#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_Annotation_Transcript	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_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_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_type	i_havana_transcript	i_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
ZNF518B	85460	broad.mit.edu	37	4	10444852	10444852	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr4:10444852C>T	ENST00000326756.3	-	3	3539	c.3101G>A	c.(3100-3102)tGt>tAt	p.C1034Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1034					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTAAATACACACTGTGAAGA	0.393																																						ENST00000326756.3											0			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(3100-3102)tGt>tAt	zinc finger protein 518B						114.0	106.0	109.0					4																	10444852		2203	4300	6503	SO:0001583	missense	85460			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444852C>T	AB051516	AB051516	CCDS33960.1	CCDS33960.1	4p16.1	2007-12-07			2007-12-07				ENSG00000178163		ENSG00000178163		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	29365	29365	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11214970	11214970	Standard	Standard	XM_005248193	XM_005248193		Approved	KIAA1729	uc003gmn.3	uc003gmn.3	Q9C0D4	Q9C0D4			ENST00000326756.3:c.3101G>A	4.37:g.10444852C>T	ENSP00000317614:p.Cys1034Tyr			p.C1034Y	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3539	-			1034		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.3101G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224291	0.58668	.	.	ENSG00000178163	ENST00000326756	T	0.01685	4.69	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.250043	0.36303	N	0.002673	T	0.04724	0.0128	L	0.43152	1.355	0.29957	N	0.819761	D	0.64830	0.994	P	0.52672	0.706	T	0.02632	-1.1131	10	0.87932	D	0	-15.7531	15.1281	0.72497	0.0:0.8593:0.1407:0.0	.	1034	Q9C0D4	Z518B_HUMAN	Y	1034	ENSP00000317614:C1034Y	ENSP00000317614:C1034Y	C	-	2	0	0	ZNF518B	10053950	10053950	0.915000	0.31059	0.992000	0.48379	0.704000	0.40688	2.137000	0.42130	2.882000	0.98803	0.655000	0.94253	TGT		0.393	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		50.228912	12	12	91	91	NM_053042		18	52.087051	52.087051	40	0.310345	0	0	0	1	0	18	40	0.310345
ERBB4	2066	broad.mit.edu	37	2	212484000	212484000	+	Splice_Site	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr2:212484000C>A	ENST00000342788.4	-	19	2513	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACCCAAATACCCTTTGGGGAA	0.338										TSP Lung(8;0.080)																												ENST00000342788.4											0			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2203-2205)Ggt>Tgt	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						73.0	73.0	73.0					2																	212484000		2203	4300	6503	SO:0001630	splice_region_variant	2066			cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212484000C>A	L07868	L07868	CCDS2394.1, CCDS42811.1	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	ENSG00000178568	ENSG00000178568				3432	3432	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600543	600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""		"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	7700649, 17018285	Standard	Standard	NM_001042599	NM_001042599		Approved	ALS19	uc002veg.1	uc002veg.1	Q15303	Q15303	OTTHUMG00000133012	OTTHUMG00000133012	ENST00000342788.4:c.2203-1G>T	2.37:g.212484000C>A			ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	p.G735C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	19	2513	-		Renal(323;0.06)|Lung NSC(271;0.197)	735	Protein kinase.	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37	c.2203G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260008|5.260008	0.95368|0.95368	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|D	0.86694|0.90676	-2.16;-2.16;-2.16|-2.71	4.91|4.91	4.91|4.91	0.64330|0.64330	4.91|4.91	4.91|4.91	0.64330|0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.95389|0.95389	0.8503|0.8503	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	D|D	0.96085|0.96085	0.9057|0.9057	10|7	0.87932|0.87932	D|D	0|0	.|.	18.0478|18.0478	0.89338|0.89338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	725;725;735;735|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	C|N	735;735;725|724	ENSP00000342235:G735C;ENSP00000403204:G735C;ENSP00000385565:G725C|ENSP00000260943:K724N	ENSP00000342235:G735C|ENSP00000260943:K724N	G|K	-|-	1|3	0|2	0|2	ERBB4|ERBB4	212192245|212192245	212192245|212192245	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.568000|0.568000	0.35870|0.35870	7.426000|7.426000	0.80270|0.80270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		24.498962	1	1	46	46	NM_001042599	Missense_Mutation	11	27.543429	27.543429	36	0.234043	1	0	0.000673444	1	0.000705513	11	36	0.234043
