#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
CHD5	26038	broad.mit.edu	37	1	6214772	6214772	+	Silent	SNP	C	C	T	rs141326175		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:6214772C>T	ENST00000262450.3	-	5	792	c.693G>A	c.(691-693)ccG>ccA	p.P231P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCACCTGCGGGGGGCTGA	0.687																																						ENST00000262450.3											0			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(691-693)ccG>ccA	chromodomain helicase DNA binding protein 5	C		0,4360		0,0,2180	25.0	21.0	22.0		693	2.8	1.0	1	dbSNP_134	22	3,8549		0,3,4273	no	coding-synonymous	CHD5	NM_015557.2		0,3,6453	TT,TC,CC		0.0351,0.0,0.0232		231/1955	6214772	3,12909	2180	4276	6456	SO:0001819	synonymous_variant	26038			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214772C>T	AF425231	AF425231	CCDS57.1	CCDS57.1	1p36.3	2013-01-28			2013-01-28			ENSG00000116254	ENSG00000116254	ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	16816	16816	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610771	610771						11889561, 12592387	11889561, 12592387	Standard	Standard	NM_015557	NM_015557		Approved		uc001amb.2	uc001amb.2	Q8TDI0	Q8TDI0	OTTHUMG00000000952	OTTHUMG00000000952	ENST00000262450.3:c.693G>A	1.37:g.6214772C>T			CHD5_ENST00000378021.1_5'UTR	p.P231P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	792	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	231		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.693G>A	CCDS57.1																																																																																									0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		86.569169	-5	-5	36	36	NM_015557		29	86.625299	86.625299	33	0.467742	0	0	0	1	0	29	33	0.467742
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						ENST00000361531.2											0			endometrium(1)|large_intestine(1)|lung(4)	6						c.(208-210)gCc>gTc	mitochondrial ribosomal protein L24						211.0	194.0	200.0					1																	156708205		2203	4300	6503	SO:0001583	missense	79590			translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	AB051341	CCDS1155.1	CCDS1155.1	1q23.1	2012-11-14			2012-11-14			ENSG00000143314	ENSG00000143314	ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	"""Mitochondrial ribosomal proteins / large subunits"""	14037	14037	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611836	611836								Standard	Standard	NM_145729	NM_145729		Approved	MRP-L18	uc001fpx.1	uc001fpx.1	Q96A35	Q96A35	OTTHUMG00000041296	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val		MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V	p.A70V			Q96A35	RM24_HUMAN			3	345	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70	KOW.	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	0	MRPL24	154974829	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1		-33.644007	-12	-12	162	162	NM_145729		4	6.688249	6.688249	157	0.024845	0	0	0	1	0	4	157	0.024845
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga	eukaryotic translation initiation factor 1A, X-linked						135.0	126.0	129.0					X																	20156735		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg		EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	225	-			8		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722807	0.68959	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	0	EIF1AX	20066656	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		125.655225	-34	-34	126	126			41	126.293036	126.293036	58	0.414141	0	0	0	1	0	41	58	0.414141
LINC01317	104355287	broad.mit.edu	37	2	33952778	33952778	+	lincRNA	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:33952778C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGGGAAGTTGCGCCAAAACAA	0.597																																						ENST00000366209.2											0																																																0						g.chr2:33952778C>T																																																		2.37:g.33952778C>T			MYADML_ENST00000474610.1_RNA								0	68	+						RNA	SNP	ENST00000366209.2	37																																																																																											0.597	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1		2.508308	-7	-7	20	20			3	6.543945	6.543945	24	0.111111	0	0	0	1	0	3	24	0.111111
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.4											0			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt	v-ets avian erythroblastosis virus E26 oncogene homolog 1						155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113			cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G			CCDS8475.1, CCDS44767.1, CCDS53724.1	CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954	ENSG00000134954	ENSG00000134954				3488	3488	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720	164720		EWSR2		EWSR2		1522903	1522903	Standard	Standard	NM_005238	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	uc001qej.2	P14921	P14921	OTTHUMG00000165799	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu		ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	241	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		PNT.	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	0	ETS1	127931453	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2		-8.734257	7	7	55	55	NM_005238		3	6.394711	6.394711	65	0.044118	0	0	0	1	0	3	65	0.044118
