#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_ORegAnno_bin	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
ABI2	10152	hgsc.bcm.edu;ucsc.edu	37	2	204259531	204259531	+	Silent	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:204259531G>T	ENST00000422511.2	+	6	718	c.687G>T	c.(685-687)gtG>gtT	p.V229V	ABI2_ENST00000261017.5_Silent_p.V223V|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000295851.5_Silent_p.V229V|ABI2_ENST00000430418.1_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000261016.6_Silent_p.V178V|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Silent_p.V223V			Q9NYB9	ABI2_HUMAN	abl-interactor 2	229	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGAGCCCTGTGAGGACAGCTT	0.478																																																	0													144.0	133.0	137.0					2																	204259531		2203	4300	6503	SO:0001819	synonymous_variant	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.687G>T	2.37:g.204259531G>T			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Silent	SNP	ENST00000422511.2	37		.	.	.	.	.	.	.	.	.	.	G	8.778	0.927565	0.18056	.	.	ENSG00000138443	ENST00000451591;ENST00000454023	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0888	9.9138	0.41421	0.0:0.1175:0.595:0.2874	.	.	.	.	L	95;70	.	.	X	+	2	2	ABI2	203967776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.918000	0.40006	2.806000	0.96561	0.655000	0.94253	TGA		0.478	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2		NM_005759	
ABTB2	25841	hgsc.bcm.edu	37	11	34175904	34175904	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:34175904A>T	ENST00000435224.2	-	16	3212	c.2788T>A	c.(2788-2790)Ttc>Atc	p.F930I	ABTB2_ENST00000298992.2_Missense_Mutation_p.F744I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	930					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCAGCTGGAACAGGCTGGCA	0.612																																																	0													65.0	54.0	57.0					11																	34175904		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2788T>A	11.37:g.34175904A>T	ENSP00000410157:p.Phe930Ile		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028224	0.93518	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.69806	-0.43;-0.43	4.83	4.83	0.62350	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83946	0.0314	10	0.87932	D	0	-2.0694	14.397	0.67018	1.0:0.0:0.0:0.0	.	744	Q8N961	ABTB2_HUMAN	I	930;744	ENSP00000410157:F930I;ENSP00000298992:F744I	ENSP00000298992:F744I	F	-	1	0	ABTB2	34132480	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.339000	0.96797	1.805000	0.52779	0.260000	0.18958	TTC		0.612	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3		NM_145804	
ACAN	176	hgsc.bcm.edu	37	15	89398671	89398671	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr15:89398671G>A	ENST00000561243.1	+	11	2855	c.2855G>A	c.(2854-2856)gGg>gAg	p.G952E	ACAN_ENST00000352105.7_Missense_Mutation_p.G952E|ACAN_ENST00000559004.1_Missense_Mutation_p.G952E|ACAN_ENST00000439576.2_Missense_Mutation_p.G952E			P16112	PGCA_HUMAN	aggrecan	951	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGGAGTTGGGGATCTCAGT	0.552																																																	0													77.0	82.0	81.0					15																	89398671		1859	4111	5970	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2855G>A	15.37:g.89398671G>A	ENSP00000453342:p.Gly952Glu		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.225151	0.01530	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92699	-3.09;-3.09	4.49	-4.63	0.03359	.	.	.	.	.	T	0.67795	0.2931	N	0.01242	-0.935	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.40702	0.338;0.338	T	0.71925	-0.4445	9	0.02654	T	1	-0.1837	1.5117	0.02497	0.4953:0.1204:0.1943:0.1901	.	952;952	E7ENV9;E7EX88	.;.	E	952	ENSP00000387356:G952E;ENSP00000341615:G952E	ENSP00000268134:G952E	G	+	2	0	ACAN	87199675	0.000000	0.05858	0.021000	0.16686	0.161000	0.22273	-1.334000	0.02665	-0.378000	0.07918	-0.253000	0.11424	GGG		0.552	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	
AIFM3	150209	hgsc.bcm.edu;ucsc.edu	37	22	21331182	21331182	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:21331182C>G	ENST00000399167.2	+	13	1413	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	AIFM3_ENST00000399163.2_Missense_Mutation_p.F391L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.F391L|AIFM3_ENST00000405089.1_Missense_Mutation_p.F397L|AIFM3_ENST00000440238.2_Missense_Mutation_p.F391L|AIFM3_ENST00000335375.5_Missense_Mutation_p.F379L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	391					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGTGAAGTTCTACATGCAGA	0.642																																																	0													116.0	119.0	118.0					22																	21331182		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1173C>G	22.37:g.21331182C>G	ENSP00000382120:p.Phe391Leu		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796322	0.70567	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.48	4.26	0.50523	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	L	0.41961	1.31	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.988;0.985;0.985;0.988	D;D;P;P;P	0.97110	1.0;0.944;0.868;0.868;0.893	T	0.56135	-0.8029	10	0.37606	T	0.19	-23.1053	8.3863	0.32501	0.0:0.8158:0.0:0.1842	.	379;379;397;391;391	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	L	391;391;397;379;391;391	ENSP00000382120:F391L;ENSP00000382116:F391L;ENSP00000385800:F397L;ENSP00000335369:F379L;ENSP00000390798:F391L;ENSP00000327671:F391L	ENSP00000327671:F391L	F	+	3	2	AIFM3	19661182	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.653000	0.37323	2.588000	0.87417	0.561000	0.74099	TTC		0.642	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1		NM_144704	
ANKHD1	54882	hgsc.bcm.edu	37	5	139864831	139864831	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:139864831A>G	ENST00000360839.2	+	12	2150	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K666E|ANKHD1_ENST00000297183.6_Missense_Mutation_p.K666E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	666						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGACTCAAGGTAGTCTA	0.502																																																	0													72.0	63.0	66.0					5																	139864831		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1996A>G	5.37:g.139864831A>G	ENSP00000354085:p.Lys666Glu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	32	5.126260	0.94429	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.64803	0.09;0.09;-0.12;-0.12;0.09	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.42686	1.345	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.997	D;D;D;D	0.81914	0.991;0.995;0.995;0.992	T	0.75199	-0.3402	10	0.62326	D	0.03	.	15.5234	0.75881	1.0:0.0:0.0:0.0	.	666;685;666;666	Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;ANKH1_HUMAN	E	666;699;666;666;200;146;685;72;666	ENSP00000354085:K666E;ENSP00000297183:K666E;ENSP00000394489:K685E;ENSP00000405602:K72E;ENSP00000432016:K666E	ENSP00000432016:K666E	K	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139845015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.262000	0.95591	2.125000	0.65367	0.459000	0.35465	AAG		0.502	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747	
APOB	338	hgsc.bcm.edu;ucsc.edu	37	2	21224845	21224845	+	Silent	SNP	C	C	A	rs138421941	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:21224845C>A	ENST00000233242.1	-	29	13576	c.13449G>T	c.(13447-13449)gcG>gcT	p.A4483A	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4483					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCTTCGTCGCAATGGCCT	0.368																																																	0													85.0	91.0	89.0					2																	21224845		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13449G>T	2.37:g.21224845C>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			
ASTN2	23245	hgsc.bcm.edu	37	9	119976858	119976858	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:119976858C>A	ENST00000313400.4	-	3	894	c.794G>T	c.(793-795)cGg>cTg	p.R265L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R265L|ASTN2_ENST00000361209.2_Missense_Mutation_p.R265L			O75129	ASTN2_HUMAN	astrotactin 2	265					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R265Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCTCTCCCGCGCCTGGGG	0.597																																																	1	Substitution - Missense(1)	ovary(1)											84.0	75.0	78.0					9																	119976858		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.794G>T	9.37:g.119976858C>A	ENSP00000314038:p.Arg265Leu		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.226189	0.58668	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24538	2.01;2.0;1.85	5.51	4.6	0.57074	.	0.081526	0.49305	D	0.000150	T	0.36248	0.0960	N	0.24115	0.695	0.48087	D	0.999581	D;B;D	0.76494	0.998;0.156;0.999	D;B;D	0.80764	0.994;0.024;0.97	T	0.10776	-1.0615	9	.	.	.	-19.6359	15.8965	0.79338	0.0:0.864:0.136:0.0	.	265;265;265	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	L	265	ENSP00000314038:R265L;ENSP00000363108:R265L;ENSP00000354504:R265L	.	R	-	2	0	ASTN2	119016679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.867000	0.69597	1.298000	0.44778	0.655000	0.94253	CGG		0.597	ASTN2-201	KNOWN	basic	protein_coding	protein_coding			NM_014010	
BCAN	63827	hgsc.bcm.edu	37	1	156626162	156626162	+	Silent	SNP	G	G	T	rs368128491		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:156626162G>T	ENST00000329117.5	+	9	2367	c.2031G>T	c.(2029-2031)ggG>ggT	p.G677G	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	677	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGCTATGGGGGGGACCTGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16218	0.0		0.0	False		,,,				2504	0.001																0													83.0	75.0	78.0					1																	156626162		2203	4300	6503	SO:0001819	synonymous_variant	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2031G>T	1.37:g.156626162G>T			D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948	
BRD8	10902	hgsc.bcm.edu	37	5	137488285	137488285	+	Silent	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:137488285T>C	ENST00000254900.5	-	21	3113	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	914					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCGGGCTGCTTTCCTCTAGTT	0.557																																																	0													217.0	216.0	216.0					5																	137488285		2203	4300	6503	SO:0001819	synonymous_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2742A>G	5.37:g.137488285T>C			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																				0.557	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3		NM_006696	