ZNF525	170958	ucsc.edu	37	19	53884788	53884788	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:53884788G>A	ENST00000355326.3	+	1	110	c.110G>A	c.(109-111)aGa>aAa	p.R37K	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000467003.1_Missense_Mutation_p.R283K|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R319K			Q8N782	ZN525_HUMAN	zinc finger protein 525	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AGACATAGGAGAATTCATACT	0.398																																																	0																																														SO:0001583	missense	170958							AB075859	AB075859			19q13.42	2013-01-16			2013-01-16			ENSG00000203326	ENSG00000203326	ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	29423	29423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11853319	11853319	Standard	Standard	NR_003699	NR_003699		Approved	KIAA1979	uc010eqn.3	uc010eqn.3	Q8N782	Q8N782	OTTHUMG00000158277	OTTHUMG00000158277	ENST00000355326.3:c.110G>A	19.37:g.53884788G>A	ENSP00000408929:p.Arg37Lys																	Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37			.	.	.	.	.	.	.	.	.	.	G	7.623	0.677296	0.14841	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.18338	4.4;4.4;2.22	1.81	-0.703	0.11261	1.81	-0.703	0.11261	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	1	P	0.36125	0.538	B	0.38264	0.269	T	0.22208	-1.0223	8	0.49607	T	0.09	.	6.5247	0.22295	0.277:0.0:0.723:0.0	.	37	Q8N782	ZN525_HUMAN	K	319;283;37	ENSP00000417696:R319K;ENSP00000419136:R283K;ENSP00000408929:R37K	ENSP00000408929:R37K	R	+	2	0	0	ZNF525	58576600	58576600	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.878000	0.04192	-0.294000	0.08973	-0.708000	0.03648	AGA		0.398	ZNF525-201	KNOWN	basic	protein_coding	protein_coding				4	4	76	76	NR_003699		4			18							4	18	
ALDH9A1	223	broad.mit.edu	37	1	165664619	165664619	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:165664619G>A	ENST00000354775.4	-	2	501	c.197C>T	c.(196-198)aCt>aTt	p.T66I	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	42					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACATGTGAAAGTAGCTATCAC	0.348																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4											0			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(196-198)aCt>aTt	aldehyde dehydrogenase 9 family, member A1						92.0	92.0	92.0					1																	165664619		2203	4300	6503	SO:0001583	missense	223			carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165664619G>A	U34252	U34252	CCDS1250.2	CCDS1250.2	1q22-q23	2008-02-05			2008-02-05			ENSG00000143149	ENSG00000143149	ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	"""Aldehyde dehydrogenases"""	412	412	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602733	602733		ALDH7, ALDH4, ALDH9		ALDH7, ALDH4, ALDH9		8112751, 8786138	8112751, 8786138	Standard	Standard	NM_000696	NM_000696		Approved	E3	uc001gdh.1	uc001gdh.1	P49189	P49189	OTTHUMG00000034677	OTTHUMG00000034677	ENST00000354775.4:c.197C>T	1.37:g.165664619G>A	ENSP00000346827:p.Thr66Ile		ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	p.T66I	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			2	501	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		42		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.197C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118569	0.37436	.	.	ENSG00000143149	ENST00000354775	T	0.77358	-1.09	5.44	3.46	0.39613	5.44	3.46	0.39613	.	0.387023	0.31963	N	0.006792	T	0.60077	0.2241	L	0.59912	1.85	0.35257	D	0.779200	B;B	0.33964	0.307;0.434	B;B	0.36766	0.178;0.232	T	0.60156	-0.7318	9	0.40728	T	0.16	.	8.7029	0.34336	0.0845:0.1529:0.7626:0.0	.	56;66	B4DX14;B9EKV4	.;.	I	66	ENSP00000346827:T66I	ENSP00000346827:T66I	T	-	2	0	0	ALDH9A1	163931243	163931243	1.000000	0.71417	0.983000	0.44433	0.787000	0.44495	1.991000	0.40727	1.295000	0.44724	-0.140000	0.14226	ACT		0.348	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1		-8.332935	-14	-14	93	93			3	6.514201	6.514201	64	0.044776	0	0	0	1	0	3	64	0.044776