APC	324	broad.mit.edu	37	5	112170678	112170678	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr5:112170678T>G	ENST00000457016.1	+	15	2154	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	592	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTGAGTGCCTTATGGAATTT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1774-1776)Tta>Gta	adenomatous polyposis coli						179.0	149.0	159.0					5																	112170678		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170678T>G	M74088	M74088	CCDS4107.1	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	"""protein phosphatase 1, regulatory subunit 46"""	611731	611731	"""adenomatosis polyposis coli"""		"""adenomatosis polyposis coli"""			1651563	1651563	Standard	Standard	NM_001127511	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	uc003kpy.4	P25054	P25054	OTTHUMG00000128806	OTTHUMG00000128806	ENST00000457016.1:c.1774T>G	5.37:g.112170678T>G	ENSP00000413133:p.Leu592Val		APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron	p.L592V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2154	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	592	Leu-rich.	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1774T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477506	0.84640	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.93	4.77	0.60923	5.93	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.87172	0.6111	M	0.86651	2.83	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.59546	0.816;0.859	D	0.88373	0.2996	10	0.87932	D	0	-12.9742	11.7181	0.51666	0.0:0.0686:0.0:0.9314	.	594;592	Q4LE70;P25054	.;APC_HUMAN	V	592;574;592;592;592	ENSP00000413133:L592V;ENSP00000423224:L574V;ENSP00000257430:L592V;ENSP00000427089:L592V;ENSP00000423828:L592V	ENSP00000257430:L592V	L	+	1	2	2	APC	112198577	112198577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.077000	0.40990	0.533000	0.62120	TTA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		116.843499	-19	-19	75	75	NM_000038		38	116.868395	116.868395	41	0.481013	0	0	0	1	0	38	41	0.481013
ARPC2	10109	broad.mit.edu	37	2	219093472	219093472	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:219093472G>A	ENST00000295685.10	+	3	382	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	41					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTCGATGGGGTCCTCTATCA	0.413																																						ENST00000295685.10											0			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(121-123)Gtc>Atc	actin related protein 2/3 complex, subunit 2, 34kDa						105.0	104.0	105.0					2																	219093472		2203	4300	6503	SO:0001583	missense	10109			cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219093472G>A	AF006085	AF006085	CCDS2410.1	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466	ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	"""Actin related protein 2/3 complex subunits"""	705	705	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604224	604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""		"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	9359840, 9230079	Standard	Standard	NM_005731	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	uc002vhd.4	O15144	O15144	OTTHUMG00000133618	OTTHUMG00000133618	ENST00000295685.10:c.121G>A	2.37:g.219093472G>A	ENSP00000295685:p.Val41Ile		ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	3	382	+		Renal(207;0.0474)	41		Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.121G>A	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138944	0.77775	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.84082	2.675	0.80722	D	1	B	0.22211	0.066	B	0.18871	0.023	T	0.70960	-0.4730	9	0.54805	T	0.06	.	19.2755	0.94030	0.0:0.0:1.0:0.0	.	41	O15144	ARPC2_HUMAN	I	41	.	ENSP00000295685:V41I	V	+	1	0	0	ARPC2	218801717	218801717	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	GTC		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2		61.196109	-14	-14	43	43	NM_005731		20	61.2169	61.216900	22	0.476190	0	0	0	1	0	20	22	0.47619
SNAPC4	6621	broad.mit.edu	37	9	139276418	139276418	+	Missense_Mutation	SNP	C	C	A	rs201265450		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:139276418C>A	ENST00000298532.2	-	17	2543	c.2175G>T	c.(2173-2175)caG>caT	p.Q725H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.Q725H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGCCCACTCTGGGTGGCTC	0.677																																						ENST00000298532.2											1	Substitution - Missense(1)	lung(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(2173-2175)caG>caT	small nuclear RNA activating complex, polypeptide 4, 190kDa						21.0	22.0	21.0					9																	139276418		2197	4292	6489	SO:0001583	missense	6621			snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139276418C>A	AF032387	AF032387	CCDS6998.1	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684	ENSG00000165684	ENSG00000165684				11137	11137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602777	602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""		"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	9418884	Standard	Standard	XM_005266096	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	uc004chh.3	Q5SXM2	Q5SXM2	OTTHUMG00000020929	OTTHUMG00000020929	ENST00000298532.2:c.2175G>T	9.37:g.139276418C>A	ENSP00000298532:p.Gln725His			p.Q725H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	17	2543	-		Myeloproliferative disorder(178;0.0511)	725			Missense_Mutation	SNP	ENST00000298532.2	37	c.2175G>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912303	0.33721	.	