#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ALDH18A1	5832	hgsc.bcm.edu;ucsc.edu	37	10	97371065	97371065	+	Silent	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr10:97371065G>A	ENST00000371224.2	-	16	2195	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	ALDH18A1_ENST00000371221.3_Silent_p.D684D	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	686	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TGTGGATGTGGTCAATGGCAT	0.517																																																	0													266.0	239.0	248.0					10																	97371065		2203	4300	6503	SO:0001819	synonymous_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2058C>T	10.37:g.97371065G>A		Somatic		WXS	SOLID	Phase_I	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																				0.517	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1		NM_002860	
ATP2B3	492	hgsc.bcm.edu	37	X	152811579	152811579	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chrX:152811579A>G	ENST00000349466.2	+	7	1276	c.950A>G	c.(949-951)cAg>cGg	p.Q317R	ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000263519.4_Missense_Mutation_p.Q317R|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.Q317R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	317					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTAGCCAGACCAAAGGT	0.637																																																	0													68.0	55.0	59.0					X																	152811579		2201	4300	6501	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.950A>G	X.37:g.152811579A>G	ENSP00000343886:p.Gln317Arg	Somatic		WXS	SOLID	Phase_I	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666216	0.14710	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93659	-3.26;-3.26;-3.26	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.358030	0.04967	N	0.463189	D	0.85509	0.5713	N	0.05230	-0.09	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.62982	-0.6738	10	0.07175	T	0.84	-6.205	12.7934	0.57547	1.0:0.0:0.0:0.0	.	317;317	Q16720;Q16720-2	AT2B3_HUMAN;.	R	317	ENSP00000343886:Q317R;ENSP00000352062:Q317R;ENSP00000263519:Q317R	ENSP00000263519:Q317R	Q	+	2	0	ATP2B3	152464773	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.993000	0.76245	1.659000	0.50751	0.352000	0.21897	CAG		0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1		NM_021949	
EFCAB12	90288	hgsc.bcm.edu;ucsc.edu	37	3	129140395	129140395	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr3:129140395C>T	ENST00000505956.1	-	2	463	c.301G>A	c.(301-303)Gac>Aac	p.D101N	EFCAB12_ENST00000326085.3_Missense_Mutation_p.D101N	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	101							calcium ion binding (GO:0005509)										GTCTTCCTGTCCTCTGGCTGC	0.562																																																	0													88.0	85.0	86.0					3																	129140395		1925	4137	6062	SO:0001583	missense	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.301G>A	3.37:g.129140395C>T	ENSP00000420854:p.Asp101Asn	Somatic		WXS	SOLID	Phase_I	Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380028	0.42207	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.16324	2.35;2.35	3.97	3.08	0.35506	.	0.589267	0.16015	N	0.233577	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	0.999998	B	0.12630	0.006	B	0.16722	0.016	T	0.28106	-1.0054	10	0.29301	T	0.29	-28.765	8.0543	0.30596	0.0:0.8875:0.0:0.1125	.	101	Q6NXP0	CC025_HUMAN	N	101	ENSP00000420854:D101N;ENSP00000324241:D101N	ENSP00000324241:D101N	D	-	1	0	C3orf25	130623085	0.013000	0.17824	0.299000	0.25016	0.808000	0.45660	0.462000	0.21956	1.219000	0.43474	0.655000	0.94253	GAC		0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1		NM_207307	
