#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ASPM	259266	hgsc.bcm.edu	37	1	197055989	197055989	+	Silent	SNP	A	A	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:197055989A>G	ENST00000367409.4	-	27	10531	c.10275T>C	c.(10273-10275)tcT>tcC	p.S3425S	ASPM_ENST00000294732.7_Silent_p.S1840S|ASPM_ENST00000367408.1_Silent_p.S1090S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3425					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTATAGAAGAATTCTTCT	0.323																																																	0													128.0	142.0	137.0					1																	197055989		2203	4296	6499	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10275T>C	1.37:g.197055989A>G		Somatic		WXS	SOLID	Phase_I	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
AIDA	64853	hgsc.bcm.edu	37	1	222843559	222843559	+	Missense_Mutation	SNP	T	T	A	rs200516684		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:222843559T>A	ENST00000340020.6	-	9	946	c.740A>T	c.(739-741)aAg>aTg	p.K247M	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.K223M|AIDA_ENST00000355727.2_Missense_Mutation_p.K165M	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	247					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTTTTTAGGCTTGTAGTGTTT	0.353																																																	0													60.0	57.0	58.0					1																	222843559		2203	4300	6503	SO:0001583	missense	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.740A>T	1.37:g.222843559T>A	ENSP00000339161:p.Lys247Met	Somatic		WXS	SOLID	Phase_I	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370995	0.61624	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.9	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.76574	2.34	0.80722	D	1	B;B	0.18863	0.025;0.031	B;B	0.13407	0.008;0.009	T	0.65022	-0.6269	9	0.87932	D	0	.	12.5154	0.56030	0.1246:0.0:0.0:0.8754	.	223;247	F5H715;Q96BJ3	.;AIDA_HUMAN	M	247;165;223	.	ENSP00000339161:K247M	K	-	2	0	AIDA	220910182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.001000	0.63946	2.250000	0.74265	0.533000	0.62120	AAG		0.353	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1		NM_022831	
ASXL1	171023	hgsc.bcm.edu	37	20	31024481	31024481	+	Silent	SNP	G	G	T	rs147326327		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr20:31024481G>T	ENST00000375687.4	+	13	4390	c.3966G>T	c.(3964-3966)ccG>ccT	p.P1322P	ASXL1_ENST00000306058.5_Silent_p.P1317P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1322					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCGGACCCGATGCCTCTTC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													41.0	44.0	43.0					20																	31024481		2203	4300	6503	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3966G>T	20.37:g.31024481G>T		Somatic		WXS	SOLID	Phase_I	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338	
PRRC2C	23215	hgsc.bcm.edu	37	1	171526904	171526904	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:171526904C>A	ENST00000338920.4	+	19	5884	c.5647C>A	c.(5647-5649)Cca>Aca	p.P1883T	PRRC2C_ENST00000367742.3_Missense_Mutation_p.P1885T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1883T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1885T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1883	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										agcctcttccccagctgcccc	0.612																																																	0													49.0	39.0	43.0					1																	171526904		1763	3310	5073	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5647C>A	1.37:g.171526904C>A	ENSP00000343629:p.Pro1883Thr	Somatic		WXS	SOLID	Phase_I	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	6.730	0.503457	0.12822	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01787	4.65;4.64;4.65;4.65	4.22	1.2	0.21068	.	.	.	.	.	T	0.00271	0.0008	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38972	-0.9636	9	0.22109	T	0.4	.	2.553	0.04753	0.2018:0.5136:0.1801:0.1045	.	1883	Q9Y520-4	.	T	1885;1837;1883;1885;1883;1640	ENSP00000375928:P1885T;ENSP00000410219:P1883T;ENSP00000356716:P1885T;ENSP00000343629:P1883T	ENSP00000343629:P1883T	P	+	1	0	PRRC2C	169793528	0.002000	0.14202	0.013000	0.15412	0.124000	0.20399	-0.227000	0.09126	0.286000	0.22352	0.549000	0.68633	CCA		0.612	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