.	ENSG00000165684	ENST00000298532	T	0.25912	1.77	4.08	2.21	0.28008	4.08	2.21	0.28008	.	8.448780	0.00559	N	0.000277	T	0.28797	0.0714	L	0.43152	1.355	0.09310	N	1	P	0.51653	0.947	P	0.44732	0.459	T	0.16837	-1.0389	10	0.49607	T	0.09	-6.1184	7.2401	0.26092	0.0:0.789:0.0:0.211	.	725	Q5SXM2	SNPC4_HUMAN	H	725	ENSP00000298532:Q725H	ENSP00000298532:Q725H	Q	-	3	2	2	SNAPC4	138396239	138396239	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.235000	0.09016	0.198000	0.20407	0.462000	0.41574	CAG		0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		35.055769	12	12	26	26	NM_003086		13	35.174223	35.174223	17	0.433333	1	0	0.000151284	1	0.000156012	13	17	0.433333
DNAH10	196385	broad.mit.edu	37	12	124257432	124257432	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr12:124257432C>T	ENST00000409039.3	+	4	290	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	89	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCTGTACCCCTCTTCCCGA	0.458																																						ENST00000409039.3											0			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(265-267)Cct>Tct	dynein, axonemal, heavy chain 10						175.0	171.0	172.0					12																	124257432		1953	4159	6112	SO:0001583	missense	196385			microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124257432C>T	AJ132089	AJ132089	CCDS9255.2	CCDS9255.2	12q24	2008-02-05	2006-09-04		2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2941	2941	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605884	605884	"""dynein, axonemal, heavy polypeptide 10"""		"""dynein, axonemal, heavy polypeptide 10"""					Standard	Standard	NM_207437	NM_207437		Approved	FLJ43808	uc001uft.4	uc001uft.4	Q8IVF4	Q8IVF4	OTTHUMG00000154477	OTTHUMG00000154477	ENST00000409039.3:c.265C>T	12.37:g.124257432C>T	ENSP00000386770:p.Pro89Ser			p.P89S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	4	290	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		89	Stem (By similarity).	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.265C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	2.619	-0.288952	0.05605	.	.	ENSG00000197653	ENST00000409039	T	0.20069	2.1	5.93	3.86	0.44501	5.93	3.86	0.44501	.	.	.	.	.	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38542	-0.9656	9	0.07482	T	0.82	.	4.2262	0.10582	0.0:0.5848:0.1886:0.2266	.	89	Q8IVF4	DYH10_HUMAN	S	89	ENSP00000386770:P89S	ENSP00000386770:P89S	P	+	1	0	0	DNAH10	122823385	122823385	0.000000	0.05858	0.061000	0.19648	0.003000	0.03518	0.485000	0.22324	1.487000	0.48415	0.655000	0.94253	CCT		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		-33.147555	-20	-20	98	98			4	7.471722	7.471722	158	0.024691	0	0	0	1	0	4	158	0.024691
LILRA3	11026	broad.mit.edu	37	19	54802705	54802705	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr19:54802705A>T	ENST00000251390.3	-	5	827	c.736T>A	c.(736-738)Tgt>Agt	p.C246S	LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S|LILRA3_ENST00000391745.1_Missense_Mutation_p.C263S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	246	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGAGCCACACTGGAAGGTC	0.602																																						ENST00000391745.1											0			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(787-789)Tgt>Agt	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3						66.0	60.0	62.0					19																	54802705		2193	4153	6346	SO:0001583	missense	0						g.chr19:54802705A>T	U91926	U91926			19q13.4	2013-01-11			2013-01-11								"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	6604	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604818	604818						9278324, 9548455	9278324, 9548455	Standard	Standard	XM_006710242	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e			Q8N6C8	Q8N6C8			ENST00000251390.3:c.736T>A	19.37:g.54802705A>T	ENSP00000251390:p.Cys246Ser		LILRA3_ENST00000251390.3_Missense_Mutation_p.C246S|LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S	p.C263S						GBM - Glioblastoma multiforme(193;0.105)	9	1103	-	Ovarian(34;0.19)				J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.787T>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984695	0.35036	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	D;D;D	0.94537	-3.45;-3.45;-3.45	1.79	0.7	0.18099	1.79	0.7	0.18099	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324006	0.22997	N	0.053132	D	0.98046	0.9356	H	0.99770	4.765	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91919	0.5546	10	0.72032	D	0.01	.	4.6785	0.12724	0.6648:0.3352:0.0:0.0	.	246;246	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	246;182;263	ENSP00000251390:C246S;ENSP00000375624:C182S;ENSP00000375625:C263S	ENSP00000251390:C246S	C	-	1	0	0	LILRA3	59494517	59494517	0.000000	0.05858	0.019000	0.16419	0.027000	0.11550	0.149000	0.16243	0.159000	0.19401	0.473000	0.43528	TGT		0.602	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		51.506625	2	2	64	64			19	52.552832	52.552832	35	0.351852	0	0	0	1	0	19	35	0.351852