CCM2	83605	hgsc.bcm.edu	37	7	45113122	45113122	+	Missense_Mutation	SNP	C	C	A	rs371880014		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr7:45113122C>A	ENST00000258781.6	+	8	1016	c.867C>A	c.(865-867)agC>agA	p.S289R	CCM2_ENST00000474617.1_Missense_Mutation_p.S192R|CCM2_ENST00000475551.1_Missense_Mutation_p.S283R|CCM2_ENST00000541586.1_Missense_Mutation_p.S231R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Missense_Mutation_p.S198R|CCM2_ENST00000381112.3_Missense_Mutation_p.S310R	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	289	Harmonin homology domain.		S -> N (in dbSNP:rs2289366).		blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGTGAGAGCGAGCTGAGCG	0.627																																																	0													98.0	74.0	82.0					7																	45113122		2203	4300	6503	SO:0001583	missense	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.867C>A	7.37:g.45113122C>A	ENSP00000258781:p.Ser289Arg	Somatic		WXS	SOLID	Phase_I	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273202	0.59649	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.55	-10.1	0.00402	.	0.046850	0.85682	D	0.000000	T	0.55940	0.1952	M	0.79475	2.455	0.34190	D	0.671981	D;D;D;D	0.76494	0.996;0.999;0.969;0.992	D;D;P;P	0.69479	0.935;0.964;0.713;0.864	T	0.78375	-0.2228	10	0.49607	T	0.09	-27.8143	17.7759	0.88508	0.0:0.3427:0.0:0.6573	.	310;198;231;289	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	R	289;231;198;283;310;192	ENSP00000258781:S289R;ENSP00000444725:S231R;ENSP00000438035:S198R;ENSP00000417180:S283R;ENSP00000370503:S310R;ENSP00000419474:S192R	ENSP00000258781:S289R	S	+	3	2	CCM2	45079647	0.000000	0.05858	0.252000	0.24328	0.815000	0.46073	-3.026000	0.00640	-2.148000	0.00798	-1.053000	0.02334	AGC		0.627	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1		NM_031443	
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123169477	123169477	+	Missense_Mutation	SNP	G	G	C	rs374793213		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:123169477G>C	ENST00000349780.4	-	32	4955	c.4776C>G	c.(4774-4776)caC>caG	p.H1592Q	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1551Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1560Q|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1592					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGGAGGCTGTGCAGGTCCC	0.572																																																	0													79.0	72.0	75.0					9																	123169477		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4776C>G	9.37:g.123169477G>C	ENSP00000343818:p.His1592Gln	Somatic		WXS	SOLID	Phase_I	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769314	0.15983	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.21543	3.98;3.9;3.99;2.31;2.0	5.44	-6.71	0.01760	.	0.119134	0.37906	N	0.001891	T	0.13286	0.0322	L	0.41236	1.265	0.18873	N	0.999988	B;B;B;B	0.25048	0.082;0.091;0.117;0.082	B;B;B;B	0.25291	0.059;0.026;0.039;0.059	T	0.07328	-1.0778	10	0.46703	T	0.11	.	11.0202	0.47713	0.6292:0.0917:0.2791:0.0	.	602;1560;1592;986	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	Q	1560;1551;1592;986;602;1364	ENSP00000354065:H1560Q;ENSP00000352258:H1551Q;ENSP00000343818:H1592Q;ENSP00000400395:H986Q;ENSP00000409941:H602Q	ENSP00000341695:H1364Q	H	-	3	2	CDK5RAP2	122209298	0.002000	0.14202	0.456000	0.27044	0.724000	0.41520	-1.175000	0.03102	-1.269000	0.02436	-0.136000	0.14681	CAC		0.572	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249	
CHD3	1107	hgsc.bcm.edu	37	17	7802423	7802423	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr17:7802423T>A	ENST00000330494.7	+	14	2396	c.2246T>A	c.(2245-2247)tTc>tAc	p.F749Y	CHD3_ENST00000358181.4_Missense_Mutation_p.F749Y|CHD3_ENST00000380358.4_Missense_Mutation_p.F808Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	749	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGCTACGCTTCTCCTGGGCC	0.527																																																	0													131.0	123.0	126.0					17																	7802423		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2246T>A	17.37:g.7802423T>A	ENSP00000332628:p.Phe749Tyr	Somatic		WXS	SOLID	Phase_I	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652537	0.67472	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93604	-3.25;-3.25;-3.25	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.48286	D	0.000186	D	0.92456	0.7605	N	0.13272	0.32	0.58432	D	0.999999	D;D;D	0.69078	0.989;0.991;0.997	D;D;D	0.76071	0.969;0.982;0.987	D	0.90478	0.4458	10	0.16896	T	0.51	-16.152	15.8518	0.78937	0.0:0.0:0.0:1.0	.	749;749;808	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Y	808;749;749	ENSP00000369716:F808Y;ENSP00000350907:F749Y;ENSP00000332628:F749Y	ENSP00000332628:F749Y	F	+	2	0	CHD3	7743148	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.977000	0.88081	2.215000	0.71742	0.459000	0.35465	TTC		0.527	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273	
