ENST00000530271.2_Missense_Mutation_p.R561S|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	561					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCAAAGACAGAGTATCATTAA	0.418																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0			12											147.0	159.0	155.0					12																	970241		2203	4300	6503	840502	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1683A>C	12.37:g.970241A>C	ENSP00000313059:p.Arg561Ser	120	5.47	7		NA	NA	NA	840502	64	38.32	41	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase	p.R561S	ENST00000315939.6	37	c.1683	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649504	0.67358	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.67	3.38	0.38709	.	0.000000	0.64402	D	0.000001	T	0.35998	0.0951	M	0.85197	2.74	0.36835	D	0.887072	D;D;P	0.55172	0.97;0.97;0.949	D;D;D	0.75020	0.985;0.985;0.967	T	0.39603	-0.9606	10	0.87932	D	0	-14.1525	6.8834	0.24187	0.6718:0.0:0.3282:0.0	.	561;561;561	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	S	561;561;561;8;561;154	ENSP00000441972:R561S;ENSP00000313059:R561S;ENSP00000444465:R561S;ENSP00000433548:R561S;ENSP00000341292:R154S	ENSP00000252477:R8S	R	+	3	2	WNK1	840502	0.877000	0.30153	1.000000	0.80357	0.979000	0.70002	0.058000	0.14301	1.003000	0.39130	0.482000	0.46254	AGA	-	superfamily_Kinase_like		0.418	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	A	NM_018979		840502	+1	no_errors	NM_018979.2	genbank	human	validated	54_36p	missense	SNP	0.989	C
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187.0	141.0	156.0					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	94	2.06	2		NA	NA	NA	27490642	77	36.36	44	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AKAP5	9495	genome.wustl.edu	37	14	64935416	64935416	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr14:64935416G>A	ENST00000394718.4	+	2	682	c.304G>A	c.(304-306)Gag>Aag	p.E102K	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E102K	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	102	AKAP.|Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AAAGCCATTGGAGGGTGAAAT	0.468																																						dbGAP											0			14											85.0	97.0	93.0					14																	64935416		2202	4300	6502	64005169	SO:0001583	missense	0			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.304G>A	14.37:g.64935416G>A	ENSP00000378207:p.Glu102Lys	54	8.33	5		NA	NA	NA	64005169	35	38.60	22	A2RRB8	Missense_Mutation	SNP	HMMPfam_WSK,HMMPfam_RII_binding_1	p.E102K	ENST00000394718.4	37	c.304	CCDS9764.1	14	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802511	0.16397	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.44482	0.92;0.92	5.72	3.92	0.45320	Protein kinase A anchoring, WSK motif (1);	0.399172	0.23791	N	0.044524	T	0.24547	0.0595	N	0.11560	0.145	0.21445	N	0.99968	B	0.24258	0.1	B	0.28916	0.096	T	0.19353	-1.0308	10	0.26408	T	0.33	-1.8908	10.52	0.44914	0.1503:0.0:0.8497:0.0	.	102	P24588	AKAP5_HUMAN	K	102	ENSP00000378207:E102K;ENSP00000315615:E102K	ENSP00000315615:E102K	E	+	1	0	AKAP5	64005169	0.987000	0.35691	0.206000	0.23566	0.007000	0.05969	2.013000	0.40942	0.797000	0.33971	0.655000	0.94253	GAG	-	HMMPfam_WSK		0.468	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	protein_coding	OTTHUMT00000268070.3	G			64005169	+1	no_errors	NM_004857.3	genbank	human	reviewed	54_36p	missense	SNP	0.265	A
BZRAP1	9256	genome.wustl.edu	37	17	56408623	56408623	+	5'Flank	SNP	A	A	G			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr17:56408623A>G	ENST00000268893.6	-	0	0				BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000384835.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1_ENST00000355701.3_5'Flank|BZRAP1-AS1_ENST00000580633.1_RNA	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTAGGAAACACTACACCCTC	0.587																																						dbGAP											0			17											109.0	104.0	106.0					17																	56408623		1568	3582	5150	53763622	SO:0001631	upstream_gene_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408623A>G	Exception_encountered	61	3.12	2		NA	NA	NA	53763622	48	37.97	30	O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			-	-		0.587	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIRN142	protein_coding	OTTHUMT00000443978.1	A	NM_004758		53763622	-1	no_errors	ENST00000384835	ensembl	human	known	54_36p	rna	SNP	1.000	G
DDX17	10521	genome.wustl.edu	37	22	38894089	38894089	+	Splice_Site	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr22:38894089C>T	ENST00000396821.3	-	5	838		c.e5+1		DDX17_ENST00000381633.3_Splice_Site|DDX17_ENST00000432525.1_Splice_Site	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17						ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AACACACTTACGATTGGGCCA	0.408																																					Ovarian(55;1085 1454 6392 21425)	dbGAP											0			22											85.0	85.0	85.0					22																	38894089		2203	4300	6503	37224035	SO:0001630	splice_region_variant	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.738+1G>A	22.37:g.38894089C>T		133	5.48	8		NA	NA	NA	37224035	90	44.64	75	B1AHM0|Q69YT1|Q6ICD6	Splice_Site	SNP	-	e5+1	ENST00000396821.3	37	c.738+1	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414902	0.83449	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0526	0.80774	0.1346:0.8654:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX17	37224035	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.736000	0.93811	0.591000	0.81541	.	-	-		0.408	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000321476.2	C	NM_030881	Intron	37224035	-1	no_errors	NM_001098504.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
SHC1	6464	genome.wustl.edu	37	1	154942910	154942911	+	Frame_Shift_Ins	INS	-	-	G	rs115641580	byFrequency	TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:154942910_154942911insG	ENST00000368445.5	-	1	306_307	c.92_93insC	c.(91-93)ccgfs	p.P31fs	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Frame_Shift_Ins_p.P31fs|SHC1_ENST00000368450.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	31					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E32fs*23(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCTCCTCCGGGGGGGTGGA	0.619																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)	1																																								153209535	SO:0001589	frameshift_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.93dupC	1.37:g.154942917_154942917dupG	ENSP00000357430:p.Pro31fs	19	0.00	0		NA	NA	NA	153209534	25	10.71	3	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like,superfamily_SH2 domain	p.E32fs	ENST00000368445.5	37	c.93_92	CCDS30881.1	1																																																																																			-	NULL		0.619	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	protein_coding	OTTHUMT00000090781.2	-	NM_183001		153209535	-1	no_errors	NM_183001.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	G
STC2	8614	genome.wustl.edu	37	5	172744925	172744926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr5:172744925_172744926insC	ENST00000265087.4	-	4	2142_2143	c.833_834insG	c.(832-834)ggcfs	p.G278fs	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCCCCAAGGCCCCCGACTCT	0.609																																						dbGAP											0			5																																								172677532	SO:0001589	frameshift_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.834dupG	5.37:g.172744930_172744930dupC	ENSP00000265087:p.Gly278fs	32	0.00	0		NA	NA	NA	172677531	39	7.14	3		Frame_Shift_Ins	INS	HMMPfam_Stanniocalcin	p.L279fs	ENST00000265087.4	37	c.834_833	CCDS4388.1	5																																																																																			-	NULL		0.609	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	-	NM_003714		172677532	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.011:0.001	C