SHPK	23729	broad.mit.edu	37	17	3513993	3513993	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr17:3513993G>A	ENST00000225519.3	-	7	1400	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	433					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCTGGACAGCGCACTCCCACT	0.612																																						ENST00000225519.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1297-1299)gCg>gTg	sedoheptulokinase						158.0	155.0	156.0					17																	3513993		2203	4300	6503	SO:0001583	missense	23729			carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3513993G>A	AF163573	AF163573	CCDS11030.1	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	ENSG00000197417	ENSG00000197417	2.7.1.14			1492	1492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605060	605060	"""carbohydrate kinase-like"""	CARKL	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	10673275, 18186520	Standard	Standard	NM_013276	NM_013276		Approved	SHK	uc002fvz.1	uc002fvz.1	Q9UHJ6	Q9UHJ6	OTTHUMG00000090694	OTTHUMG00000090694	ENST00000225519.3:c.1298C>T	17.37:g.3513993G>A	ENSP00000225519:p.Ala433Val			p.A433V	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1400	-			433		B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1298C>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037917	0.93630	.	.	ENSG00000197417	ENST00000225519	T	0.13420	2.59	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	P	0.52454	0.699	T	0.22591	-1.0212	10	0.56958	D	0.05	-19.7998	16.9394	0.86213	0.0:0.0:1.0:0.0	.	433	Q9UHJ6	SHPK_HUMAN	V	433	ENSP00000225519:A433V	ENSP00000225519:A433V	A	-	2	0	0	SHPK	3460742	3460742	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.626000	0.90969	2.314000	0.78098	0.563000	0.77884	GCG		0.612	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		184.904621	-45	-45	105	105			60	184.95215	184.952150	55	0.521739	0	0	0	1	0	60	55	0.521739
KRCC1	51315	broad.mit.edu	37	2	88327530	88327530	+	Missense_Mutation	SNP	C	C	T	rs61734751	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:88327530C>T	ENST00000347055.3	-	4	946	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	185	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCAATTTCCTCGCAGCTTTTT	0.408													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17888	0.0		0.0	False		,,,				2504	0.0					ENST00000347055.3											0			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(553-555)Gag>Aag	lysine-rich coiled-coil 1	C	LYS/GLU	24,4382	31.7+/-61.6	0,24,2179	117.0	125.0	122.0		553	5.1	0.8	2	dbSNP_129	122	0,8600		0,0,4300	yes	missense	KRCC1	NM_016618.1	56	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	possibly-damaging	185/260	88327530	24,12982	2203	4300	6503	SO:0001583	missense	51315						g.chr2:88327530C>T	AF208845	AF208845	CCDS2000.1	CCDS2000.1	2p11.2	2008-02-05			2008-02-05			ENSG00000172086	ENSG00000172086	ENSG00000172086	ENSG00000172086				28039	28039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	XM_005264360	XM_005264360		Approved	FLJ22333	uc002sso.1	uc002sso.1	Q9NPI7	Q9NPI7	OTTHUMG00000130315	OTTHUMG00000130315	ENST00000347055.3:c.553G>A	2.37:g.88327530C>T	ENSP00000340083:p.Glu185Lys			p.E185K	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	946	-			185	Lys-rich.	Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.553G>A	CCDS2000.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.21	2.467147	0.43839	0.005447	0.0	ENSG00000172086	ENST00000347055	T	0.35973	1.28	5.98	5.11	0.69529	5.98	5.11	0.69529	.	0.339027	0.28203	N	0.016202	T	0.50120	0.1597	M	0.71581	2.175	0.39798	D	0.97252	D	0.89917	1.0	D	0.77004	0.989	T	0.60601	-0.7231	10	0.56958	D	0.05	-21.1108	13.3095	0.60371	0.0:0.924:0.0:0.076	.	185	Q9NPI7	KRCC1_HUMAN	K	185	ENSP00000340083:E185K	ENSP00000340083:E185K	E	-	1	0	0	KRCC1	88108645	88108645	0.996000	0.38824	0.813000	0.32504	0.004000	0.04260	3.835000	0.55805	1.548000	0.49413	-0.133000	0.14855	GAG		0.408	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1		54.738919	-22	-22	135	135	NM_016618		21	59.160782	59.160782	61	0.256098	0	0	0	1	0	21	61	0.256098