ACKR3	57007	hgsc.bcm.edu	37	2	237489859	237489859	+	Missense_Mutation	SNP	C	C	T	rs201845893		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:237489859C>T	ENST00000272928.3	+	2	1061	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	251					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCACAGCAGCCGGAAGATCAT	0.572																																																	0													119.0	100.0	106.0					2																	237489859		2203	4300	6503	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.751C>T	2.37:g.237489859C>T	ENSP00000272928:p.Arg251Trp	Somatic		WXS	SOLID	Phase_I	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536011	0.64972	.	.	ENSG00000144476	ENST00000272928	T	0.72051	-0.62	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.121195	0.56097	D	0.000028	T	0.81564	0.4849	M	0.83223	2.63	0.45554	D	0.998509	D	0.71674	0.998	P	0.60886	0.88	T	0.82934	-0.0211	9	.	.	.	.	10.3092	0.43699	0.1203:0.6109:0.2688:0.0	.	251	P25106	CXCR7_HUMAN	W	251	ENSP00000272928:R251W	.	R	+	1	2	CXCR7	237154598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	1.407000	0.46875	0.655000	0.94253	CGG		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2		NM_020311	
EPB42	2038	hgsc.bcm.edu	37	15	43498732	43498732	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr15:43498732C>A	ENST00000441366.2	-	10	1639	c.1414G>T	c.(1414-1416)Gcc>Tcc	p.A472S	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Missense_Mutation_p.A502S|EPB42_ENST00000540029.1_Missense_Mutation_p.A394S	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	472					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGAGGACTGGCAGTCTCGAGA	0.537																																																	0													177.0	166.0	170.0					15																	43498732		2203	4299	6502	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1414G>T	15.37:g.43498732C>A	ENSP00000396616:p.Ala472Ser	Somatic		WXS	SOLID	Phase_I	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	0.480	-0.880322	0.02530	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.78816	-1.18;-1.21;-1.19	5.31	-0.706	0.11249	Transglutaminase, C-terminal (1);	1.551550	0.03130	N	0.165042	T	0.55178	0.1904	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27450	0.053;0.113;0.017;0.179	B;B;B;B	0.21708	0.013;0.033;0.02;0.036	T	0.47736	-0.9094	10	0.08837	T	0.75	5.8724	7.3315	0.26586	0.6006:0.3141:0.0:0.0853	.	394;472;502;472	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	S	502;394;472;400	ENSP00000300215:A502S;ENSP00000444699:A394S;ENSP00000396616:A472S	ENSP00000300215:A502S	A	-	1	0	EPB42	41286024	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.185000	0.09684	0.046000	0.15833	0.655000	0.94253	GCC		0.537	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1		NM_000119	
DENND6B	414918	hgsc.bcm.edu	37	22	50751529	50751529	+	Silent	SNP	G	G	C	rs67248662	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr22:50751529G>C	ENST00000413817.3	-	17	1427	c.1356C>G	c.(1354-1356)ccC>ccG	p.P452P	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	452					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCTGGATCTGGGGGGGAGTCT	0.632													g|||	1535	0.30651	0.236	0.3242	5008	,	,		13163	0.2669		0.2962	False		,,,				2504	0.4407																0										921,3213		97,727,1243	18.0	23.0	21.0		1356	0.6	1.0	22	dbSNP_130	21	2300,6000		340,1620,2190	no	coding-synonymous	FAM116B	NM_001001794.3		437,2347,3433	CC,CG,GG		27.7108,22.2787,25.9048		452/586	50751529	3221,9213	2067	4150	6217	SO:0001819	synonymous_variant	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1356C>G	22.37:g.50751529G>C		Somatic		WXS	SOLID	Phase_I	A6X8I5	Silent	SNP	ENST00000413817.3	37	CCDS46732.1																																																																																				0.632	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3		NM_001001794	