ZNF511	118472	broad.mit.edu	37	10	135123360	135123360	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr10:135123360C>T	ENST00000359035.3	+	3	311	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACTACCACACGCTGCACGGA	0.622																																						ENST00000359035.3											0			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(307-309)aCg>aTg	zinc finger protein 511						121.0	87.0	99.0					10																	135123360		2203	4300	6503	SO:0001583	missense	118472			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123360C>T	AK091711	AK091711	CCDS7677.1	CCDS7677.1	10q26.3	2010-04-12			2010-04-12			ENSG00000198546	ENSG00000198546	ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	28445	28445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_145806	NM_145806		Approved	MGC30006	uc001lmj.1	uc001lmj.1	Q8NB15	Q8NB15	OTTHUMG00000019317	OTTHUMG00000019317	ENST00000359035.3:c.308C>T	10.37:g.135123360C>T	ENSP00000351929:p.Thr103Met		ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M	p.T103M			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	3	311	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	103		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.308C>T		.	.	.	.	.	.	.	.	.	.	C	14.86	2.661848	0.47572	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88741	-2.42;-2.42;-2.42	5.2	3.22	0.36961	5.2	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.362109	0.32106	N	0.006566	T	0.77877	0.4196	L	0.37897	1.145	0.25754	N	0.98502	P;B;P	0.40660	0.726;0.331;0.466	B;B;B	0.27380	0.079;0.023;0.071	T	0.67457	-0.5666	10	0.35671	T	0.21	-20.4314	8.0905	0.30797	0.0:0.7754:0.0:0.2246	.	103;38;103	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	M	103;103;38	ENSP00000355251:T103M;ENSP00000351929:T103M;ENSP00000357542:T38M	ENSP00000351929:T103M	T	+	2	0	0	ZNF511	134973350	134973350	0.788000	0.28762	0.978000	0.43139	0.928000	0.56348	2.397000	0.44477	0.586000	0.29626	0.650000	0.86243	ACG		0.622	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1		58.116918	-17	-17	57	57	NM_145806		19	58.493216	58.493216	28	0.404255	0	0	0	1	0	19	28	0.404255
PCDHGB4	8641	broad.mit.edu	37	5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr5:140769318G>A	ENST00000519479.1	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGGCGAAGTGCGCAC	0.697																																						ENST00000519479.1											0			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1867-1869)Gaa>Aaa							32.0	38.0	36.0					5																	140769318		2135	4249	6384	SO:0001583	missense	0						g.chr5:140769318G>A	AF152520	AF152520	CCDS54928.1, CCDS75337.1	CCDS54928.1, CCDS75337.1	5q31	2010-01-26			2010-01-26				ENSG00000253953		ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8711	8711	other	protocadherin	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058	603058						10380929	10380929	Standard	Standard	NM_003736	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4			Q9UN71	Q9UN71			ENST00000519479.1:c.1867G>A	5.37:g.140769318G>A	ENSP00000428288:p.Glu623Lys		PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E623K	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1867	+					O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1867G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953749	0.73902	.	.	ENSG00000253953	ENST00000519479	T	0.53206	0.63	5.05	5.05	0.67936	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77246	0.4102	M	0.92459	3.31	0.31670	N	0.644471	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.83019	-0.0168	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	623;623	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	623	ENSP00000428288:E623K	ENSP00000428288:E623K	E	+	1	0	0	PCDHGB4	140749502	140749502	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	9.500000	0.97977	2.503000	0.84419	0.563000	0.77884	GAA		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		61.228755	-1	-1	65	65	NM_003736		22	62.729195	62.729195	43	0.338462	0	0	0	1	0	22	43	0.338462
ZBTB11	27107	broad.mit.edu	37	3	101378836	101378836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:101378836G>A	ENST00000312938.4	-	6	2417	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTGCTCGCAAAGAGGCA	0.378																																						ENST00000312938.4											0			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1837-1839)Cga>Tga	zinc finger and BTB domain containing 11						113.0	105.0	108.0					3																	101378836		2203	4300	6503	SO:0001587	stop_gained	27107			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378836G>A	U69274	U69274	CCDS2943.1	CCDS2943.1	3q12.3	2013-01-09			2013-01-09			ENSG00000066422	ENSG00000066422	ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	16740	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_014415	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	uc003dve.4	O95625	O95625	OTTHUMG00000159133	OTTHUMG00000159133	ENST00000312938.4:c.1837C>T	3.37:g.101378836G>A	ENSP00000326200:p.Arg613*			p.R613*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			6	2417	-			613		Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1837C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	45	11.599487	0.99581	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.7	2.86	0.33363	5.7	2.86	0.33363	.	