SLX4	84464	hgsc.bcm.edu;ucsc.edu	37	16	3652234	3652234	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:3652234C>T	ENST00000294008.3	-	4	1475	c.835G>A	c.(835-837)Gta>Ata	p.V279I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	279	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATGCTCCTACCCGTGCAAAC	0.567								Direct reversal of damage																																									0													125.0	111.0	116.0					16																	3652234		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.835G>A	16.37:g.3652234C>T	ENSP00000294008:p.Val279Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	10.35	1.327083	0.24080	.	.	ENSG00000188827	ENST00000294008	T	0.01113	5.32	5.83	3.85	0.44370	.	0.359775	0.30593	N	0.009291	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.47315	-0.9127	10	0.66056	D	0.02	.	9.135	0.36868	0.0:0.6478:0.2779:0.0743	.	279	Q8IY92	SLX4_HUMAN	I	279	ENSP00000294008:V279I	ENSP00000294008:V279I	V	-	1	0	SLX4	3592235	0.943000	0.32029	0.020000	0.16555	0.062000	0.15995	2.625000	0.46452	0.795000	0.33922	-0.136000	0.14681	GTA		0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444	
C9orf131	138724	hgsc.bcm.edu;ucsc.edu	37	9	35043871	35043871	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:35043871A>C	ENST00000312292.5	+	2	1292	c.1245A>C	c.(1243-1245)gaA>gaC	p.E415D	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.E342D|C9orf131_ENST00000421362.2_Missense_Mutation_p.E367D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	415										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCAGTGGGAATGCAGAGAAA	0.537																																																	0													75.0	83.0	80.0					9																	35043871		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1245A>C	9.37:g.35043871A>C	ENSP00000308279:p.Glu415Asp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970334	0.34754	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15372	2.43;2.43;2.43	4.89	1.08	0.20341	.	1.344200	0.04916	N	0.454189	T	0.14917	0.0360	L	0.55481	1.735	0.09310	N	1	B;B;B	0.31290	0.318;0.318;0.318	B;B;B	0.26416	0.069;0.069;0.069	T	0.31752	-0.9932	10	0.16420	T	0.52	0.6798	5.3514	0.16038	0.4742:0.3547:0.0:0.1712	.	415;342;367	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	D	367;342;415	ENSP00000393683:E367D;ENSP00000346472:E342D;ENSP00000308279:E415D	ENSP00000308279:E415D	E	+	3	2	C9orf131	35033871	0.000000	0.05858	0.002000	0.10522	0.593000	0.36681	0.934000	0.28910	0.854000	0.35336	0.533000	0.62120	GAA		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5		NM_203299	
CATSPER4	378807	hgsc.bcm.edu;ucsc.edu	37	1	26520358	26520358	+	Silent	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:26520358T>C	ENST00000456354.2	+	3	505	c.438T>C	c.(436-438)aaT>aaC	p.N146N		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	146					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCTCAATGGCTTCTGGA	0.517																																																	0													171.0	144.0	153.0					1																	26520358		2203	4300	6503	SO:0001819	synonymous_variant	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.438T>C	1.37:g.26520358T>C			A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	CCDS30645.1																																																																																				0.517	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2		NM_198137	
CCDC114	93233	hgsc.bcm.edu	37	19	48809521	48809521	+	Silent	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:48809521G>A	ENST00000315396.7	-	6	1228	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	182					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACCTGACGGCGTAGGCAGAGG	0.557																																																	0													106.0	125.0	119.0					19																	48809521		692	1591	2283	SO:0001819	synonymous_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.546C>T	19.37:g.48809521G>A			Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.557	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1		NM_144577	
CCDC144CP	348254	hgsc.bcm.edu;ucsc.edu	37	17	18486814	18486815	+	IGR	INS	-	-	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:18486814_18486815insT								CTD-2303H24.2 (41580 upstream) : CCDC144B (4777 downstream)																							TTCTTTTCTCCCATTTTCTTGT	0.317																																																	0																																										SO:0001628	intergenic_variant	284047																															17.37:g.18486814_18486815insT				Frame_Shift_Ins	INS		37																																																																																				0	0.317									
CDK18	5129	hgsc.bcm.edu;ucsc.edu	37	1	205494268	205494268	+	Splice_Site	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:205494268C>T	ENST00000360066.2	+	5	702	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CDK18_ENST00000506784.1_Splice_Site_p.S164L|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Splice_Site_p.S134L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	132							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCCTCTCAGTCAGACATTGGC	0.542											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)												0													130.0	115.0	120.0					1																	205494268		2203	4300	6503	SO:0001630	splice_region_variant	5129			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.400-1C>T	1.37:g.205494268C>T		2152	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038871	0.93630	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000443813;ENST00000419301	T;T;T;T;T;T	0.71103	-0.54;-0.53;-0.54;0.09;1.14;1.42	4.73	4.73	0.59995	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.82056	2.57	0.80722	D	1	D;D;D;P	0.71674	0.997;0.997;0.998;0.684	D;D;D;P	0.78314	0.973;0.98;0.991;0.614	D	0.86912	0.2061	10	0.87932	D	0	-7.7081	16.4336	0.83861	0.0:1.0:0.0:0.0	.	96;132;164;134	Q59G02;Q07002;Q07002-3;Q07002-2	.;CDK18_HUMAN;.;.	L	134;164;134;45;143;164	ENSP00000399082:S134L;ENSP00000423665:S164L;ENSP00000353176:S134L;ENSP00000423408:S45L;ENSP00000397831:S143L;ENSP00000391324:S164L	ENSP00000353176:S134L	S	+	2	0	CDK18	203760891	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.629000	0.83207	2.456000	0.83038	0.561000	0.74099	TCA		0.542	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2		NM_002596	Missense_Mutation
CELF4	56853	hgsc.bcm.edu	37	18	35145518	35145518	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr18:35145518A>T	ENST00000591282.1	-	1	86	c.87T>A	c.(85-87)agT>agA	p.S29R	CELF4_ENST00000603232.1_Missense_Mutation_p.S29R|CELF4_ENST00000601019.1_Missense_Mutation_p.S29R|CELF4_ENST00000412753.1_Missense_Mutation_p.S29R|CELF4_ENST00000588597.1_Missense_Mutation_p.S29R|CELF4_ENST00000361795.5_Missense_Mutation_p.S29R|CELF4_ENST00000591287.1_Missense_Mutation_p.S29R|CELF4_ENST00000420428.2_Missense_Mutation_p.S29R|CELF4_ENST00000334919.5_Missense_Mutation_p.S29R			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	29	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTGCCCGGCACTGCCCGGGC	0.562																																																	0													57.0	54.0	55.0					18																	35145518		2203	4300	6503	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.87T>A	18.37:g.35145518A>T	ENSP00000464794:p.Ser29Arg		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257391	0.39896	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.74632	-0.8;-0.79;-0.78;-0.86	5.13	3.22	0.36961	.	0.136527	0.44483	D	0.000460	T	0.56077	0.1961	N	0.22421	0.69	0.29827	N	0.83037	B;B;B;B;B	0.33477	0.027;0.0;0.413;0.0;0.034	B;B;B;B;B	0.26416	0.01;0.0;0.069;0.001;0.031	T	0.60234	-0.7303	10	0.72032	D	0.01	-9.8614	9.1865	0.37174	0.0826:0.145:0.7724:0.0	.	29;29;29;29;29	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	R	29	ENSP00000355089:S29R;ENSP00000406823:S29R;ENSP00000410584:S29R;ENSP00000335631:S29R	ENSP00000335631:S29R	S	-	3	2	CELF4	33399516	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.387000	0.52501	1.268000	0.44264	-0.248000	0.11899	AGT		0.562	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180	
COBLL1	22837	hgsc.bcm.edu	37	2	165560994	165560994	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:165560994A>T	ENST00000392717.2	-	9	1303	c.1299T>A	c.(1297-1299)agT>agA	p.S433R	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.S461R|COBLL1_ENST00000342193.4_Missense_Mutation_p.S395R|COBLL1_ENST00000375458.2_Missense_Mutation_p.S395R|COBLL1_ENST00000409184.3_Missense_Mutation_p.S433R			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	433						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTTCTGAAGCACTGTCTGGAG	0.398																																																	0													111.0	111.0	111.0					2																	165560994		2203	4300	6503	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1299T>A	2.37:g.165560994A>T	ENSP00000376478:p.Ser433Arg		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	18.03	3.533490	0.64972	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.8	-2.53	0.06326	.	0.385129	0.25200	N	0.032395	T	0.19446	0.0467	L	0.32530	0.975	0.09310	N	1	P;P;P	0.50443	0.893;0.893;0.935	B;B;P	0.45610	0.312;0.387;0.487	T	0.22871	-1.0204	9	0.31617	T	0.26	-6.3443	5.4446	0.16527	0.4317:0.0:0.4226:0.1456	.	433;461;433	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	R	395;395;433;433;461	.	ENSP00000194871:S461R	S	-	3	2	COBLL1	165269240	0.042000	0.20092	0.010000	0.14722	0.058000	0.15608	0.165000	0.16564	-0.336000	0.08438	0.482000	0.46254	AGT		0.398	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900	
COMMD9	29099	hgsc.bcm.edu;ucsc.edu	37	11	36298648	36298648	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:36298648C>A	ENST00000263401.5	-	4	359	c.343G>T	c.(343-345)Gca>Tca	p.A115S	COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000532705.1_Intron|COMMD9_ENST00000452374.2_Missense_Mutation_p.A73S	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	115										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CTCTGATTTGCCTGGGCTTCG	0.473																																																	0													152.0	141.0	145.0					11																	36298648		2202	4298	6500	SO:0001583	missense	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.343G>T	11.37:g.36298648C>A	ENSP00000263401:p.Ala115Ser		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	C	2.209	-0.381152	0.05000	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.09350	2.99;2.99	5.48	2.59	0.31030	.	0.474096	0.24417	N	0.038718	T	0.06781	0.0173	L	0.33485	1.01	0.09310	N	0.999999	B;B;B	0.17268	0.006;0.006;0.021	B;B;B	0.18871	0.023;0.011;0.019	T	0.41752	-0.9491	10	0.08381	T	0.77	-18.2858	7.3153	0.26498	0.0:0.6462:0.0:0.3538	.	115;73;115	B4DIH0;Q9P000-2;Q9P000	.;.;COMD9_HUMAN	S	115;115;73	ENSP00000263401:A115S;ENSP00000392510:A73S	ENSP00000263401:A115S	A	-	1	0	COMMD9	36255224	0.000000	0.05858	0.961000	0.40146	0.683000	0.39861	0.101000	0.15251	0.800000	0.34041	0.563000	0.77884	GCA		0.473	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1		NM_014186	
DCC	1630	hgsc.bcm.edu;ucsc.edu	37	18	50918089	50918089	+	Silent	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr18:50918089C>G	ENST00000442544.2	+	17	3136	c.2520C>G	c.(2518-2520)ctC>ctG	p.L840L	DCC_ENST00000581580.1_Silent_p.L475L|DCC_ENST00000412726.1_Silent_p.L668L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	840					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCAGATCTCTCCACCCCCA	0.493																																																	0													133.0	125.0	127.0					18																	50918089		2203	4300	6503	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2520C>G	18.37:g.50918089C>G				Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215	