FER1L5	90342	hgsc.bcm.edu;ucsc.edu	37	2	97335947	97335947	+	RNA	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:97335947C>A	ENST00000457909.1	+	0	0							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAGACTCCACGATAAAGGAT	0.493																																																	0													133.0	106.0	114.0					2																	97335947		692	1591	2283			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97335947C>A		Somatic		WXS	SOLID	Phase_I	Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553647	0.03996	.	.	ENSG00000214272	ENST00000414152;ENST00000436930	.	.	.	4.57	-9.13	0.00704	.	.	.	.	.	T	0.03959	0.0111	N	0.00648	-1.295	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	7	0.02654	T	1	.	2.3187	0.04205	0.4317:0.2939:0.1136:0.1608	.	480	A0AVI2	FR1L5_HUMAN	K	480;473	.	ENSP00000444148:T480K	T	+	2	0	FER1L5	96699674	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.813000	0.00753	-3.285000	0.00196	-0.171000	0.13296	ACG		0.493	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1		NM_001077400	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319436	21319436	+	Missense_Mutation	SNP	G	G	A	rs77270326	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr17:21319436G>A	ENST00000583088.1	+	3	1677	c.782G>A	c.(781-783)cGc>cAc	p.R261H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R261H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	261				RI -> HS (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R261H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGCCTGGACCGCATCTTTCTG	0.627										Prostate(3;0.18)																																							1	Substitution - Missense(1)	lung(1)											127.0	94.0	105.0					17																	21319436		2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.782G>A	17.37:g.21319436G>A	ENSP00000463778:p.Arg261His	Somatic		WXS	SOLID	Phase_I	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973917	0.92919	.	.	ENSG00000184185	ENST00000331718	D	0.94537	-3.45	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98198	1.0466	10	0.72032	D	0.01	.	19.2333	0.93849	0.0:0.0:1.0:0.0	.	261	Q14500	IRK12_HUMAN	H	261	ENSP00000328150:R261H	ENSP00000328150:R261H	R	+	2	0	KCNJ12	21260029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.690000	0.98676	2.554000	0.86153	0.655000	0.94253	CGC		0.627	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
CAMSAP3	57662	hgsc.bcm.edu	37	19	7675369	7675369	+	Silent	SNP	C	C	T	rs62113420	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr19:7675369C>T	ENST00000160298.4	+	6	869	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CAMSAP3_ENST00000446248.2_Silent_p.C283C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	256	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGAGGTGTGCTTGAAGGACC	0.632													C|||	371	0.0740815	0.0862	0.0994	5008	,	,		14322	0.002		0.161	False		,,,				2504	0.0245																0								C	,	310,3818		16,278,1770	87.0	96.0	93.0		849,768	4.3	1.0	19	dbSNP_129	93	1141,7251		65,1011,3120	no	coding-synonymous,coding-synonymous	CAMSAP3	NM_001080429.2,NM_020902.1	,	81,1289,4890	TT,TC,CC		13.5963,7.5097,11.5895	,	283/1277,256/1250	7675369	1451,11069	2064	4196	6260	SO:0001819	synonymous_variant	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.768C>T	19.37:g.7675369C>T		Somatic		WXS	SOLID	Phase_I	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																				0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362	
MED13	9969	hgsc.bcm.edu	37	17	60088124	60088124	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr17:60088124G>A	ENST00000397786.2	-	9	1830	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	585					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTGGGAAAGACTGGGACAA	0.413																																																	0													137.0	122.0	127.0					17																	60088124		1876	4103	5979	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1754C>T	17.37:g.60088124G>A	ENSP00000380888:p.Ser585Phe	Somatic		WXS	SOLID	Phase_I	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487355	0.26686	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74632	-0.86	6.02	6.02	0.97574	.	0.160430	0.56097	D	0.000028	T	0.61413	0.2345	N	0.08118	0	0.34733	D	0.729935	P;B	0.41569	0.755;0.412	B;B	0.41813	0.367;0.054	T	0.65553	-0.6140	10	0.22109	T	0.4	-28.0651	20.547	0.99278	0.0:0.0:1.0:0.0	.	98;585	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	F	585;584	ENSP00000380888:S585F	ENSP00000262436:S584F	S	-	2	0	MED13	57442906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.634000	0.91002	2.850000	0.98022	0.650000	0.86243	TCT		0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178952077	178952077	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr3:178952077T>A	ENST00000263967.3	+	21	3289	c.3132T>A	c.