0.072564	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2099	14.9393	0.70980	0.0:0.0:0.6079:0.3921	.	.	.	.	X	613	.	ENSP00000326200:R613X	R	-	1	2	2	ZBTB11	102861526	102861526	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	3.952000	0.56691	0.307000	0.22880	0.484000	0.47621	CGA		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		-4.922114	-10	-10	76	76	NM_014415		3	6.577676	6.577676	52	0.054545	0	0	0	1	0	3	52	0.054545
TLDC2	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr20:35507473C>T	ENST00000217320.3	+	3	263	c.219C>T	c.(217-219)acC>acT	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	73								p.T73T(1)									CAAGAGTCACCGGCCATCCCT	0.632																																						ENST00000217320.3											1	Substitution - coding silent(1)	large_intestine(1)								c.(217-219)acC>acT	TBC/LysM-associated domain containing 2						123.0	96.0	105.0					20																	35507473		2203	4300	6503	SO:0001819	synonymous_variant	140711						g.chr20:35507473C>T	AL079335	AL079335	CCDS33465.1	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342	ENSG00000101342	ENSG00000101342				16112	16112	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""			"""chromosome 20 open reading frame 118"""	C20orf118	"""chromosome 20 open reading frame 118"""	C20orf118				Standard	Standard	NM_080628	NM_080628		Approved	dJ132F21.2	uc002xgg.1	uc002xgg.1	A0PJX2	A0PJX2	OTTHUMG00000032400	OTTHUMG00000032400	ENST00000217320.3:c.219C>T	20.37:g.35507473C>T			TLDC2_ENST00000602922.1_Silent_p.T73T	p.T73T	NM_080628.1	NP_542195.1					3	263	+					B3KVU8	Silent	SNP	ENST00000217320.3	37	c.219C>T	CCDS33465.1																																																																																									0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2		-15.353407	-24	-24	93	93	NM_080628		3	6.308178	6.308178	88	0.032967	0	0	0	1	0	3	88	0.032967
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		39.435348	-10	-10	71	71	NM_002067		14	39.743357	39.743357	21	0.400000	0	0	0	1	0	14	21	0.4
SNTN	132203	broad.mit.edu	37	3	63638463	63638463	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:63638463A>T	ENST00000343837.3	+	1	120	c.100A>T	c.(100-102)Atg>Ttg	p.M34L	SNTN_ENST00000496807.1_Missense_Mutation_p.M30L	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	34						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						ACCTAGGAAAATGCCCAAAAG	0.448																																						ENST00000496807.1											0			endometrium(2)|ovary(1)	3						c.(88-90)Atg>Ttg	sentan, cilia apical structure protein						95.0	77.0	83.0					3																	63638463		2203	4300	6503	SO:0001583	missense	132203				cilium	calcium ion binding	g.chr3:63638463A>T	AK126350	AK126350	CCDS33779.1	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817	ENSG00000188817	ENSG00000188817				33706	33706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""S100A-like protein"""	"""S100A-like protein"""								18829862	18829862	Standard	Standard	NM_001080537	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	uc003dlr.3	A6NMZ2	A6NMZ2	OTTHUMG00000158766	OTTHUMG00000158766	ENST00000343837.3:c.100A>T	3.37:g.63638463A>T	ENSP00000341442:p.Met34Leu		SNTN_ENST00000343837.3_Missense_Mutation_p.M34L	p.M30L			A6NMZ2	SNTAN_HUMAN			1	90	+			34		B7FF65	Missense_Mutation	SNP	ENST00000343837.3	37	c.88A>T	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126273	0.37533	.	.	ENSG00000188817	ENST00000343837;ENST00000469440;ENST00000496807	T	0.43294	0.95	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.68317	2.08	0.33196	D	0.551526	P	0.51147	0.942	D	0.67231	0.95	T	0.69978	-0.4998	10	0.44086	T	0.13	-15.0832	11.8253	0.52263	1.0:0.0:0.0:0.0	.	34	A6NMZ2	SNTAN_HUMAN	L	34;34;30	ENSP00000341442:M34L	ENSP00000341442:M34L	M	+	1	0	0	SNTN	63613503	63613503	0.999000	0.42202	0.994000	0.49952	0.564000	0.35744	4.461000	0.60115	2.113000	0.64589	0.482000	0.46254	ATG		0.448	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1		37.864714	-34	-34	46	46	NM_001080537		13	38.476117	38.476117	23	0.361111	0	0	0	1	0	13	23	0.361111