DNAJC10	54431	hgsc.bcm.edu	37	2	183622513	183622513	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:183622513G>A	ENST00000264065.7	+	19	2319	c.1904G>A	c.(1903-1905)aGa>aAa	p.R635K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	635	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCTGAGATAAGATTTTTTCCC	0.313																																					Pancreas(56;860 1183 25669 35822 48585)												0													69.0	75.0	73.0					2																	183622513		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1904G>A	2.37:g.183622513G>A	ENSP00000264065:p.Arg635Lys		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581695	0.96565	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.36878	1.23	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	N	0.17764	0.52	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.58130	0.833;0.779	T	0.03325	-1.1048	10	0.07990	T	0.79	.	20.193	0.98233	0.0:0.0:1.0:0.0	.	589;635	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	635;589	ENSP00000264065:R635K	ENSP00000264065:R635K	R	+	2	0	DNAJC10	183330758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.693000	0.74582	2.941000	0.99782	0.655000	0.94253	AGA		0.313	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2		NM_018981	
DSCAM	1826	hgsc.bcm.edu	37	21	41516473	41516474	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr21:41516473_41516474insT	ENST00000400454.1	-	17	3680_3681	c.3203_3204insA	c.(3202-3204)aacfs	p.N1068fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1068	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCGGCCCGGTTACAGGCCTG	0.579																																					Melanoma(134;970 1778 1785 21664 32388)												0																																										SO:0001589	frameshift_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3204dupA	21.37:g.41516475_41516475dupT	ENSP00000383303:p.Asn1068fs		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	CCDS42929.1																																																																																				0.579	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389	
EAPP	55837	hgsc.bcm.edu;ucsc.edu	37	14	34985595	34985595	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr14:34985595G>C	ENST00000250454.3	-	6	860	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	260					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGAACATTCAGTGCACATGAC	0.443																																																	0													216.0	209.0	211.0					14																	34985595		1988	4159	6147	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.779C>G	14.37:g.34985595G>C	ENSP00000250454:p.Thr260Ser		Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698194	0.30142	.	.	ENSG00000129518	ENST00000250454	T	0.39056	1.1	5.44	5.44	0.79542	.	0.249977	0.45867	D	0.000339	T	0.27134	0.0665	N	0.20766	0.605	0.45284	D	0.998284	B	0.23854	0.092	B	0.23716	0.048	T	0.07309	-1.0779	10	0.08381	T	0.77	-1.5813	14.4857	0.67616	0.0:0.0:0.8531:0.1469	.	260	Q56P03	EAPP_HUMAN	S	260	ENSP00000250454:T260S	ENSP00000250454:T260S	T	-	2	0	EAPP	34055346	1.000000	0.71417	0.867000	0.34043	0.922000	0.55478	5.511000	0.67024	2.720000	0.93068	0.650000	0.86243	ACT		0.443	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1		NM_018453	
EDIL3	10085	hgsc.bcm.edu	37	5	83402558	83402558	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:83402558T>C	ENST00000296591.5	-	6	978	c.560A>G	c.(559-561)cAa>cGa	p.Q187R	EDIL3_ENST00000380138.3_Missense_Mutation_p.Q177R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	187	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATACCATTTTTGGAGTCCAAA	0.443																																																	0													187.0	193.0	191.0					5																	83402558		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.560A>G	5.37:g.83402558T>C	ENSP00000296591:p.Gln187Arg		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705556	0.89018	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98221	-4.8;-4.8	5.55	5.55	0.83447	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.057906	0.64402	N	0.000001	D	0.98362	0.9456	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.979;0.995	D	0.99297	1.0900	10	0.49607	T	0.09	-12.9936	15.7058	0.77580	0.0:0.0:0.0:1.0	.	177;187	O43854-2;O43854	.;EDIL3_HUMAN	R	187;177	ENSP00000296591:Q187R;ENSP00000369483:Q177R	ENSP00000296591:Q187R	Q	-	2	0	EDIL3	83438314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.482000	0.81143	2.126000	0.65437	0.528000	0.53228	CAA		0.443	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1		NM_005711	
EFCAB3	146779	hgsc.bcm.edu;ucsc.edu	37	17	60484560	60484560	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:60484560A>G	ENST00000305286.3	+	8	932	c.854A>G	c.(853-855)gAc>gGc	p.D285G	EFCAB3_ENST00000450662.2_Missense_Mutation_p.D337G	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	285							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CATAAAAGAGACTGGAAAACA	0.328																																																	0													60.0	63.0	62.0					17																	60484560		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.854A>G	17.37:g.60484560A>G	ENSP00000302649:p.Asp285Gly		J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809348	0.70797	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.60797	0.16;0.2	5.91	5.91	0.95273	.	0.195674	0.36034	N	0.002829	T	0.56702	0.2003	M	0.62723	1.935	0.39499	D	0.96816	P	0.46987	0.888	B	0.42163	0.378	T	0.63726	-0.6572	10	0.52906	T	0.07	.	12.735	0.57218	1.0:0.0:0.0:0.0	.	285	Q8N7B9	EFCB3_HUMAN	G	337;285	ENSP00000403932:D337G;ENSP00000302649:D285G	ENSP00000302649:D285G	D	+	2	0	EFCAB3	57838292	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.855000	0.62925	2.263000	0.75096	0.377000	0.23210	GAC		0.328	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1		NM_173503	
ERCC4	2072	hgsc.bcm.edu	37	16	14015889	14015889	+	Splice_Site	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:14015889A>G	ENST00000311895.7	+	2	218	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ERCC4_ENST00000575156.1_Splice_Site_p.E70G	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	70	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGATTTAGGAGTATTTTATC	0.348			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													56.0	52.0	53.0					16																	14015889		2197	4300	6497	SO:0001630	splice_region_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.208-1A>G	16.37:g.14015889A>G			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769381	0.90020	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.57595	0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	L	0.55103	1.725	0.80722	D	1	D;D	0.76494	0.999;0.983	D;D	0.72982	0.979;0.914	T	0.69250	-0.5194	10	0.56958	D	0.05	-29.641	14.4856	0.67614	1.0:0.0:0.0:0.0	.	70;70	A5PKV6;Q92889	.;XPF_HUMAN	G	70;59;59	ENSP00000310520:E70G	ENSP00000310520:E70G	E	+	2	0	ERCC4	13923390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.907000	0.92634	2.000000	0.58554	0.533000	0.62120	GAG		0.348	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2		NM_005236	Missense_Mutation
EWSR1	2130	hgsc.bcm.edu	37	22	29694787	29694787	+	Silent	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:29694787A>G	ENST00000397938.2	+	14	1801	c.1482A>G	c.(1480-1482)agA>agG	p.R494R	EWSR1_ENST00000414183.2_Silent_p.R499R|EWSR1_ENST00000406548.1_Silent_p.R493R|EWSR1_ENST00000332035.6_Silent_p.R438R|EWSR1_ENST00000331029.7_Silent_p.R456R|EWSR1_ENST00000332050.6_Silent_p.R421R	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	494	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGAGATAGAGGAGGCTTCC	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													73.0	81.0	79.0					22																	29694787		2203	4300	6503	SO:0001819	synonymous_variant	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1482A>G	22.37:g.29694787A>G			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	9.859	1.195650	0.22037	.	.	ENSG00000182944	ENST00000360091	T	0.48836	0.8	5.52	4.43	0.53597	.	0.000000	0.85682	U	0.000000	T	0.29524	0.0736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12604	-1.0541	7	0.10377	T	0.69	.	4.1253	0.10125	0.6962:0.0:0.1211:0.1827	.	.	.	.	G	150	ENSP00000353204:R150G	ENSP00000353204:R150G	R	+	1	2	EWSR1	28024787	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.674000	0.37544	2.100000	0.63781	0.379000	0.24179	AGG		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1		NM_005243	
TVP23B	51030	hgsc.bcm.edu	37	17	18694277	18694277	+	Missense_Mutation	SNP	G	G	A	rs61075345	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:18694277G>A	ENST00000307767.8	+	3	463	c.164G>A	c.(163-165)gGg>gAg	p.G55E	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.G55E	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	55			G -> E (in dbSNP:rs61075345). {ECO:0000269|PubMed:10810093, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)											CTTCTCTGTGGGTTGCTCAGC	0.373													N|||	4222	0.843051	0.8744	0.8516	5008	,	,		14722	0.8948		0.8519	False		,,,				2504	0.7321																0								A	GLU/GLY	3642,764		1644,354,205	166.0	169.0	168.0		164	3.8	1.0	17	dbSNP_129	168	6975,1625		3019,937,344	no	missense	FAM18B1	NM_016078.4	98	4663,1291,549	AA,AG,GG		18.8953,17.34,18.3684	benign	55/206	18694277	10617,2389	2203	4300	6503	SO:0001583	missense	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.164G>A	17.37:g.18694277G>A	ENSP00000305654:p.Gly55Glu		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	CCDS42274.1	1773	0.8118131868131868	380	0.7723577235772358	296	0.8176795580110497	484	0.8461538461538461	613	0.8087071240105541	A	0.007	-1.936877	0.00484	0.8266	0.811047	ENSG00000171928	ENST00000307767	T	0.41758	0.99	3.76	3.76	0.43208	.	0.228704	0.44902	N	0.000404	T	0.00012	0.0000	N	0.03948	-0.315	0.09310	P	1.0	B	0.02656	0.0	B	0.06405	0.002	T	0.40001	-0.9586	9	0.05721	T	0.95	-2.6581	5.3949	0.16263	0.7633:0.0:0.2367:0.0	rs61075345;rs62075103	55	Q9NYZ1	F18B1_HUMAN	E	55	ENSP00000305654:G55E	ENSP00000305654:G55E	G	+	2	0	FAM18B1	18635002	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	3.641000	0.54360	0.496000	0.27904	-0.966000	0.02617	GGG		0.373	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2		NM_016078	