PTGER2	5732	broad.mit.edu	37	14	52781318	52781318	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:52781318T>C	ENST00000245457.5	+	1	206	c.52T>C	c.(52-54)Tgg>Cgg	p.W18R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	18					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACGCGACAGTGGCTTCCCCC	0.652																																						ENST00000245457.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(52-54)Tgg>Cgg	prostaglandin E receptor 2 (subtype EP2), 53kDa						18.0	22.0	21.0					14																	52781318		2196	4292	6488	SO:0001583	missense	5732				integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781318T>C			CCDS9708.1	CCDS9708.1	14q22	2012-08-08	2002-08-29		2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384	ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	"""GPCR / Class A : Prostanoid receptors"""	9594	9594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176804	176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""		"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	8250933, 7759114	Standard	Standard	NM_000956	NM_000956		Approved	EP2	uc001wzr.3	uc001wzr.3	P43116	P43116	OTTHUMG00000140300	OTTHUMG00000140300	ENST00000245457.5:c.52T>C	14.37:g.52781318T>C	ENSP00000245457:p.Trp18Arg		PTGER2_ENST00000557436.1_Intron	p.W18R	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	206	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		18		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.52T>C	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881161	0.33255	.	.	ENSG00000125384	ENST00000245457	D	0.83837	-1.77	5.04	2.6	0.31112	5.04	2.6	0.31112	.	0.763029	0.13124	N	0.412005	T	0.76793	0.4037	M	0.73598	2.24	0.28614	N	0.908536	B	0.31730	0.337	B	0.23574	0.047	T	0.64330	-0.6433	10	0.26408	T	0.33	-0.9863	4.4199	0.11476	0.1725:0.0952:0.0:0.7323	.	18	P43116	PE2R2_HUMAN	R	18	ENSP00000245457:W18R	ENSP00000245457:W18R	W	+	1	0	0	PTGER2	51851068	51851068	0.003000	0.15002	0.795000	0.32087	0.935000	0.57460	0.999000	0.29757	0.322000	0.23283	0.397000	0.26171	TGG		0.652	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1		34.662236	6	6	25	25			13	35.384074	35.384074	24	0.351351	0	0	0	1	0	13	24	0.351351
RELN	5649	broad.mit.edu	37	7	103205756	103205756	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr7:103205756G>C	ENST00000428762.1	-	34	5338	c.5179C>G	c.(5179-5181)Cgg>Ggg	p.R1727G	RELN_ENST00000343529.5_Missense_Mutation_p.R1727G|RELN_ENST00000424685.2_Missense_Mutation_p.R1727G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R1727W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGTGATCCGCTTCCAATTC	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2											1	Substitution - Missense(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5179-5181)Cgg>Ggg	reelin						123.0	111.0	115.0					7																	103205756		2203	4300	6503	SO:0001583	missense	5649			axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205756G>C			CCDS34722.1, CCDS47680.1	CCDS34722.1, CCDS47680.1	7q22	2008-07-18			2008-07-18			ENSG00000189056	ENSG00000189056	ENSG00000189056	ENSG00000189056				9957	9957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600514	600514						9049633	9049633	Standard	Standard	NM_005045	NM_005045		Approved	RL, PRO1598	uc010liz.3	uc010liz.3	P78509	P78509	OTTHUMG00000157247	OTTHUMG00000157247	ENST00000428762.1:c.5179C>G	7.37:g.103205756G>C	ENSP00000392423:p.Arg1727Gly		RELN_ENST00000428762.1_Missense_Mutation_p.R1727G|RELN_ENST00000343529.5_Missense_Mutation_p.R1727G	p.R1727G			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5338	-			1727		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5179C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090837	0.76756	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50813	1.34;0.73;1.34	6.02	4.09	0.47781	6.02	4.09	0.47781	Neuraminidase (1);	0.053048	0.64402	D	0.000001	T	0.70272	0.3205	M	0.84585	2.705	0.48341	D	0.999639	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.979	T	0.76160	-0.3061	10	0.87932	D	0	.	12.891	0.58071	0.0:0.0:0.4962:0.5038	.	1727;1727	P78509-2;P78509	.;RELN_HUMAN	G	1727	ENSP00000392423:R1727G;ENSP00000345694:R1727G;ENSP00000388446:R1727G	ENSP00000345694:R1727G	R	-	1	2	2	RELN	102992992	102992992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.045000	0.49838	1.518000	0.48934	0.655000	0.94253	CGG		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		-10.267851	-23	-23	51	51	NM_005045		4	8.58709	8.587090	82	0.046512	0	0	0	1	0	4	82	0.046512
EPC2	26122	broad.mit.edu	37	2	149528843	149528843	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:149528843A>G	ENST00000258484.6	+	10	1641	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	536					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CTAAATTTACAGGACAGTGAT	0.383																																						ENST00000258484.6											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1606-1608)cAg>cGg	enhancer of polycomb homolog 2 (Drosophila)						122.0	117.0	118.0					2																	149528843		1884	4100	5984	SO:0001583	missense	26122			chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528843A>G	AF286904	AF286904	CCDS46422.1	CCDS46422.1	2q23	2008-02-05			2008-02-05			ENSG00000135999	ENSG00000135999	ENSG00000135999	ENSG00000135999				24543	24543	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611000	611000								Standard	Standard	NM_015630	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	uc010zbt.2	Q52LR7	Q52LR7	OTTHUMG00000153739	OTTHUMG00000153739	ENST00000258484.6:c.1607A>G	2.37:g.149528843A>G	ENSP00000258484:p.Gln536Arg			p.Q536R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1641	+			536		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1607A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719089	0.48622	.	.	ENSG00000135999	ENST00000258484	T	0.18810	2.19	5.36	4.12	0.48240	5.36	4.12	0.48240	.	0.078676	0.53938	D	0.000047	T	0.17280	0.0415	L	0.40543	1.245	0.80722	D	1	B	0.26975	0.165	B	0.23574	0.047	T	0.04440	-1.0951	10	0.33141	T	0.24	-2.1473	12.2419	0.54546	0.8581:0.1419:0.0:0.0	.	536	Q52LR7	EPC2_HUMAN	R	536	ENSP00000258484:Q536R	ENSP00000258484:Q536R	Q	+	2	0	0	EPC2	149245313	149245313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.598000	0.54038	2.140000	0.66376	0.460000	0.39030	CAG		0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1		135.162543	1	1	71	71	NM_015630		45	135.34082	135.340820	54	0.454545	0	0	0	1	0	45	54	0.454545