MYO18B	84700	broad.mit.edu	37	22	26422803	26422803	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr22:26422803C>A	ENST00000407587.2	+	43	7035	c.6866C>A	c.(6865-6867)aCa>aAa	p.T2289K	MYO18B_ENST00000335473.7_Missense_Mutation_p.T2288K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2288						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGCCTCCACACTAAGGAGG	0.642																																						ENST00000335473.7											0			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6862-6864)aCa>aAa	myosin XVIIIB						17.0	21.0	20.0					22																	26422803		1890	4101	5991	SO:0001583	missense	84700				nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422803C>A	AJ310931	AJ310931	CCDS54507.1	CCDS54507.1	22q12.1	2011-09-27			2011-09-27			ENSG00000133454	ENSG00000133454	ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	"""Myosins / Myosin superfamily : Class XVIII"""	18150	18150	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607295	607295						12209013, 12547197	12209013, 12547197	Standard	Standard	NM_032608	NM_032608		Approved	BK125H2.1	uc003abz.1	uc003abz.1	Q8IUG5	Q8IUG5	OTTHUMG00000151129	OTTHUMG00000151129	ENST00000407587.2:c.6866C>A	22.37:g.26422803C>A	ENSP00000386096:p.Thr2289Lys		MYO18B_ENST00000407587.2_Missense_Mutation_p.T2289K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K	p.T2288K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7113	+			2288		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6863C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.765044|2.765044	0.49574|0.49574	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87650	.|-2.26;-2.26;-2.28	4.67|4.67	4.67|4.67	0.58626|0.58626	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.49916	.|D	.|0.000122	D|D	0.84370|0.84370	0.5457|0.5457	L|L	0.54323|0.54323	1.7|1.7	0.25374|0.25374	N|N	0.988673|0.988673	.|B;B;B;B;B	.|0.33583	.|0.279;0.294;0.294;0.418;0.418	.|B;B;B;B;B	.|0.30855	.|0.052;0.057;0.057;0.121;0.121	T|T	0.80276|0.80276	-0.1450|-0.1450	5|10	.|0.72032	.|D	.|0.01	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1801;2290;2288;2289;2288	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	N|K	238|2288;2288;2289	.|ENSP00000441229:T2288K;ENSP00000334563:T2288K;ENSP00000386096:T2289K	.|ENSP00000334563:T2288K	H|T	+|+	1|2	0|0	0|0	MYO18B|MYO18B	24752803|24752803	24752803|24752803	0.005000|0.005000	0.15991|0.15991	0.552000|0.552000	0.28243|0.28243	0.662000|0.662000	0.39071|0.39071	2.103000|2.103000	0.41806|0.41806	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	CAC|ACA		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		6.550001	7	7	13	13	NM_032608		2	6.550001	6.550001	2	0.500000	1	0	1	1	1	2	2	0.5
PKD1L2	114780	ucsc.edu	37	16	81209336	81209336	+	RNA	SNP	G	G	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr16:81209336G>T	ENST00000527937.1	-	0	338				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTTCAGGGCCACAGTGTA	0.542																																																	0																	82.0	83.0	83.0					16																	81209336		2024	4177	6201			114780							AY164483	AY164483	CCDS61998.1, CCDS61999.1	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			2014-09-11			ENSG00000166473	ENSG00000166473	ENSG00000166473	ENSG00000166473				21715	21715	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607894	607894						12782129	12782129	Standard	Standard	NM_052892	NM_052892		Approved	KIAA1879	uc002fgf.1	uc002fgf.1	Q7Z442	Q7Z442	OTTHUMG00000166126	OTTHUMG00000166126		16.37:g.81209336G>T																		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37			.	.	.	.	.	.	.	.	.	.	G	9.018	0.984184	0.18889	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.78	-0.0422	0.13864	4.78	-0.0422	0.13864	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	-15.7461	1.76	0.02990	0.277:0.1404:0.4394:0.1433	.	.	.	.	T	347	.	.	P	-	1	0	0	PKD1L2	79766837	79766837	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	0.738000	0.26158	0.127000	0.18452	-0.396000	0.06452	CCC		0.542	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			-21	-21	33	33			4			33							4	33	