(3130-3132)aaT>aaA	p.N1044K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1044	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N1044K(14)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AACAAATGAATGATGCACATC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	14	Substitution - Missense(14)	endometrium(7)|breast(3)|kidney(2)|ovary(1)|large_intestine(1)											99.0	89.0	92.0					3																	178952077		1910	4124	6034	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3132T>A	3.37:g.178952077T>A	ENSP00000263967:p.Asn1044Lys	Somatic		WXS	SOLID	Phase_I	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023845	0.54683	.	.	ENSG00000121879	ENST00000263967	T	0.81078	-1.45	6.08	3.62	0.41486	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	N	0.17723	0.515	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.67444	-0.5669	10	0.22706	T	0.39	-24.648	11.0342	0.47791	0.0:0.1289:0.0:0.8711	.	1044	P42336	PK3CA_HUMAN	K	1044	ENSP00000263967:N1044K	ENSP00000263967:N1044K	N	+	3	2	PIK3CA	180434771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.521000	0.35910	1.088000	0.41272	0.482000	0.46254	AAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
PLEKHA6	22874	hgsc.bcm.edu;ucsc.edu	37	1	204218082	204218082	+	Missense_Mutation	SNP	G	G	T	rs148948923	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr1:204218082G>T	ENST00000272203.3	-	12	2007	c.1691C>A	c.(1690-1692)gCc>gAc	p.A564D	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A584D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	564										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCCATCAAGGCACTTTCCAG	0.557																																																	0													45.0	45.0	45.0					1																	204218082		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1691C>A	1.37:g.204218082G>T	ENSP00000272203:p.Ala564Asp	Somatic		WXS	SOLID	Phase_I	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684386	0.68157	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.81415	-1.49;-1.49	4.84	4.84	0.62591	.	0.118661	0.56097	D	0.000030	D	0.87430	0.6175	M	0.63843	1.955	0.41349	D	0.987352	D	0.71674	0.998	D	0.63381	0.914	D	0.89316	0.3636	10	0.87932	D	0	-24.8014	17.5649	0.87917	0.0:0.0:1.0:0.0	.	564	Q9Y2H5	PKHA6_HUMAN	D	564;584	ENSP00000272203:A564D;ENSP00000402046:A584D	ENSP00000272203:A564D	A	-	2	0	PLEKHA6	202484705	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.698000	0.61789	2.245000	0.73994	0.650000	0.86243	GCC		0.557	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935	
PPIP5K1	9677	hgsc.bcm.edu	37	15	43827396	43827396	+	Missense_Mutation	SNP	C	C	T	rs201726786		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr15:43827396C>T	ENST00000396923.3	-	30	3899	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1233K|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.E1260K|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1235K|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1236K|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1235K|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1233K|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1256K			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1260					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TCAGGGACCTCCTGACATGGC	0.562																																																	0													104.0	102.0	102.0					15																	43827396		2201	4298	6499	SO:0001583	missense	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3778G>A	15.37:g.43827396C>T	ENSP00000380129:p.Glu1260Lys	Somatic		WXS	SOLID	Phase_I	O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738310	0.30774	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.25579	1.84;1.79;2.3;1.79;1.89;1.89;1.83;2.3	3.77	0.576	0.17380	.	0.190177	0.25397	N	0.030977	T	0.16727	0.0402	L	0.38175	1.15	0.26007	N	0.982048	B;B;B;B	0.22683	0.073;0.012;0.01;0.021	B;B;B;B	0.27380	0.079;0.014;0.033;0.033	T	0.15896	-1.0421	10	0.52906	T	0.07	-3.52	3.4439	0.07473	0.1528:0.4049:0.3442:0.0981	.	1233;1260;1257;1235	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	K	1256;1235;1233;1235;1260;1260;1235;1260;1236;1233;1022	ENSP00000371309:E1256K;ENSP00000353446:E1235K;ENSP00000353253:E1233K;ENSP00000334779:E1235K;ENSP00000380129:E1260K;ENSP00000400887:E1260K;ENSP00000371303:E1236K;ENSP00000308773:E1233K	ENSP00000304750:E1260K	E	-	1	0	PPIP5K1	41614688	0.544000	0.26441	0.565000	0.28409	0.982000	0.71751	0.120000	0.15647	0.008000	0.14787	0.462000	0.41574	GAG		0.562	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1		NM_014659	