FAM72A	729533	hgsc.bcm.edu	37	1	206153974	206153974	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:206153974T>C	ENST00000367128.3	+	4	1221	c.373T>C	c.(373-375)Tgg>Cgg	p.W125R	FAM72A_ENST00000341209.5_Missense_Mutation_p.W85R|FAM72A_ENST00000367129.2_Missense_Mutation_p.W125R|FAM72A_ENST00000470041.1_3'UTR			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	125						mitochondrion (GO:0005739)				endometrium(2)	2						CGTCCTACTTTGGGGCAACTT	0.308																																																	0													94.0	87.0	89.0					1																	206153974		1568	3579	5147	SO:0001583	missense	729533			CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.373T>C	1.37:g.206153974T>C	ENSP00000356096:p.Trp125Arg		B2RV15|Q5TYM4	Missense_Mutation	SNP	ENST00000367128.3	37	CCDS41458.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240705	0.58995	.	.	ENSG00000196550	ENST00000367129;ENST00000367128;ENST00000341209	T;T;T	0.36520	1.25;1.25;1.25	3.34	3.34	0.38264	.	0.082348	0.53938	U	0.000057	T	0.56001	0.1956	M	0.73598	2.24	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.59005	-0.7535	10	0.62326	D	0.03	.	9.6461	0.39868	0.0:0.0:0.0:1.0	.	125	Q5TYM5	FA72A_HUMAN	R	125;125;85	ENSP00000356097:W125R;ENSP00000356096:W125R;ENSP00000340661:W85R	ENSP00000340661:W85R	W	+	1	0	FAM72A	204320597	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.842000	0.75379	1.535000	0.49220	0.392000	0.25879	TGG		0.308	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			
FER1L6	654463	hgsc.bcm.edu	37	8	125015549	125015549	+	Silent	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr8:125015549C>T	ENST00000522917.1	+	13	1868	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	FER1L6_ENST00000399018.1_Silent_p.T554T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	554						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCCTCCACCACTCACCCGG	0.517																																																	0													43.0	45.0	44.0					8																	125015549		1960	4145	6105	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1662C>T	8.37:g.125015549C>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112	
GK2	2712	hgsc.bcm.edu	37	4	80328113	80328113	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr4:80328113G>T	ENST00000358842.3	-	1	1259	c.1242C>A	c.(1240-1242)gaC>gaA	p.D414E		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAATTCCACAGTCACGGTTCA	0.403																																																	0													131.0	124.0	126.0					4																	80328113		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1242C>A	4.37:g.80328113G>T	ENSP00000351706:p.Asp414Glu		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074026	0.55646	.	.	ENSG00000196475	ENST00000358842	D	0.85955	-2.05	4.19	2.47	0.30058	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	L	0.49350	1.555	0.54753	D	0.999981	D	0.76494	0.999	D	0.91635	0.999	D	0.85677	0.1298	10	0.87932	D	0	-24.7715	6.1664	0.20392	0.3003:0.0:0.6997:0.0	.	414	Q14410	GLPK2_HUMAN	E	414	ENSP00000351706:D414E	ENSP00000351706:D414E	D	-	3	2	GK2	80547137	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.331000	0.52075	0.729000	0.32403	0.585000	0.79938	GAC		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2		NM_033214	
HELQ	113510	hgsc.bcm.edu;ucsc.edu	37	4	84362515	84362515	+	Nonsense_Mutation	SNP	A	A	C	rs371635045		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr4:84362515A>C	ENST00000295488.3	-	7	1767	c.1605T>G	c.(1603-1605)taT>taG	p.Y535*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.Y468*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	535					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGTCAACTTCATATATTGTAT	0.294								Other identified genes with known or suspected DNA repair function																																									0													69.0	67.0	68.0					4																	84362515		2201	4299	6500	SO:0001587	stop_gained	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1605T>G	4.37:g.84362515A>C	ENSP00000295488:p.Tyr535*		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	39	7.400993	0.98262	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.59	4.41	0.53225	.	0.056614	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2327	10.1783	0.42952	0.8612:0.0:0.1388:0.0	.	.	.	.	X	535;468	.	ENSP00000295488:Y535X	Y	-	3	2	HELQ	84581539	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.591000	0.46163	1.057000	0.40506	0.533000	0.62120	TAT		0.294	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1		NM_133636	
IL18R1	8809	hgsc.bcm.edu;ucsc.edu	37	2	103013085	103013085	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:103013085A>C	ENST00000409599.1	+	12	1721	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	IL18R1_ENST00000233957.1_Missense_Mutation_p.E455D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	455	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGTATGAACTTGAAAGTG	0.353																																																	0													65.0	67.0	66.0					2																	103013085		2203	4300	6503	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1365A>C	2.37:g.103013085A>C	ENSP00000387211:p.Glu455Asp		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200010	0.79015	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.20200	2.09;2.09;2.09	5.59	1.91	0.25777	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.40522	0.1120	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.12915	-1.0529	10	0.51188	T	0.08	.	6.1401	0.20255	0.7171:0.1375:0.1454:0.0	.	454;455	B7ZKV7;Q13478	.;IL18R_HUMAN	D	455	ENSP00000386663:E455D;ENSP00000387211:E455D;ENSP00000233957:E455D	ENSP00000233957:E455D	E	+	3	2	IL18R1	102379517	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.253000	0.43205	0.480000	0.27534	0.460000	0.39030	GAA		0.353	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		NM_003855	
ILVBL	10994	hgsc.bcm.edu	37	19	15228699	15228699	+	Silent	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:15228699A>T	ENST00000263383.3	-	10	1318	c.1179T>A	c.(1177-1179)gcT>gcA	p.A393A	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.A286A	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.A393A(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCTGCACAGCCTCCTGGG	0.557																																																	1	Substitution - coding silent(1)	ovary(1)											89.0	83.0	85.0					19																	15228699		2203	4300	6503	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1179T>A	19.37:g.15228699A>T			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.557	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		NM_006844	
ITGB7	3695	hgsc.bcm.edu	37	12	53591327	53591327	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:53591327C>G	ENST00000267082.5	-	5	755	c.524G>C	c.(523-525)gGg>gCg	p.G175A	ITGB7_ENST00000422257.3_Missense_Mutation_p.G175A|ITGB7_ENST00000338737.4_Missense_Mutation_p.G175A|ITGB7_ENST00000550743.2_Missense_Mutation_p.G175A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	175	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G175A(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGAGCGTGCCCGAGCTGGCG	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											79.0	70.0	73.0					12																	53591327		2203	4300	6503	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.524G>C	12.37:g.53591327C>G	ENSP00000267082:p.Gly175Ala		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310534	0.95629	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	4.91	4.91	0.64330	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.35436	N	0.003220	D	0.97256	0.9103	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.967;0.999	D	0.97787	1.0236	10	0.66056	D	0.02	.	17.3056	0.87194	0.0:1.0:0.0:0.0	.	175;175	B7Z769;P26010	.;ITB7_HUMAN	A	175	ENSP00000408741:G175A;ENSP00000267082:G175A;ENSP00000345501:G175A;ENSP00000437375:G175A	ENSP00000267082:G175A	G	-	2	0	ITGB7	51877594	1.000000	0.71417	0.816000	0.32577	0.995000	0.86356	7.598000	0.82745	2.459000	0.83118	0.555000	0.69702	GGG		0.617	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			
KCNU1	157855	hgsc.bcm.edu;ucsc.edu	37	8	36694387	36694387	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr8:36694387G>C	ENST00000399881.3	+	14	1479	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	481	RCK N-terminal.|Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTAAAACTTGGATTTATCGCC	0.433																																																	0													169.0	165.0	167.0					8																	36694387		1868	4115	5983	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1442G>C	8.37:g.36694387G>C	ENSP00000382770:p.Gly481Ala			Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660752	0.67700	.	.	ENSG00000215262	ENST00000399881	T	0.39229	1.09	5.34	5.34	0.76211	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.37136	U	0.002227	T	0.68540	0.3012	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72497	-0.4275	10	0.87932	D	0	-4.0016	18.9859	0.92769	0.0:0.0:1.0:0.0	.	481	A8MYU2	KCNU1_HUMAN	A	481	ENSP00000382770:G481A	ENSP00000382770:G481A	G	+	2	0	KCNU1	36813545	1.000000	0.71417	0.984000	0.44739	0.197000	0.23852	9.234000	0.95347	2.657000	0.90304	0.585000	0.79938	GGA		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836	
LYST	1130	hgsc.bcm.edu	37	1	235971988	235971988	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:235971988C>A	ENST00000389794.3	-	5	2304	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	LYST_ENST00000536965.1_Missense_Mutation_p.Q710H|LYST_ENST00000389793.2_Missense_Mutation_p.Q710H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	710					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATTTGCAATCTGTATACTAT	0.348																																																	0													48.0	52.0	51.0					1																	235971988		2202	4298	6500	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2130G>T	1.37:g.235971988C>A	ENSP00000374444:p.Gln710His		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485502	0.26686	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68025	-0.3;-0.3;1.01	5.71	-0.441	0.12257	.	0.053153	0.85682	D	0.000000	T	0.48607	0.1509	L	0.38531	1.155	0.42790	D	0.993898	B;B	0.25390	0.047;0.125	B;B	0.22152	0.027;0.038	T	0.28522	-1.0041	10	0.54805	T	0.06	.	5.2603	0.15569	0.2352:0.486:0.0:0.2789	.	710;710	Q99698-3;Q99698	.;LYST_HUMAN	H	710	ENSP00000374444:Q710H;ENSP00000374443:Q710H;ENSP00000438315:Q710H	ENSP00000374443:Q710H	Q	-	3	2	LYST	234038611	1.000000	0.71417	0.909000	0.35828	0.965000	0.64279	2.025000	0.41059	0.033000	0.15463	-0.150000	0.13652	CAG		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MAP2	4133	hgsc.bcm.edu;ucsc.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCAATTTGCCGATGTCTTGC	0.438																																					Pancreas(27;423 979 28787 29963)												1	Substitution - Missense(1)	large_intestine(1)						C	,LEU/PRO,,	0,4406		0,0,2203	241.0	231.0	234.0		,2114,,	6.1	1.0	2	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,98,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,,	,705/1828,,	210559008	1,13005	2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2114C>T	2.37:g.210559008C>T	ENSP00000353508:p.Pro705Leu		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538	