SHF	90525	broad.mit.edu	37	15	45464122	45464122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr15:45464122G>A	ENST00000560471.1	-	6	1240	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'Flank|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000290894.8_Silent_p.R348R					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTCACTGTTGCGCACCAGGT	0.582																																						ENST00000560471.1											0			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(1237-1239)Caa>Taa	Src homology 2 domain containing F						86.0	66.0	73.0					15																	45464122		2198	4298	6496	SO:0001587	stop_gained	90525						g.chr15:45464122G>A	BC007586	BC007586	CCDS10120.2, CCDS73721.1	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			2013-02-14			ENSG00000138606	ENSG00000138606	ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	"""SH2 domain containing"""	25116	25116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11095946	11095946	Standard	Standard	NM_138356	NM_138356		Approved		uc001zuy.3	uc001zuy.3	Q7M4L6	Q7M4L6	OTTHUMG00000131353	OTTHUMG00000131353	ENST00000560471.1:c.1237C>T	15.37:g.45464122G>A	ENSP00000453260:p.Gln413*		SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron	p.Q413*			B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	6	1240	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	0			Nonsense_Mutation	SNP	ENST00000560471.1	37	c.1237C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.067341	0.76301	.	.	ENSG00000138606	ENST00000361989	.	.	.	4.94	1.49	0.22878	4.94	1.49	0.22878	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72043	-0.4409	5	0.87932	D	0	-15.0264	11.1936	0.48700	0.0:0.0:0.3183:0.6817	.	.	.	.	V	348	.	ENSP00000355004:A348V	A	-	2	0	0	SHF	43251414	43251414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.853000	0.27777	0.430000	0.26230	0.655000	0.94253	GCA		0.582	SHF-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416345.1		42.948425	-12	-12	42	42	NM_138356		14	42.948425	42.948425	14	0.500000	0	0	0	1	0	14	14	0.5
F5	2153	broad.mit.edu	37	1	169519912	169519912	+	Silent	SNP	A	A	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:169519912A>C	ENST00000367797.3	-	9	1563	c.1362T>G	c.(1360-1362)ccT>ccG	p.P454P	F5_ENST00000367796.3_Silent_p.P454P|F5_ENST00000546081.1_Silent_p.P317P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	454	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CATCTTCATAAGGCGAGAAGG	0.393																																						ENST00000367796.3											0			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1360-1362)ccT>ccG	coagulation factor V (proaccelerin, labile factor)						99.0	97.0	97.0					1																	169519912		2203	4300	6503	SO:0001819	synonymous_variant	2153			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519912A>C	M14335	M14335	CCDS1281.1	CCDS1281.1	1q23	2012-10-02			2012-10-02			ENSG00000198734	ENSG00000198734	ENSG00000198734	ENSG00000198734				3542	3542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612309	612309								Standard	Standard	NM_000130	NM_000130		Approved		uc001ggg.1	uc001ggg.1	P12259	P12259	OTTHUMG00000034595	OTTHUMG00000034595	ENST00000367797.3:c.1362T>G	1.37:g.169519912A>C			F5_ENST00000546081.1_Silent_p.P317P|F5_ENST00000367797.3_Silent_p.P454P	p.P454P			P12259	FA5_HUMAN			9	1563	-	all_hematologic(923;0.208)		454	F5/8 type A 2.|Plastocyanin-like 3.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1362T>G	CCDS1281.1																																																																																									0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		-5.725384	3	3	84	84	NM_000130		3	6.606547	6.606547	55	0.051724	0	0	0	1	0	3	55	0.051724
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	10	Substitution - Missense(10)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)cGg>cAg	protein phosphatase 2, regulatory subunit A, alpha						75.0	60.0	65.0					19																	52715983		2203	4300	6503	SO:0001583	missense	5518			ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A			CCDS12849.1	CCDS12849.1	19q13	2010-06-18	2010-04-14		2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	9302	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""		"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""					Standard	Standard	NR_033500	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	uc002pyp.3	P30153	P30153	OTTHUMG00000137367	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln		PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	p.R183Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	606	+			183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	0	PPP2R1A	57407795	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		44.711454	7	7	61	61	NM_014225		15	45.944544	45.944544	31	0.326087	0	0	0	1	0	15	31	0.326087