RGAG1	57529	hgsc.bcm.edu;ucsc.edu	37	X	109696889	109696889	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chrX:109696889C>G	ENST00000465301.2	+	3	3290	c.3044C>G	c.(3043-3045)gCc>gGc	p.A1015G	RGAG1_ENST00000540313.1_Missense_Mutation_p.A1015G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1015										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGAAGGATGGCCACAGCGCCA	0.502																																																	0													214.0	186.0	196.0					X																	109696889		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3044C>G	X.37:g.109696889C>G	ENSP00000419786:p.Ala1015Gly	Somatic		WXS	SOLID	Phase_I	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043760	0.08196	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.54071	0.59;0.59	4.24	2.47	0.30058	.	1.230940	0.06323	N	0.704870	T	0.44329	0.1288	L	0.44542	1.39	0.09310	N	1	B	0.33171	0.4	B	0.33960	0.173	T	0.33523	-0.9865	9	.	.	.	3.7113	5.9158	0.19053	0.0:0.7686:0.0:0.2314	.	1015	Q8NET4	RGAG1_HUMAN	G	1015;1015;576	ENSP00000419786:A1015G;ENSP00000441452:A1015G	.	A	+	2	0	RGAG1	109583545	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	1.276000	0.33156	0.534000	0.28695	0.600000	0.82982	GCC		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769	
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51172834	51172834	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr16:51172834C>A	ENST00000251020.4	-	2	3332	c.3299G>T	c.(3298-3300)aGt>aTt	p.S1100I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S1003I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1100					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTGTCCTTACTGTCCTGAGG	0.577																																					GBM(103;1352 1446 1855 4775 8890)												0													110.0	98.0	102.0					16																	51172834		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3299G>T	16.37:g.51172834C>A	ENSP00000251020:p.Ser1100Ile	Somatic		WXS	SOLID	Phase_I	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792816	0.31685	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.16	5.42	5.42	0.78866	.	0.189736	0.53938	D	0.000042	T	0.03915	0.0110	N	0.02539	-0.55	0.27577	N	0.949696	B	0.02656	0.0	B	0.04013	0.001	T	0.38243	-0.9670	10	0.23891	T	0.37	.	14.112	0.65126	0.1503:0.8497:0.0:0.0	.	1100	Q9NSC2	SALL1_HUMAN	I	1100;1003;1064	ENSP00000251020:S1100I;ENSP00000407914:S1003I	ENSP00000251020:S1100I	S	-	2	0	SALL1	49730335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.098000	0.31000	2.529000	0.85273	0.563000	0.77884	AGT		0.577	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SCRIB	23513	hgsc.bcm.edu	37	8	144877654	144877654	+	Missense_Mutation	SNP	T	T	G	rs148494356	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr8:144877654T>G	ENST00000320476.3	-	25	3656	c.3650A>C	c.(3649-3651)cAc>cCc	p.H1217P	SCRIB_ENST00000356994.2_Missense_Mutation_p.H1217P|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Missense_Mutation_p.H1136P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1217	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.H1217P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGTTCCGGTGGCCGATGCC	0.667													T|||	55	0.0109824	0.0015	0.0274	5008	,	,		15581	0.0		0.0249	False		,,,				2504	0.0092				Pancreas(51;966 1133 10533 14576 29674)												1	Substitution - Missense(1)	central_nervous_system(1)						T	PRO/HIS,PRO/HIS	11,4395	16.8+/-37.8	0,11,2192	35.0	34.0	34.0		3650,3650	2.7	1.0	8	dbSNP_134	34	139,8461	59.5+/-121.1	1,137,4162	yes	missense,missense	SCRIB	NM_015356.3,NM_182706.3	77,77	1,148,6354	GG,GT,TT		1.6163,0.2497,1.1533	benign,benign	1217/1631,1217/1656	144877654	150,12856	2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3650A>C	8.37:g.144877654T>G	ENSP00000322938:p.His1217Pro	Somatic		WXS	SOLID	Phase_I	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	32	0.014652014652014652	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	18	0.023746701846965697	T	12.38	1.921726	0.33908	0.002497	0.016163	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.35048	1.55;1.52;1.33	4.67	2.66	0.31614	.	