MAP2K3	5606	hgsc.bcm.edu	37	17	21204187	21204187	+	Splice_Site	SNP	G	G	T	rs56067280	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:21204187G>T	ENST00000342679.4	+	5	530	c.281G>T	c.(280-282)cGg>cTg	p.R94L	MAP2K3_ENST00000316920.6_Splice_Site_p.R65L|MAP2K3_ENST00000361818.5_Splice_Site_p.R65L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in dbSNP:rs56067280). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R98L(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCCTGCAGCGGATCCGGGCC	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001630	splice_region_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.280-1G>T	17.37:g.21204187G>T			B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	1092	0.5	246	0.5	181	0.5	286	0.5	379	0.5	G	17.14	3.314111	0.60414	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;D	0.89123	1.09;1.09;-2.47	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.00012	0.0000	N	0.20610	0.595	0.09310	P	0.9999999857583	D	0.58268	0.982	P	0.51487	0.671	T	0.29458	-1.0011	9	0.72032	D	0.01	-28.208	18.4815	0.90813	0.0:0.0:1.0:0.0	rs56067280	94	P46734	MP2K3_HUMAN	L	94;65;65;65;98	ENSP00000345083:R94L;ENSP00000355081:R65L;ENSP00000434068:R65L	ENSP00000319139:R98L	R	+	2	0	MAP2K3	21144780	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.845000	0.86875	2.359000	0.80004	0.655000	0.94253	CGG		0.607	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109	Missense_Mutation
METTL15	196074	hgsc.bcm.edu	37	11	28352293	28352293	+	Silent	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:28352293T>C	ENST00000407364.3	+	7	1481	c.1129T>C	c.(1129-1131)Ttg>Ctg	p.L377L	METTL15_ENST00000406787.3_3'UTR|METTL15_ENST00000342303.5_3'UTR|METTL15_ENST00000303459.6_3'UTR			A6NJ78	MET15_HUMAN	methyltransferase like 15	377							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AATGTGGGAATTGATACACAA	0.408																																																	0													58.0	49.0	52.0					11																	28352293		692	1591	2283	SO:0001819	synonymous_variant	0			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.1129T>C	11.37:g.28352293T>C			A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Silent	SNP	ENST00000407364.3	37	CCDS44559.1																																																																																				0.408	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2		NM_152636	
MTMR3	8897	hgsc.bcm.edu	37	22	30408372	30408372	+	Silent	SNP	T	T	C	rs147773147		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:30408372T>C	ENST00000401950.2	+	13	1479	c.1137T>C	c.(1135-1137)ctT>ctC	p.L379L	MTMR3_ENST00000406629.1_Silent_p.L379L|MTMR3_ENST00000323630.5_Silent_p.L243L|MTMR3_ENST00000351488.3_Silent_p.L379L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.L379L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	379	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TATCAGCTCTTGAAAGCACAA	0.413																																																	0								T	,,	0,4406		0,0,2203	120.0	120.0	120.0		1137,1137,1137	-3.9	1.0	22	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,,	379/1199,379/1171,379/1162	30408372	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1137T>C	22.37:g.30408372T>C			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.413	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090	
NNT	23530	hgsc.bcm.edu;ucsc.edu	37	5	43659277	43659277	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:43659277T>A	ENST00000264663.5	+	17	2680	c.2459T>A	c.(2458-2460)gTg>gAg	p.V820E	NNT_ENST00000512996.2_Missense_Mutation_p.V689E|NNT_ENST00000344920.4_Missense_Mutation_p.V820E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	820					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTCTAGGGTGTGACTTTGACA	0.428																																																	0													145.0	145.0	145.0					5																	43659277		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2459T>A	5.37:g.43659277T>A	ENSP00000264663:p.Val820Glu		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239558	0.79800	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92149	-2.98;-2.98;-2.98	5.92	5.92	0.95590	.	0.054814	0.64402	D	0.000001	D	0.96818	0.8961	M	0.93150	3.385	0.80722	D	1	D	0.57899	0.981	D	0.64687	0.928	D	0.96824	0.9606	10	0.40728	T	0.16	-18.67	16.3742	0.83379	0.0:0.0:0.0:1.0	.	820	Q13423	NNTM_HUMAN	E	335;820;820;689	ENSP00000264663:V820E;ENSP00000343873:V820E;ENSP00000426343:V689E	ENSP00000264663:V820E	V	+	2	0	NNT	43695034	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	GTG		0.428	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977	
NOX4	50507	hgsc.bcm.edu	37	11	89088168	89088168	+	Silent	SNP	G	G	A	rs75735530	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:89088168G>A	ENST00000263317.4	-	13	1417	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	NOX4_ENST00000535633.1_Silent_p.S369S|NOX4_ENST00000527626.1_Silent_p.S227S|NOX4_ENST00000531342.1_Silent_p.S86S|NOX4_ENST00000424319.1_Silent_p.S369S|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Silent_p.S368S|NOX4_ENST00000534731.1_Silent_p.S393S|NOX4_ENST00000413594.2_Silent_p.S414S|NOX4_ENST00000343727.5_Silent_p.S369S|NOX4_ENST00000375979.3_Silent_p.S86S|NOX4_ENST00000532825.1_Silent_p.S369S|NOX4_ENST00000542487.1_Silent_p.S369S|NOX4_ENST00000527956.1_Silent_p.S369S			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	393	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GCAGAATTTCGGAGTCTTGAC	0.373													G|||	433	0.0864617	0.0023	0.1686	5008	,	,		15054	0.0883		0.0815	False		,,,				2504	0.1452																0								G	,,	70,4332	61.1+/-98.1	1,68,2132	52.0	52.0	52.0		1179,1107,1179	-4.4	1.0	11	dbSNP_131	52	637,7953	159.7+/-212.9	25,587,3683	no	coding-synonymous,coding-synonymous,coding-synonymous	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	26,655,5815	AA,AG,GG		7.4156,1.5902,5.4418	,,	393/539,369/555,393/579	89088168	707,12285	2201	4295	6496	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1179C>T	11.37:g.89088168G>A			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																				0.373	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	
NR2C1	7181	hgsc.bcm.edu;ucsc.edu	37	12	95452258	95452258	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:95452258A>T	ENST00000333003.5	-	5	702	c.372T>A	c.(370-372)caT>caA	p.H124Q	NR2C1_ENST00000330677.7_Missense_Mutation_p.H124Q|NR2C1_ENST00000393101.3_Missense_Mutation_p.H124Q|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	124	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGCTCCATAATGACGTCCTA	0.303																																																	0													54.0	56.0	55.0					12																	95452258		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.372T>A	12.37:g.95452258A>T	ENSP00000333275:p.His124Gln		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472427	0.63737	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.98889	-5.21;-5.21;-5.21	5.46	4.32	0.51571	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.99391	4.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.989;0.999;0.994	D	0.97909	1.0307	10	0.87932	D	0	.	9.794	0.40724	0.8564:0.0:0.1436:0.0	.	124;124;124;124	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	Q	124	ENSP00000333275:H124Q;ENSP00000376813:H124Q;ENSP00000328843:H124Q	ENSP00000328843:H124Q	H	-	3	2	NR2C1	93976389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.365000	0.34182	0.920000	0.36970	0.454000	0.30748	CAT		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2		NM_003297	
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113348901	113348901	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:113348901A>G	ENST00000202917.5	+	3	778	c.515A>G	c.(514-516)aAg>aGg	p.K172R	OAS1_ENST00000551241.1_Missense_Mutation_p.K172R|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.K172R|OAS1_ENST00000452357.2_Missense_Mutation_p.K172R	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	172					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATCTATGTCAAGCTCATCGAG	0.512																																																	0													94.0	82.0	86.0					12																	113348901		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.515A>G	12.37:g.113348901A>G	ENSP00000202917:p.Lys172Arg		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.686|4.686	0.127551|0.127551	0.08981|0.08981	.|.	.|.	ENSG00000089127|ENSG00000089127	ENST00000549820|ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	.|T;T;T;T;T	.|0.08984	.|3.03;3.03;3.03;3.03;3.03	4.31|4.31	-3.05|-3.05	0.05396|0.05396	.|-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.|3.318120	.|0.00953	.|N	.|0.002989	.|T	.|0.05044	.|0.0135	N|N	0.16602|0.16602	0.42|0.42	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.001;0.0	.|B;B;B;B;B	.|0.09377	.|0.001;0.004;0.001;0.003;0.001	.|T	.|0.34428	.|-0.9829	.|10	.|0.16420	.|T	.|0.52	.|1.2721	5.031|5.031	0.14409|0.14409	0.3557:0.0:0.4749:0.1694|0.3557:0.0:0.4749:0.1694	.|.	.|172;172;172;172;172	.|E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.|.;.;OAS1_HUMAN;.;.	.|R	-1|172;172;172;172;172;168	.|ENSP00000202917:K172R;ENSP00000388001:K172R;ENSP00000415721:K172R;ENSP00000448790:K172R;ENSP00000448348:K168R	.|ENSP00000202917:K172R	.|K	+|+	.|2	.|0	OAS1|OAS1	111833284|111833284	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.056000|0.056000	0.15407|0.15407	-0.900000|-0.900000	0.04097|0.04097	-0.678000|-0.678000	0.05224|0.05224	0.459000|0.459000	0.35465|0.35465	.|AAG		0.512	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			
OR2T29	343563	hgsc.bcm.edu	37	1	248722722	248722722	+	Missense_Mutation	SNP	T	T	C	rs199528787	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:248722722T>C	ENST00000328570.3	-	1	75	c.71A>G	c.(70-72)cAa>cGa	p.Q24R	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTTTGGATTGTCTGAAGAG	0.493													.|||	2997	0.598442	0.5877	0.6455	5008	,	,		17311	0.5228		0.7247	False		,,,				2504	0.5276																0													51.0	31.0	38.0					1																	248722722		2197	4234	6431	SO:0001583	missense	343563				CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.71A>G	1.37:g.248722722T>C	ENSP00000331774:p.Gln24Arg			Missense_Mutation	SNP	ENST00000328570.3	37	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	t	2.580	-0.297595	0.05532	.	.	ENSG00000182783	ENST00000328570	T	0.00321	8.11	2.73	2.73	0.32206	.	0.522929	0.16025	N	0.233106	T	0.00144	0.0004	N	0.16656	0.425	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.01416	-1.1360	9	0.37606	T	0.19	.	8.6547	0.34055	0.0:0.0:0.0:1.0	.	24	Q8NH02	O2T29_HUMAN	R	24	ENSP00000331774:Q24R	ENSP00000331774:Q24R	Q	-	2	0	OR2T29	246789345	0.000000	0.05858	0.889000	0.34880	0.103000	0.19146	-1.412000	0.02476	1.126000	0.42016	0.165000	0.16767	CAA		0.493	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1		NM_001004694	
PAPD7	11044	hgsc.bcm.edu;ucsc.edu	37	5	6749688	6749688	+	Silent	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:6749688C>A	ENST00000230859.6	+	9	984	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	515					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGAATCATCAAAGTAACTC	0.483																																					NSCLC(7;212 333 5667 23379 46547)												0													158.0	164.0	162.0					5																	6749688		2203	4300	6503	SO:0001819	synonymous_variant	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.855C>A	5.37:g.6749688C>A			A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	CCDS3871.1																																																																																				0.483	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1		NM_006999	