ELMO2	63916	broad.mit.edu	37	20	45014869	45014869	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr20:45014869G>C	ENST00000290246.6	-	9	765	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000372176.1_Missense_Mutation_p.Q103E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	191					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGACCTCTGAAGGATTGAC	0.527																																						ENST00000372176.1											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(307-309)Cag>Gag	engulfment and cell motility 2						134.0	119.0	124.0					20																	45014869		2203	4300	6503	SO:0001583	missense	63916			apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45014869G>C	AF398886	AF398886	CCDS13398.1	CCDS13398.1	20q13	2010-03-18	2006-01-20		2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598	ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	"""Engulfment and cell motility proteins"""	17233	17233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606421	606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""		"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	11595183	Standard	Standard	NM_133171	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	uc002xru.1	Q96JJ3	Q96JJ3	OTTHUMG00000033070	OTTHUMG00000033070	ENST00000290246.6:c.571C>G	20.37:g.45014869G>C	ENSP00000290246:p.Gln191Glu		ELMO2_ENST00000290246.6_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E	p.Q103E			Q96JJ3	ELMO2_HUMAN			9	775	-		Myeloproliferative disorder(115;0.0122)	191		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.307C>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292915	0.60086	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000450812	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;1.66;0.96;0.96	4.85	4.85	0.62838	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.60455	1.87	0.80722	D	1	B;P;P	0.37370	0.127;0.592;0.592	B;B;B	0.37091	0.173;0.241;0.241	T	0.27400	-1.0075	10	0.24483	T	0.36	-26.912	17.1413	0.86754	0.0:0.0:1.0:0.0	.	191;191;191	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	E	191;103;191;191;8;189;191	ENSP00000290246:Q191E;ENSP00000361249:Q103E;ENSP00000379673:Q191E;ENSP00000396519:Q191E;ENSP00000409920:Q8E;ENSP00000326172:Q189E;ENSP00000416181:Q191E	ENSP00000290246:Q191E	Q	-	1	0	0	ELMO2	44448276	44448276	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.526000	0.85167	0.591000	0.81541	CAG		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		60.037340	4	4	82	82	NM_022086		21	63.625109	63.625109	56	0.272727	0	0	0	1	0	21	56	0.272727
DNAJC8	22826	broad.mit.edu	37	1	28555506	28555506	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:28555506A>G	ENST00000263697.4	-	2	133	c.107T>C	c.(106-108)gTt>gCt	p.V36A	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTTAGAACCGAGTCTCT	0.353																																						ENST00000263697.4											0			kidney(1)|large_intestine(3)|lung(2)	6						c.(106-108)gTt>gCt	DnaJ (Hsp40) homolog, subfamily C, member 8						106.0	93.0	97.0					1																	28555506		1821	4088	5909	SO:0001583	missense	22826			nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28555506A>G	AF083190	AF083190	CCDS41292.1	CCDS41292.1	1p35	2011-09-02			2011-09-02			ENSG00000126698	ENSG00000126698	ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	"""Heat shock proteins / DNAJ (HSP40)"""	15470	15470	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11147971	11147971	Standard	Standard	NM_014280	NM_014280		Approved	SPF31	uc001bpn.3	uc001bpn.3	O75937	O75937	OTTHUMG00000003538	OTTHUMG00000003538	ENST00000263697.4:c.107T>C	1.37:g.28555506A>G	ENSP00000263697:p.Val36Ala		DNAJC8_ENST00000489277.1_5'UTR	p.V36A	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	2	133	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	36		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.107T>C	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628755	0.67015	.	.	ENSG00000126698	ENST00000263697	T	0.20463	2.07	5.16	5.16	0.70880	5.16	5.16	0.70880	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.51422	1.61	0.80722	D	1	P	0.47545	0.897	P	0.45794	0.493	T	0.01762	-1.1279	10	0.29301	T	0.29	-28.1862	13.9683	0.64223	1.0:0.0:0.0:0.0	.	36	O75937	DNJC8_HUMAN	A	36	ENSP00000263697:V36A	ENSP00000263697:V36A	V	-	2	0	0	DNAJC8	28428093	28428093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.670000	0.83925	1.948000	0.56530	0.459000	0.35465	GTT		0.353	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1		137.617233	-8	-8	80	80	NM_014280		43	137.80239	137.802390	52	0.452632	0	0	0	1	0	43	52	0.452632