.	.	.	.	T	0.07413	0.0187	L	0.36672	1.1	0.37800	D	0.927686	B;P	0.35923	0.393;0.528	B;B	0.40444	0.176;0.329	T	0.05683	-1.0870	9	0.52906	T	0.07	.	4.5952	0.12325	0.0:0.6169:0.0:0.3831	.	1217;1217	Q14160;Q14160-3	SCRIB_HUMAN;.	P	1217;1217;1136;586	ENSP00000349486:H1217P;ENSP00000322938:H1217P;ENSP00000366756:H1136P	ENSP00000322938:H1217P	H	-	2	0	SCRIB	144949642	0.998000	0.40836	0.991000	0.47740	0.408000	0.30992	3.296000	0.51802	0.259000	0.21709	0.454000	0.30748	CAC		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356	
SLC7A5	8140	hgsc.bcm.edu;ucsc.edu	37	16	87871508	87871508	+	Silent	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr16:87871508G>A	ENST00000261622.4	-	7	1148	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Silent_p.S95S	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	361					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TGGAGAGGATGGAGGGCAGGT	0.647																																																	0													125.0	101.0	110.0					16																	87871508		2197	4299	6496	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1083C>T	16.37:g.87871508G>A		Somatic		WXS	SOLID	Phase_I	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																				0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2		NM_003486	
SRBD1	55133	hgsc.bcm.edu;ucsc.edu	37	2	45774690	45774690	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:45774690C>G	ENST00000263736.4	-	13	1799	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	SRBD1_ENST00000535761.1_Missense_Mutation_p.E98D	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	579					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTTTATTTTCTCCGCCTCTC	0.343																																																	0													65.0	64.0	64.0					2																	45774690		2202	4299	6501	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1737G>C	2.37:g.45774690C>G	ENSP00000263736:p.Glu579Asp	Somatic		WXS	SOLID	Phase_I	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339968	0.24339	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	YqgF/RNase H-like domain (2);	0.243587	0.41712	D	0.000827	T	0.30103	0.0754	N	0.25426	0.745	0.27864	N	0.940284	B	0.18610	0.029	B	0.12837	0.008	T	0.11179	-1.0598	10	0.32370	T	0.25	.	12.5405	0.56167	0.0:0.9233:0.0:0.0767	.	579	Q8N5C6	SRBD1_HUMAN	D	579;98	ENSP00000263736:E579D;ENSP00000441272:E98D	ENSP00000263736:E579D	E	-	3	2	SRBD1	45628194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.580000	0.36547	2.586000	0.87340	0.655000	0.94253	GAG		0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079	
STYK1	55359	hgsc.bcm.edu;ucsc.edu	37	12	10783683	10783683	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr12:10783683G>C	ENST00000075503.3	-	5	932	c.412C>G	c.(412-414)Cct>Gct	p.P138A		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGCTTAGAAGGGTCCCCAGTG	0.478										HNSCC(73;0.22)																																							0													71.0	68.0	69.0					12																	10783683		2203	4300	6503	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.412C>G	12.37:g.10783683G>C	ENSP00000075503:p.Pro138Ala	Somatic		WXS	SOLID	Phase_I	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	0.328	-0.957596	0.02267	.	.	ENSG00000060140	ENST00000075503	D	0.81821	-1.54	5.43	-2.42	0.06542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.855925	0.10601	N	0.655694	T	0.57844	0.2081	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.35671	T	0.21	-0.2876	0.5086	0.00591	0.2827:0.2043:0.305:0.208	.	138	Q6J9G0	STYK1_HUMAN	A	138	ENSP00000075503:P138A	ENSP00000075503:P138A	P	-	1	0	STYK1	10674950	0.143000	0.22626	0.031000	0.17742	0.017000	0.09413	-0.000000	0.12993	-0.477000	0.06832	-3.869000	0.00017	CCT		0.478	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1		NM_018423	