PDZD2	23037	hgsc.bcm.edu	37	5	31799371	31799371	+	Missense_Mutation	SNP	G	G	A	rs116598198	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:31799371G>A	ENST00000438447.1	+	2	404	c.16G>A	c.(16-18)Gac>Aac	p.D6N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D6N			O15018	PDZD2_HUMAN	PDZ domain containing 2	6					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATCACCCAGGACAATGCCGT	0.672													G|||	15	0.00299521	0.0	0.0043	5008	,	,		18035	0.0		0.0119	False		,,,				2504	0.0																0								G	ASN/ASP	12,4394	19.1+/-41.9	0,12,2191	41.0	41.0	41.0		16	5.7	1.0	5	dbSNP_132	41	116,8484	60.2+/-122.0	1,114,4185	yes	missense	PDZD2	NM_178140.2	23	1,126,6376	AA,AG,GG		1.3488,0.2724,0.9842	probably-damaging	6/2840	31799371	128,12878	2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.16G>A	5.37:g.31799371G>A	ENSP00000402033:p.Asp6Asn		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	G	32	5.190266	0.94923	0.002724	0.013488	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000513910;ENST00000282493	T;T	0.70164	-0.46;-0.46	5.67	5.67	0.87782	.	0.000000	0.45606	D	0.000357	T	0.62527	0.2435	N	0.14661	0.345	0.44966	D	0.997988	D	0.89917	1.0	D	0.69654	0.965	T	0.72818	-0.4178	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	6	O15018	PDZD2_HUMAN	N	6	ENSP00000402033:D6N;ENSP00000282493:D6N	ENSP00000282493:D6N	D	+	1	0	PDZD2	31835128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.598000	0.74122	2.661000	0.90470	0.655000	0.94253	GAC		0.672	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			
PIGT	51604	hgsc.bcm.edu	37	20	44054403	44054403	+	Silent	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr20:44054403A>C	ENST00000279036.6	+	12	1754	c.1674A>C	c.(1672-1674)acA>acC	p.T558T	PIGT_ENST00000372689.5_Silent_p.T491T|PIGT_ENST00000545755.1_Silent_p.T296T|PIGT_ENST00000543458.2_Silent_p.T502T|PIGT_ENST00000279035.9_Silent_p.T456T|PIGT_ENST00000535404.1_Silent_p.T403T|PIGT_ENST00000341555.5_Silent_p.T364T	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	558					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.T558T(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGCCCCGCACAGGTGGCCTGG	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)											38.0	33.0	34.0					20																	44054403		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1674A>C	20.37:g.44054403A>C			B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																				0.622	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2		NM_015937	
POLQ	10721	hgsc.bcm.edu	37	3	121207099	121207099	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:121207099T>A	ENST00000264233.5	-	16	4807	c.4679A>T	c.(4678-4680)gAa>gTa	p.E1560V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1560					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCCATTTCTGAAAATAT	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													56.0	57.0	57.0					3																	121207099		2203	4299	6502	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4679A>T	3.37:g.121207099T>A	ENSP00000264233:p.Glu1560Val		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473368	0.63737	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58210	0.35	6.17	6.17	0.99709	.	0.202471	0.50627	D	0.000105	T	0.62466	0.2430	L	0.34521	1.04	0.29325	N	0.867112	D;D	0.76494	0.993;0.999	P;D	0.65010	0.881;0.931	T	0.62723	-0.6794	10	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1560;732	O75417;O75417-2	DPOLQ_HUMAN;.	V	1183;1560;1696	ENSP00000264233:E1560V	ENSP00000264233:E1560V	E	-	2	0	POLQ	122689789	1.000000	0.71417	0.978000	0.43139	0.694000	0.40290	4.249000	0.58766	2.371000	0.80710	0.533000	0.62120	GAA		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420	
PTCH1	5727	hgsc.bcm.edu	37	9	98240363	98240363	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:98240363G>T	ENST00000331920.6	-	9	1620	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	PTCH1_ENST00000375274.2_Missense_Mutation_p.R440S|PTCH1_ENST00000421141.1_Missense_Mutation_p.R290S|PTCH1_ENST00000437951.1_Missense_Mutation_p.R375S|PTCH1_ENST00000418258.1_Missense_Mutation_p.R290S|PTCH1_ENST00000430669.2_Missense_Mutation_p.R375S|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000429896.2_Missense_Mutation_p.R290S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	441	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTGGCCACGCGGATGACACTG	0.517																																																	0													185.0	148.0	160.0					9																	98240363		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1321C>A	9.37:g.98240363G>T	ENSP00000332353:p.Arg441Ser		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890865	0.72524	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.91521	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.86	5.63	5.63	0.86233	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	L	0.51914	1.62	0.58432	D	0.999998	D;P;D;P	0.89917	1.0;0.747;0.999;0.787	D;P;D;P	0.91635	0.999;0.493;0.989;0.627	D	0.90334	0.4354	10	0.22109	T	0.4	-12.5345	14.1182	0.65169	0.0:0.0:0.7281:0.2719	.	290;375;440;441	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	S	441;375;290;290;375;290;440;158	ENSP00000332353:R441S;ENSP00000389744:R375S;ENSP00000399981:R290S;ENSP00000396135:R290S;ENSP00000410287:R375S;ENSP00000414823:R290S;ENSP00000364423:R440S;ENSP00000364420:R158S	ENSP00000332353:R441S	R	-	1	0	PTCH1	97280184	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	2.831000	0.48144	2.669000	0.90835	0.655000	0.94253	CGC		0.517	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	
RANBP3	8498	hgsc.bcm.edu	37	19	5923257	5923257	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:5923257A>C	ENST00000340578.6	-	13	1214	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	RANBP3_ENST00000034275.8_Missense_Mutation_p.L318W|RANBP3_ENST00000541471.1_Missense_Mutation_p.L258W|RANBP3_ENST00000439268.2_Missense_Mutation_p.L381W|RANBP3_ENST00000591092.1_Missense_Mutation_p.L313W	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	386	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CACTTTTTCCAACAAACACTT	0.567																																																	0													118.0	122.0	121.0					19																	5923257		1966	4154	6120	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1157T>G	19.37:g.5923257A>C	ENSP00000341483:p.Leu386Trp		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650326	0.87958	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.41400	1.02;1.01;1.76;1.0	5.59	5.59	0.84812	Pleckstrin homology-type (1);Ran binding protein 1 (2);	0.000000	0.64402	D	0.000001	T	0.72890	0.3517	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.79325	-0.1850	10	0.46703	T	0.11	-12.854	13.7176	0.62708	1.0:0.0:0.0:0.0	.	258;381;258;313;318;381;386	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	W	386;381;318;317;258	ENSP00000341483:L386W;ENSP00000404837:L381W;ENSP00000034275:L318W;ENSP00000445071:L258W	ENSP00000034275:L318W	L	-	2	0	RANBP3	5874257	1.000000	0.71417	0.471000	0.27229	0.982000	0.71751	8.850000	0.92190	2.133000	0.65898	0.379000	0.24179	TTG		0.567	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1		NM_007322	
RLF	6018	hgsc.bcm.edu	37	1	40627266	40627266	+	Silent	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:40627266G>C	ENST00000372771.4	+	1	222	c.195G>C	c.(193-195)gtG>gtC	p.V65V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	65					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCAAGAGGTGTCGGAGGTCT	0.667																																																	0													77.0	81.0	80.0					1																	40627266		2203	4300	6503	SO:0001819	synonymous_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.195G>C	1.37:g.40627266G>C			Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	CCDS448.1																																																																																				0.667	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421	
RSPH10B	222967	hgsc.bcm.edu	37	7	5983063	5983063	+	Missense_Mutation	SNP	C	C	T	rs148485394	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr7:5983063C>T	ENST00000405415.1	-	14	2036	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	RSPH10B_ENST00000337579.3_Missense_Mutation_p.M550I|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.M550I|RSPH10B_ENST00000404406.1_Missense_Mutation_p.M550I|RSPH10B_ENST00000539903.1_3'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	550										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCATGTAACTCATAGAGTAGA	0.428																																																	0													30.0	29.0	29.0					7																	5983063		2164	4268	6432	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1650G>A	7.37:g.5983063C>T	ENSP00000385443:p.Met550Ile		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	420	0.19230769230769232	86	0.17479674796747968	87	0.24033149171270718	42	0.07342657342657342	205	0.2704485488126649	C	2.557	-0.302794	0.05495	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.38	2.48	0.30137	.	0.193985	0.44285	D	0.000471	T	0.00012	0.0000	L	0.60455	1.87	0.09310	P	0.99999528627	B;B;B	0.33288	0.406;0.068;0.112	B;B;B	0.28232	0.087;0.013;0.04	T	0.15378	-1.0439	9	0.40728	T	0.16	.	5.6003	0.17349	0.1944:0.6963:0.0:0.1094	.	251;550;409	B7Z298;P0C881;F5GXE3	.;R10B1_HUMAN;.	I	550;550;550;409;550	ENSP00000385443:M550I;ENSP00000384097:M550I;ENSP00000338556:M550I;ENSP00000400988:M550I	ENSP00000338556:M550I	M	-	3	0	RSPH10B	5949589	0.985000	0.35326	0.060000	0.19600	0.014000	0.08584	0.436000	0.21526	0.734000	0.32515	0.551000	0.68910	ATG		0.428	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2		NM_173565	
SDK2	54549	hgsc.bcm.edu	37	17	71361527	71361527	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:71361527G>T	ENST00000392650.3	-	38	5175	c.5175C>A	c.(5173-5175)agC>agA	p.S1725R	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S1706R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1725					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCTGGGAGCGCTGGGGGCTG	0.577																																																	0													28.0	25.0	26.0					17																	71361527		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5175C>A	17.37:g.71361527G>T	ENSP00000376421:p.Ser1725Arg		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235611	0.58886	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58210	0.35;0.35;0.35	4.95	-7.97	0.01139	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044941	0.85682	D	0.000000	T	0.70395	0.3219	M	0.88704	2.975	0.41118	D	0.985795	D;D;D	0.76494	0.999;0.994;0.992	D;D;D	0.78314	0.991;0.972;0.952	T	0.80634	-0.1295	10	0.72032	D	0.01	.	16.3939	0.83550	0.6679:0.0:0.3321:0.0	.	1725;1725;1706	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	R	1349;1725;1706;882;1725;66	ENSP00000376421:S1725R;ENSP00000373378:S1706R;ENSP00000407098:S882R	ENSP00000324967:S1725R	S	-	3	2	SDK2	68873122	0.000000	0.05858	0.372000	0.25991	0.854000	0.48673	-2.295000	0.01143	-1.644000	0.01517	-0.742000	0.03525	AGC		0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064	