LAMA2	3908	broad.mit.edu	37	6	129663539	129663539	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr6:129663539T>C	ENST00000421865.2	+	30	4412	c.4363T>C	c.(4363-4365)Tac>Cac	p.Y1455H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1455	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCTCTTGGATACTATGGAAT	0.373																																						ENST00000421865.2											0			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4363-4365)Tac>Cac	laminin, alpha 2						164.0	151.0	156.0					6																	129663539		2203	4300	6503	SO:0001583	missense	3908			cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129663539T>C	Z26653	Z26653	CCDS5138.1	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	ENSG00000196569	ENSG00000196569		"""Laminins"""	"""Laminins"""	6482	6482	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	"""merosin"", ""congenital muscular dystrophy"""	156225	156225		LAMM		LAMM		2185464, 8294519	2185464, 8294519	Standard	Standard	NM_000426	NM_000426		Approved		uc003qbn.3	uc003qbn.3	P24043	P24043	OTTHUMG00000015545	OTTHUMG00000015545	ENST00000421865.2:c.4363T>C	6.37:g.129663539T>C	ENSP00000400365:p.Tyr1455His			p.Y1455H	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	30	4412	+			1455	Laminin EGF-like 15.	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4363T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489778	0.84962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.71817	-0.6	5.57	5.57	0.84162	5.57	5.57	0.84162	EGF-like, laminin (4);	0.064450	0.64402	D	0.000007	T	0.78698	0.4324	M	0.71581	2.175	0.45464	D	0.998434	D;D	0.71674	0.998;0.993	D;D	0.68483	0.958;0.942	T	0.80681	-0.1274	10	0.54805	T	0.06	.	15.0157	0.71581	0.0:0.0:0.0:1.0	.	1455;1455	A6NF00;P24043	.;LAMA2_HUMAN	H	1455	ENSP00000400365:Y1455H	ENSP00000346769:Y1455H	Y	+	1	0	0	LAMA2	129705232	129705232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.248000	0.74166	0.533000	0.62120	TAC		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		61.718279	10	10	109	109			22	65.046403	65.046403	56	0.282051	0	0	0	1	0	22	56	0.282051
SRSF2	6427	broad.mit.edu	37	17	74732943	74732969	+	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_472	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	c.(274-300)tacggccgccccccggactcacaccacdel	p.YGRPPDSHH92del	MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.736			Mis		"""MDS, CLL"""																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	189	Substitution - Missense(158)|Deletion - In frame(23)|Unknown(6)|Complex - insertion inframe(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(189)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(274-300)tacggccgccccccggactcacaccacdel	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	"""SR splicing factor 2"""	600813	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	17.37:g.74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His100del		MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del	p.YGRPPDSHH92del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	446_472	-			92	RRM.	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	CCDS11749.1																																																																																									0.736	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-3	-3	31	31	NM_003016		7			28	0.20						7	28	0.2
MAPKAPK5	8550	broad.mit.edu	37	12	112330858	112330858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr12:112330858delC	ENST00000551404.2	+	14	1523	c.1415delC	c.(1414-1416)tccfs	p.S472fs	MAPKAPK5_ENST00000550735.2_Frame_Shift_Del_p.S470fs			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	472					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCCCACGAATCCCAATAATGA	0.303																																						ENST00000550735.2											0			endometrium(1)|lung(11)|ovary(1)	13						c.(1408-1410)tccfs	mitogen-activated protein kinase-activated protein kinase 5						71.0	69.0	70.0					12																	112330858		1853	4096	5949	SO:0001589	frameshift_variant	8550			signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112330858delC	AF032437	AF032437	CCDS44975.1, CCDS44976.1	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			2012-05-30			ENSG00000089022	ENSG00000089022	ENSG00000089022	ENSG00000089022				6889	6889	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606723	606723						9628874	9628874	Standard	Standard	NM_003668	NM_003668		Approved	PRAK	uc001tta.4	uc001tta.4	Q8IW41	Q8IW41	OTTHUMG00000169605	OTTHUMG00000169605	ENST00000551404.2:c.1415delC	12.37:g.112330858delC	ENSP00000449381:p.Ser472fs		MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.S472fs	p.S470fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			14	2165	+			472		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Frame_Shift_Del	DEL	ENST00000551404.2	37	c.1409delC	CCDS44975.1																																																																																									0.303	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	.	.	-4	-4	4	4	NM_139078		2			4	0.33						2	4	0.33