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		165.651661	-35	-35	77	77	NM_002072		50	165.734665	165.734665	44	0.531915	0	0	0	1	0	50	44	0.531915
ST6GAL2	84620	broad.mit.edu	37	2	107459605	107459605	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:107459605G>A	ENST00000409382.3	-	2	1439	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	277					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCAGGCGCCGCCAGCCCAGC	0.731																																						ENST00000409382.3											0			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(829-831)Cgg>Tgg	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2						4.0	6.0	5.0					2																	107459605		1647	3523	5170	SO:0001583	missense	84620			growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459605G>A	AB059555	AB059555	CCDS2073.1, CCDS46380.1	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	ENSG00000144057	ENSG00000144057	2.4.99.2			10861	10861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608472	608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2				Standard	Standard	NM_032528	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	uc002tdr.3	Q96JF0	Q96JF0	OTTHUMG00000130923	OTTHUMG00000130923	ENST00000409382.3:c.829C>T	2.37:g.107459605G>A	ENSP00000386942:p.Arg277Trp		ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W	p.R277W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1439	-			277		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.829C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972296	0.74246	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31247	1.5;1.5;1.5	4.72	3.84	0.44239	4.72	3.84	0.44239	.	1.117690	0.06782	N	0.785500	T	0.50803	0.1637	L	0.61218	1.895	0.37477	D	0.915859	D;D	0.76494	0.999;0.996	P;P	0.58970	0.711;0.849	T	0.36696	-0.9737	10	0.66056	D	0.02	-5.3243	12.1198	0.53885	0.0:0.5885:0.4115:0.0	.	277;277	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	W	277	ENSP00000355273:R277W;ENSP00000386942:R277W;ENSP00000387332:R277W	ENSP00000355273:R277W	R	-	1	2	2	ST6GAL2	106826037	106826037	0.997000	0.39634	0.899000	0.35326	0.562000	0.35680	2.060000	0.41394	1.108000	0.41662	0.563000	0.77884	CGG		0.731	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		13.971455	5	5	9	9	NM_032528		5	14.257919	14.257919	2	0.714286	0	0	0	1	0	5	2	0.714286
AMOTL2	51421	broad.mit.edu	37	3	134076564	134076564	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr3:134076564C>T	ENST00000422605.2	-	10	2489	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000514516.1_Missense_Mutation_p.V833M|RPL39P5_ENST00000273411.2_RNA			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	775					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTATCTCCACCATGTCTGAC	0.507																																						ENST00000514516.1											0			endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2497-2499)Gtg>Atg	angiomotin like 2						230.0	188.0	202.0					3																	134076564		2203	4300	6503	SO:0001583	missense	51421						g.chr3:134076564C>T	AF175966	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			2008-07-18			ENSG00000114019	ENSG00000114019	ENSG00000114019	ENSG00000114019				17812	17812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658	614658								Standard	Standard	NM_016201	NM_016201		Approved	LCCP	uc003eqg.1	uc003eqg.1	Q9Y2J4	Q9Y2J4	OTTHUMG00000159777	OTTHUMG00000159777	ENST00000422605.2:c.2323G>A	3.37:g.134076564C>T	ENSP00000409999:p.Val775Met		AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.V775M	p.V833M	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			10	2675	-			775		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.2497G>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.621815	0.87460	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25085	1.88;1.87;1.82;1.87	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.074219	0.52532	D	0.000068	T	0.48241	0.1489	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.47355	-0.9124	10	0.87932	D	0	-29.9867	18.9412	0.92605	0.0:1.0:0.0:0.0	.	773;776;833	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	M	776;775;833;773	ENSP00000249883:V776M;ENSP00000409999:V775M;ENSP00000424765:V833M;ENSP00000425475:V773M	ENSP00000249883:V776M	V	-	1	0	0	AMOTL2	135559254	135559254	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.472000	0.66768	2.450000	0.82876	0.655000	0.94253	GTG		0.507	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		152.358930	-36	-36	130	130	NM_016201		52	155.020087	155.020087	94	0.356164	0	0	0	1	0	52	94	0.356164