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47162268	47162269	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	AT	AT	AT	-	AT	AT	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:47162268_47162269delAT	ENST00000409792.3	-	3	3899_3900	c.3857_3858delAT	c.(3856-3858)tatfs	p.Y1286fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1286					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATTTTGCTGATACTTGTGTCC	0.48			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3857_3858delAT	3.37:g.47162268_47162269delAT	ENSP00000386759:p.Tyr1286fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.480	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SIRT5	23408	hgsc.bcm.edu	37	6	13601129	13601129	+	Missense_Mutation	SNP	G	G	A	rs146449652	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr6:13601129G>A	ENST00000606117.1	+	9	1101	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	SIRT5_ENST00000397350.2_Missense_Mutation_p.V161M|SIRT5_ENST00000359782.3_Missense_Mutation_p.V251M|SIRT5_ENST00000379262.4_Missense_Mutation_p.V269M	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGCCAGGGGCGTGCCAGTGGC	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18039	0.0		0.001	False		,,,				2504	0.0																0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	71.0	60.0	64.0		751,481,805,805	4.2	0.4	6	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SIRT5	NM_001193267.2,NM_001242827.1,NM_012241.4,NM_031244.3	21,21,21,21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/293,161/203,269/311,269/300	13601129	3,13003	2203	4300	6503	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.805G>A	6.37:g.13601129G>A	ENSP00000476228:p.Val269Met			Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.32	3.805329	0.70682	2.27E-4	2.33E-4	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.07	4.18	0.49190	.	0.060048	0.64402	D	0.000003	T	0.45115	0.1326	M	0.70108	2.13	0.58432	D	0.999999	D;D;D	0.62365	0.99;0.983;0.991	P;P;P	0.54401	0.751;0.568;0.616	T	0.49409	-0.8943	10	0.66056	D	0.02	-36.0998	11.9821	0.53125	0.1395:0.0:0.8605:0.0	.	251;269;269	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	M	251;269;161;269	ENSP00000352830:V251M;ENSP00000368564:V269M;ENSP00000380509:V161M;ENSP00000368552:V269M	ENSP00000352830:V251M	V	+	1	0	SIRT5	13709108	1.000000	0.71417	0.376000	0.26042	0.972000	0.66771	5.199000	0.65152	2.514000	0.84764	0.591000	0.81541	GTG		0.577	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			
SLCO2A1	6578	hgsc.bcm.edu	37	3	133674025	133674025	+	Missense_Mutation	SNP	C	C	T	rs202244173		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:133674025C>T	ENST00000310926.4	-	4	683	c.410G>A	c.(409-411)cGc>cAc	p.R137H	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGCCTGCAAGCGGCTGTTGTT	0.637																																																	0													44.0	44.0	44.0					3																	133674025		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.410G>A	3.37:g.133674025C>T	ENSP00000311291:p.Arg137His		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	0.415	-0.911160	0.02434	.	.	ENSG00000174640	ENST00000310926	T	0.39406	1.08	5.5	-11.0	0.00169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36529	-0.9744	10	0.37606	T	0.19	.	8.7006	0.34323	0.2149:0.1949:0.0:0.5901	.	137	Q92959	SO2A1_HUMAN	H	137	ENSP00000311291:R137H	ENSP00000311291:R137H	R	-	2	0	SLCO2A1	135156715	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.320000	0.02700	-4.546000	0.00043	-2.754000	0.00123	CGC		0.637	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1		NM_005630	
SLFN14	342618	hgsc.bcm.edu	37	17	33875669	33875669	+	Silent	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:33875669G>T	ENST00000415846.3	-	4	2363	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A		NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	776							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						GCAGAGCCTGGGCACACGTTG	0.463																																																	0													105.0	82.0	89.0					17																	33875669		692	1591	2283	SO:0001819	synonymous_variant	342618				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.2328C>A	17.37:g.33875669G>T			B2RTW9	Silent	SNP	ENST00000415846.3	37	CCDS45650.1																																																																																				0.463	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1		NM_001129820	
THBS2	7058	hgsc.bcm.edu;ucsc.edu	37	6	169634863	169634863	+	Silent	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr6:169634863C>T	ENST00000366787.3	-	11	1866	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	539	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACATCTGACGCTCCTGCACAT	0.632																																					Esophageal Squamous(91;219 1934 18562 44706)												0													57.0	56.0	57.0					6																	169634863		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1617G>A	6.37:g.169634863C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247	
TP73	7161	hgsc.bcm.edu	37	1	3624323	3624323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:3624323C>T	ENST00000378295.4	+	4	552	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	TP73_ENST00000378280.1_Nonsense_Mutation_p.Q84*|TP73_ENST00000357733.3_Nonsense_Mutation_p.Q133*|TP73_ENST00000604074.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000603362.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000346387.4_Nonsense_Mutation_p.Q133*|TP73_ENST00000378290.4_Nonsense_Mutation_p.Q62*|TP73_ENST00000378285.1_Nonsense_Mutation_p.Q84*|TP73_ENST00000604479.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000354437.4_Nonsense_Mutation_p.Q133*|TP73_ENST00000378288.4_Nonsense_Mutation_p.Q84*	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	133	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CACTTTCCAGCAGTCCAGCAC	0.662																																																	0													51.0	47.0	48.0					1																	3624323		2202	4300	6502	SO:0001587	stop_gained	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.397C>T	1.37:g.3624323C>T	ENSP00000367545:p.Gln133*		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Nonsense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	38	7.203745	0.98132	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-19.9436	16.3935	0.83548	0.0:1.0:0.0:0.0	.	.	.	.	X	133;133;133;133;84;84;84;62	.	ENSP00000340740:Q133X	Q	+	1	0	TP73	3614183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.671000	0.83941	2.096000	0.63516	0.491000	0.48974	CAG		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427	
TPP1	1200	hgsc.bcm.edu	37	11	6638044	6638044	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:6638044C>T	ENST00000299427.6	-	7	794	c.734G>A	c.(733-735)cGc>cAc	p.R245H	TPP1_ENST00000533371.1_Missense_Mutation_p.R2H|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	ACCGAAGAGGCGCATGAACTG	0.597																																																	0													103.0	104.0	104.0					11																	6638044		2201	4296	6497	SO:0001583	missense	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.734G>A	11.37:g.6638044C>T	ENSP00000299427:p.Arg245His		Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804242	0.31869	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.99005	-5.32;-5.17	4.48	-2.76	0.05896	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.885835	0.09869	N	0.745169	D	0.96620	0.8897	L	0.52206	1.635	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	D	0.92064	0.5659	10	0.46703	T	0.11	-4.2063	6.4955	0.22140	0.1218:0.3384:0.0:0.5397	.	245	O14773	TPP1_HUMAN	H	245;2	ENSP00000299427:R245H;ENSP00000437066:R2H	ENSP00000299427:R245H	R	-	2	0	TPP1	6594620	0.000000	0.05858	0.991000	0.47740	0.974000	0.67602	-2.281000	0.01157	-0.422000	0.07405	0.455000	0.32223	CGC		0.597	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			
Unknown	0	hgsc.bcm.edu	37	11	89706921	89706921	+	IGR	SNP	A	A	G	rs4108238		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:89706921A>G								TRIM49D1 (51986 upstream) : TRIM49C (57352 downstream)																							CCTCTGGGTCAAGTTGGGGTG	0.388																																																	0													104.0	87.0	90.0					11																	89706921		122	528	650	SO:0001628	intergenic_variant	120146																															11.37:g.89706921A>G				Missense_Mutation	SNP		37																																																																																				0	0.388									
TTYH2	94015	hgsc.bcm.edu;ucsc.edu	37	17	72256287	72256287	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:72256287C>T	ENST00000269346.4	+	14	1618	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	CTD-2514K5.4_ENST00000583018.1_RNA|TTYH2_ENST00000441391.2_Missense_Mutation_p.A194V|TTYH2_ENST00000529107.1_Missense_Mutation_p.A494V	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	515						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGCATGAGAGCCACCTACCTG	0.567																																																	0													171.0	156.0	161.0					17																	72256287		2203	4300	6503	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1544C>T	17.37:g.72256287C>T	ENSP00000269346:p.Ala515Val		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081015	0.76528	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.54279	0.58;0.58;0.58	4.55	4.55	0.56014	.	0.060960	0.64402	D	0.000005	T	0.51958	0.1705	M	0.66939	2.045	0.48135	D	0.999597	P;P	0.45348	0.704;0.856	B;B	0.38803	0.175;0.282	T	0.63497	-0.6624	10	0.72032	D	0.01	-20.6877	16.2542	0.82503	0.0:1.0:0.0:0.0	.	494;515	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	V	515;494;194	ENSP00000269346:A515V;ENSP00000433089:A494V;ENSP00000394576:A194V	ENSP00000269346:A515V	A	+	2	0	TTYH2	69767882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.055000	0.76656	2.364000	0.80123	0.650000	0.86243	GCC		0.567	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			
UIMC1	51720	hgsc.bcm.edu	37	5	176338345	176338345	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:176338345C>A	ENST00000377227.4	-	11	1775	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Missense_Mutation_p.G382V|UIMC1_ENST00000377219.2_Missense_Mutation_p.G549V|UIMC1_ENST00000511320.1_Missense_Mutation_p.G548V			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	548	Zinc-finger-like region.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCTGTCCCACTGTCACT	0.388																																																	0													172.0	157.0	162.0					5																	176338345		2203	4300	6503	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1643G>T	5.37:g.176338345C>A	ENSP00000366434:p.Gly548Val		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370664	0.42003	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.31	4.44	0.53790	.	0.355531	0.26792	N	0.022472	T	0.12860	0.0312	L	0.33485	1.01	0.29960	N	0.819476	B;B;B	0.27498	0.145;0.18;0.105	B;B;B	0.25884	0.064;0.064;0.044	T	0.09143	-1.0688	10	0.31617	T	0.26	.	10.2781	0.43523	0.1526:0.7005:0.1469:0.0	.	548;178;470	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	V	548;549;548;382;471;179	ENSP00000366434:G548V;ENSP00000366425:G549V;ENSP00000421926:G548V;ENSP00000427480:G382V	ENSP00000314909:G179V	G	-	2	0	UIMC1	176270951	0.000000	0.05858	0.790000	0.31976	0.921000	0.55340	0.386000	0.20702	1.221000	0.43506	0.650000	0.86243	GGG		0.388	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290	