TMEM71	137835	hgsc.bcm.edu	37	8	133740199	133740199	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr8:133740199T>G	ENST00000356838.3	-	6	606	c.464A>C	c.(463-465)gAc>gCc	p.D155A	TMEM71_ENST00000523829.1_Missense_Mutation_p.D174A|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	174						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGACTCCCAGTCATCAGTCAG	0.483																																																	0													94.0	90.0	91.0					8																	133740199		2203	4300	6503	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.464A>C	8.37:g.133740199T>G	ENSP00000349296:p.Asp155Ala	Somatic		WXS	SOLID	Phase_I	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.44|11.44	1.639598|1.639598	0.29157|0.29157	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000523829;ENST00000356838|ENST00000522780	.|.	.|.	.|.	5.91|5.91	-4.72|-4.72	0.03269|0.03269	.|.	1.013100|.	0.07887|.	N|.	0.970496|.	T|T	0.25232|0.25232	0.0613|0.0613	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.041|.	B;B|.	0.14578|.	0.011;0.011|.	T|T	0.35847|0.35847	-0.9772|-0.9772	9|5	0.09590|.	T|.	0.72|.	-0.0899|-0.0899	7.3291|7.3291	0.26571|0.26571	0.0:0.2319:0.4865:0.2816|0.0:0.2319:0.4865:0.2816	.|.	174;155|.	Q6P5X7;Q6P5X7-2|.	TMM71_HUMAN;.|.	A|P	174;155|12	.|.	ENSP00000349296:D155A|.	D|T	-|-	2|1	0|0	TMEM71|TMEM71	133809381|133809381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	0.018000|0.018000	0.13422|0.13422	-0.307000|-0.307000	0.08804|0.08804	-1.148000|-1.148000	0.01847|0.01847	GAC|ACT		0.483	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1		NM_144649	
UBAP2	55833	hgsc.bcm.edu	37	9	33989092	33989092	+	Silent	SNP	C	C	T			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:33989092C>T	ENST00000379238.1	-	5	438	c.321G>A	c.(319-321)aaG>aaA	p.K107K	UBAP2_ENST00000360802.1_Silent_p.K107K|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Silent_p.K107K|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Silent_p.K107K					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGCAAAATTCTTTTTCTTAC	0.378																																																	0													104.0	98.0	100.0					9																	33989092		2203	4300	6503	SO:0001819	synonymous_variant	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.321G>A	9.37:g.33989092C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000379238.1	37	CCDS6547.1																																																																																				0.378	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449	
ZMAT5	55954	hgsc.bcm.edu	37	22	30134342	30134342	+	Silent	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr22:30134342C>A	ENST00000344318.3	-	5	476	c.360G>T	c.(358-360)cgG>cgT	p.R120R	ZMAT5_ENST00000397781.3_Silent_p.R120R	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGAGCTCAGCCGCTTGGCTC	0.662																																																	0													72.0	63.0	66.0					22																	30134342		2203	4300	6503	SO:0001819	synonymous_variant	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.360G>T	22.37:g.30134342C>A		Somatic		WXS	SOLID	Phase_I	A8K9F6	Silent	SNP	ENST00000344318.3	37	CCDS13868.1																																																																																				0.662	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1		NM_019103	
ZNF462	58499	hgsc.bcm.edu	37	9	109687894	109687894	+	Missense_Mutation	SNP	G	G	C	rs536610712	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:109687894G>C	ENST00000277225.5	+	3	1990	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.Q567H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	567					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCACAGCTGCAGCCAC	0.652																																																	0													100.0	91.0	94.0					9																	109687894		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1701G>C	9.37:g.109687894G>C	ENSP00000277225:p.Gln567His	Somatic		WXS	SOLID	Phase_I	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671069	0.47781	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.25579	1.79;1.79	5.1	5.1	0.69264	.	0.134693	0.34802	N	0.003679	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B;B	0.30542	0.284;0.187	B;B	0.33960	0.173;0.084	T	0.15549	-1.0433	9	.	.	.	.	15.6085	0.76696	0.0:0.0:1.0:0.0	.	567;567	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	567	ENSP00000277225:Q567H;ENSP00000414570:Q567H	.	Q	+	3	2	ZNF462	108727715	1.000000	0.71417	0.987000	0.45799	0.350000	0.29205	3.202000	0.51067	2.542000	0.85734	0.561000	0.74099	CAG		0.652	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224	