RASL12	51285	broad.mit.edu	37	15	65347374	65347374	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr15:65347374T>G	ENST00000220062.4	-	5	940	c.664A>C	c.(664-666)Aac>Cac	p.N222H	RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	222					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAGAGCGTGTTGAAGGTGCAG	0.682																																						ENST00000220062.4											0			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(664-666)Aac>Cac	RAS-like, family 12						39.0	36.0	37.0					15																	65347374		2202	4299	6501	SO:0001583	missense	51285			small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347374T>G	AF233588	AF233588	CCDS10200.1	CCDS10200.1	15q11.2-q22.33	2014-05-09			2014-05-09			ENSG00000103710	ENSG00000103710	ENSG00000103710	ENSG00000103710				30289	30289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Ras family member Ris"""	"""Ras family member Ris"""								12107412	12107412	Standard	Standard	NM_016563	NM_016563		Approved	RIS	uc002aoi.1	uc002aoi.1	Q9NYN1	Q9NYN1	OTTHUMG00000133115	OTTHUMG00000133115	ENST00000220062.4:c.664A>C	15.37:g.65347374T>G	ENSP00000220062:p.Asn222His		RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	p.N222H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN			5	940	-			222		B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.664A>C	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845022	0.32606	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80824	-0.39;-1.42;-0.28	4.94	3.8	0.43715	4.94	3.8	0.43715	.	0.163249	0.43747	D	0.000524	T	0.74076	0.3669	N	0.24115	0.695	0.31444	N	0.671621	B;D;B	0.55385	0.013;0.971;0.006	B;P;B	0.50440	0.005;0.641;0.008	T	0.76647	-0.2882	10	0.87932	D	0	.	9.3012	0.37847	0.0:0.0832:0.0:0.9168	.	211;203;222	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	H	222;203;211	ENSP00000220062:N222H;ENSP00000390028:N203H;ENSP00000412787:N211H	ENSP00000220062:N222H	N	-	1	0	0	RASL12	63134427	63134427	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.204000	0.42761	0.834000	0.34852	0.413000	0.27773	AAC		0.682	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2		41.843972	0	0	20	20	NM_016563		14	42.009271	42.009271	19	0.424242	0	0	0	1	0	14	19	0.424242
FOXG1	2290	broad.mit.edu	37	14	29236624	29236626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:29236624_29236626delCAC	ENST00000313071.4	+	1	338_340	c.139_141delCAC	c.(139-141)cacdel	p.H57del	RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_In_Frame_Del_p.H57del|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	57	His-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ccacccccagcaccaccaccacc	0.744																																						ENST00000382535.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(139-141)cacdel	forkhead box G1			130,3588		4,122,1733						1.2	0.0			27	280,6952		9,262,3345	no	coding	FOXG1	NM_005249.3		13,384,5078	A1A1,A1R,RR		3.8717,3.4965,3.7443				410,10540				SO:0001651	inframe_deletion	2290			axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236624_29236626delCAC			CCDS9636.1	CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	"""Forkhead boxes"""	3811	3811	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			164874	164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	7959731, 17260156	Standard	Standard	NM_005249	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	uc001wqe.4	P55316	P55316	OTTHUMG00000140187	OTTHUMG00000140187	ENST00000313071.4:c.139_141delCAC	14.37:g.29236633_29236635delCAC	ENSP00000339004:p.His57del		FOXG1_ENST00000313071.4_In_Frame_Del_p.H57del	p.H57del			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	508_510	+			57	His-rich.	A6NFY2|P55315|Q14488|Q86XT7	In_Frame_Del	DEL	ENST00000313071.4	37	c.139_141delCAC	CCDS9636.1																																																																																									0.744	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	.	.	-1	-1	15	15			2			4	0.33						2	4	0.33
HUWE1	10075	broad.mit.edu	37	X	53589168	53589170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:53589168_53589170delCTC	ENST00000342160.3	-	53	7697_7699	c.7240_7242delGAG	c.(7240-7242)gagdel	p.E2414del	HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2414	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGAGTGTGCTCCTCCTCATCC	0.493																																						ENST00000342160.3											0			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7240-7242)gagdel	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																			SO:0001651	inframe_deletion	10075			base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53589168_53589170delCTC	AB071605	AB071605	CCDS35301.1	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	ENSG00000086758	ENSG00000086758				30892	30892	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300697	300697	"""HECT, UBA and WWE domain containing 1"""		"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	9205841, 10998601	Standard	Standard	NM_031407	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	uc004dsp.4	Q7Z6Z7	Q7Z6Z7	OTTHUMG00000021617	OTTHUMG00000021617	ENST00000342160.3:c.7240_7242delGAG	X.37:g.53589174_53589176delCTC	ENSP00000340648:p.Glu2414del		HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del	p.E2414del			Q7Z6Z7	HUWE1_HUMAN			53	7697_7699	-			2414	Glu-rich.	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.7240_7242delGAG	CCDS35301.1																																																																																									0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	.	.	-5	-5	30	30	XM_497119		15			50	0.23						15	50	0.23