UNC13C	440279	hgsc.bcm.edu	37	15	54435838	54435838	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr15:54435838G>T	ENST00000260323.11	+	3	3028	c.3028G>T	c.(3028-3030)Gat>Tat	p.D1010Y	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1010Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1010Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1010					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGTGGCAATGATTTGGATGC	0.388																																																	0													148.0	139.0	142.0					15																	54435838		1885	4124	6009	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3028G>T	15.37:g.54435838G>T	ENSP00000260323:p.Asp1010Tyr		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219309	0.22373	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.29;-1.31	5.57	5.57	0.84162	.	.	.	.	.	T	0.70290	0.3207	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.66180	-0.5988	9	0.72032	D	0.01	.	12.2205	0.54431	0.0:0.0:0.7309:0.2691	.	1010	Q8NB66	UN13C_HUMAN	Y	1010	ENSP00000260323:D1010Y;ENSP00000438156:D1010Y;ENSP00000442569:D1010Y	ENSP00000260323:D1010Y	D	+	1	0	UNC13C	52223130	0.983000	0.35010	0.494000	0.27515	0.748000	0.42578	2.677000	0.46892	2.636000	0.89361	0.484000	0.47621	GAT		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166.0	158.0	161.0					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
VPS13A	23230	hgsc.bcm.edu	37	9	79910474	79910474	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:79910474T>A	ENST00000360280.3	+	33	3784	c.3524T>A	c.(3523-3525)tTt>tAt	p.F1175Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.F1175Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1136Y|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1175Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1175					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAGATAATTTTCAGGCAGCT	0.358																																																	0													43.0	44.0	44.0					9																	79910474		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3524T>A	9.37:g.79910474T>A	ENSP00000353422:p.Phe1175Tyr		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795262	0.90453	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.70749	0.03;-0.51;-0.09;0.02	5.5	5.5	0.81552	.	0.133960	0.52532	D	0.000080	D	0.84768	0.5545	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.999	D	0.87008	0.2121	10	0.87932	D	0	.	15.9147	0.79503	0.0:0.0:0.0:1.0	.	1136;1175;1175;1175	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	1175;1136;1175;1175	ENSP00000365821:F1175Y;ENSP00000365823:F1136Y;ENSP00000353422:F1175Y;ENSP00000349985:F1175Y	ENSP00000349985:F1175Y	F	+	2	0	VPS13A	79100294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.543000	0.82106	2.227000	0.72691	0.460000	0.39030	TTT		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186	
WWP2	11060	hgsc.bcm.edu	37	16	69964089	69964089	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:69964089G>C	ENST00000359154.2	+	13	1474	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G458A|WWP2_ENST00000356003.2_Missense_Mutation_p.G458A|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G19A|WWP2_ENST00000542271.1_Missense_Mutation_p.G342A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	458	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCGAGGGGGTGCGATAC	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	68.0	69.0					16																	69964089		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1373G>C	16.37:g.69964089G>C	ENSP00000352069:p.Gly458Ala	1118	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495510	0.85069	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.52	5.52	0.82312	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99063	1.0831	9	.	.	.	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	458	O00308	WWP2_HUMAN	A	458;19;458;458;345;342	ENSP00000352069:G458A;ENSP00000396871:G458A;ENSP00000348283:G458A;ENSP00000445616:G342A	.	G	+	2	0	WWP2	68521590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGG		0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1		NM_007014	
ZCCHC6	79670	hgsc.bcm.edu;ucsc.edu	37	9	88903626	88903626	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:88903626T>C	ENST00000375963.3	-	27	4626	c.4454A>G	c.(4453-4455)aAa>aGa	p.K1485R	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.K385R|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.K1447R|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.K774R|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K1249R	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1485					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CGCTGAGGCTTTTCCCTGAGT	0.443																																																	0													119.0	95.0	103.0					9																	88903626		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4454A>G	9.37:g.88903626T>C	ENSP00000365130:p.Lys1485Arg		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971712	0.34754	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.56103	0.48;0.92;0.91;0.89	5.32	4.19	0.49359	.	0.176473	0.38837	N	0.001557	T	0.32466	0.0830	N	0.16478	0.41	0.29429	N	0.859991	B;B;B	0.27997	0.002;0.197;0.029	B;B;B	0.30716	0.003;0.119;0.013	T	0.24261	-1.0165	10	0.08381	T	0.77	-3.7492	10.1418	0.42740	0.0:0.0802:0.0:0.9198	.	1447;1249;1485	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	R	774;1249;1447;385;1485	ENSP00000277141:K774R;ENSP00000365127:K1249R;ENSP00000365128:K1447R;ENSP00000365130:K1485R	ENSP00000277141:K774R	K	-	2	0	ZCCHC6	88093446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.462000	0.45049	1.043000	0.40175	0.482000	0.46254	AAA		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617	
ZNF248	57209	hgsc.bcm.edu;ucsc.edu	37	10	38121983	38121983	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr10:38121983A>T	ENST00000395867.3	-	6	850	c.300T>A	c.(298-300)ttT>ttA	p.F100L	ZNF248_ENST00000374648.3_Missense_Mutation_p.F100L|ZNF248_ENST00000357328.4_Missense_Mutation_p.F100L|ZNF248_ENST00000494133.1_5'UTR|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GAAGCTCCCAAAAATGGTCAT	0.363																																																	0													79.0	74.0	76.0					10																	38121983		2203	4300	6503	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.300T>A	10.37:g.38121983A>T	ENSP00000379208:p.Phe100Leu		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	A	6.466	0.454175	0.12283	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873	T;T;T;T	0.03553	3.89;5.91;3.89;5.78	4.86	1.18	0.20946	.	0.000000	0.48767	D	0.000177	T	0.01092	0.0036	N	0.02225	-0.63	0.33510	D	0.590973	B;B	0.15930	0.005;0.015	B;B	0.09377	0.003;0.004	T	0.42120	-0.9470	10	0.05620	T	0.96	.	3.0372	0.06126	0.6263:0.0:0.1945:0.1792	.	100;100	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	L	100	ENSP00000379208:F100L;ENSP00000363778:F100L;ENSP00000349882:F100L;ENSP00000379214:F100L	ENSP00000349882:F100L	F	-	3	2	ZNF248	38161989	0.011000	0.17503	1.000000	0.80357	0.567000	0.35839	0.942000	0.29017	0.398000	0.25338	0.460000	0.39030	TTT		0.363	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1		NM_021045	
ZNF43	7594	hgsc.bcm.edu	37	19	21992281	21992281	+	Silent	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:21992281A>C	ENST00000354959.4	-	4	727	c.558T>G	c.(556-558)ctT>ctG	p.L186L	ZNF43_ENST00000595461.1_Silent_p.L180L|ZNF43_ENST00000598381.1_Silent_p.L180L|ZNF43_ENST00000594012.1_Silent_p.L180L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTAGATGTGGAAGCATGCAAA	0.313																																																	0													43.0	43.0	43.0					19																	21992281		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.558T>G	19.37:g.21992281A>C			A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423	
ZNF304	57343	hgsc.bcm.edu	37	19	57867886	57867886	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:57867886T>C	ENST00000282286.5	+	3	822	c.649T>C	c.(649-651)Tat>Cat	p.Y217H	ZNF304_ENST00000598744.1_Missense_Mutation_p.Y175H|ZNF304_ENST00000443917.2_Missense_Mutation_p.Y264H|ZNF304_ENST00000391705.3_Missense_Mutation_p.Y217H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y217H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAAGGAGACTATGATGGACA	0.507																																																	1	Substitution - Missense(1)	ovary(1)											108.0	87.0	94.0					19																	57867886		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.649T>C	19.37:g.57867886T>C	ENSP00000282286:p.Tyr217His			Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	t	0.167	-1.075261	0.01903	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.06068	3.35;3.35;3.35	3.45	-0.0844	0.13690	.	.	.	.	.	T	0.00754	0.0025	N	0.00014	-2.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46400	-0.9194	9	0.02654	T	1	.	4.5128	0.11919	0.1724:0.6023:0.0:0.2253	.	217;264	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	217;217;264	ENSP00000282286:Y217H;ENSP00000375586:Y217H;ENSP00000401642:Y264H	ENSP00000282286:Y217H	Y	+	1	0	ZNF304	62559698	0.000000	0.05858	0.005000	0.12908	0.382000	0.30200	-0.052000	0.11865	0.059000	0.16252	0.451000	0.29950	TAT		0.507	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			
PI4KB	5298	hgsc.bcm.edu;ucsc.edu	37	1	151261955	151261955	+	IGR	SNP	T	T	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:151261955T>G	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F858C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAGTGTCTTTAAGTGCCCG	0.537																																					Colon(154;765 1838 9854 28443 37492)												0													168.0	145.0	153.0					1																	151261955		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261955T>G			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.067982|4.067982	0.76301|0.76301	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.000000|.	0.36002|.	N|.	0.002842|.	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.66744|0.66744	-0.5846|-0.5846	10|5	0.87932|.	D|.	0|.	-12.7306|-12.7306	14.0604|14.0604	0.64797|0.64797	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	858;858|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	C|V	858|461	ENSP00000336620:F858C;ENSP00000319829:F858C;ENSP00000357874:F858C|.	ENSP00000319829:F858C|.	F|L	+|+	2|1	0|2	ZNF687|ZNF687	149528579|149528579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.819000|7.819000	0.86621|0.86621	2.153000|2.153000	0.67306|0.67306	0.459000|0.459000	0.35465|0.35465	TTT|TTA		0.537	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651	