BIRC6	57448	hgsc.bcm.edu	37	2	32641040	32641040	+	Missense_Mutation	SNP	C	C	T	rs34996177	byFrequency	TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr2:32641040C>T	ENST00000421745.2	+	10	2815	c.2681C>T	c.(2680-2682)aCg>aTg	p.T894M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	894					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAGAAAAAACGTCTGACATT	0.393													C|||	52	0.0103834	0.0	0.0187	5008	,	,		19504	0.0		0.0338	False		,,,				2504	0.0051				Pancreas(94;175 1509 16028 18060 45422)												0								C	MET/THR	23,4383	30.8+/-60.4	0,23,2180	70.0	71.0	71.0		2681	4.7	0.9	2	dbSNP_126	71	244,8356	97.2+/-158.9	4,236,4060	yes	missense	BIRC6	NM_016252.3	81	4,259,6240	TT,TC,CC		2.8372,0.522,2.0529	benign	894/4858	32641040	267,12739	2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2681C>T	2.37:g.32641040C>T	ENSP00000393596:p.Thr894Met	Somatic		WXS	SOLID	Phase_I	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	35	0.016025641025641024	0	0.0	8	0.022099447513812154	0	0.0	27	0.03562005277044855	C	7.633	0.679263	0.14907	0.00522	0.028372	ENSG00000115760	ENST00000421745	T	0.63255	-0.03	5.76	4.65	0.58169	.	0.293106	0.32987	N	0.005409	T	0.13030	0.0316	N	0.14661	0.345	0.21915	N	0.999474	B	0.06786	0.001	B	0.04013	0.001	T	0.09574	-1.0668	10	0.48119	T	0.1	.	6.027	0.19660	0.6971:0.1902:0.1127:0.0	rs34996177;rs34996177	894	Q9NR09	BIRC6_HUMAN	M	894	ENSP00000393596:T894M	ENSP00000393596:T894M	T	+	2	0	BIRC6	32494544	0.974000	0.33945	0.920000	0.36463	0.795000	0.44927	2.015000	0.40961	1.072000	0.40860	0.655000	0.94253	ACG		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
CAPN12	147968	hgsc.bcm.edu;ucsc.edu	37	19	39225512	39225512	+	Splice_Site	SNP	T	T	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:39225512T>A	ENST00000328867.4	-	15	1995		c.e15-2		CAPN12_ENST00000601953.1_Splice_Site	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCTTCCTCCTAGTCCAGGAA	0.597																																																	0													77.0	65.0	69.0					19																	39225512		2197	4296	6493	SO:0001630	splice_region_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1687-2A>T	19.37:g.39225512T>A		Somatic		WXS	SOLID	Phase_I		Splice_Site	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023207	0.35701	.	.	ENSG00000182472	ENST00000328867	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4013	0.38435	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN12	43917352	0.998000	0.40836	0.400000	0.26346	0.017000	0.09413	3.475000	0.53136	1.737000	0.51674	0.459000	0.35465	.		0.597	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			Intron
CASP5	838	hgsc.bcm.edu;ucsc.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs	Somatic		WXS	SOLID	Phase_I	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347	
CEBPA	1050	hgsc.bcm.edu	37	19	33792387	33792387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:33792387G>A	ENST00000498907.2	-	1	1083	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	312	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q312del(5)|p.R306fs*48(3)|p.Q312*(3)|p.Q311_Q312insL(2)|p.Q312_K313insK(2)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.Q311_Q312insQQ(1)|p.Q311_Q312insF(1)|p.N307_Q312del(1)|p.Q311_Q312insQ(1)|p.Q311fs*11(1)|p.Q311_Q312insR(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					AGCACCTTCTGCTGCGTCTCC	0.647			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	24	Insertion - In frame(8)|Deletion - In frame(6)|Complex - deletion inframe(5)|Substitution - Nonsense(3)|Unknown(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(24)											53.0	53.0	53.0					19																	33792387		2203	4300	6503	SO:0001587	stop_gained	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.934C>T	19.37:g.33792387G>A	ENSP00000427514:p.Gln312*	Somatic		WXS	SOLID	Phase_I	A7LNP2|P78319|Q05CA4	Nonsense_Mutation	SNP	ENST00000498907.2	37	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081849	0.98051	.	.	ENSG00000245848	ENST00000498907	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000427514:Q312X	Q	-	1	0	CEBPA	38484227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.914000	0.87478	2.133000	0.65898	0.462000	0.41574	CAG		0.647	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1		NM_004364	
DNAH14	127602	hgsc.bcm.edu	37	1	225373072	225373072	+	Missense_Mutation	SNP	C	C	T	rs61851487	byFrequency	TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:225373072C>T	ENST00000445597.2	+	24	4334	c.4334C>T	c.(4333-4335)aCg>aTg	p.T1445M	DNAH14_ENST00000439375.2_Missense_Mutation_p.T1850M|DNAH14_ENST00000430092.1_Missense_Mutation_p.T1850M			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1445					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AAAGCATTAACGCTATTACCA	0.338													C|||	877	0.17512	0.1331	0.1902	5008	,	,		14696	0.3125		0.1133	False		,,,				2504	0.1431																0								C	MET/THR	179,1205		11,157,524	132.0	121.0	124.0		5549	-0.1	0.0	1	dbSNP_129	124	381,2801		16,349,1226	yes	missense	DNAH14	NM_001373.1	81	27,506,1750	TT,TC,CC		11.9736,12.9335,12.2646	possibly-damaging	1850/4516	225373072	560,4006	692	1591	2283	SO:0001583	missense	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.4334C>T	1.37:g.225373072C>T	ENSP00000409472:p.Thr1445Met	Somatic		WXS	SOLID	Phase_I	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37		360	0.16483516483516483	57	0.11585365853658537	55	0.15193370165745856	171	0.29895104895104896	77	0.10158311345646438	C	8.763	0.923986	0.18056	0.129335	0.119736	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375;ENST00000328556	T;T;T;T	0.35048	3.24;1.33;1.33;1.57	4.91	-0.12	0.13539	.	.	.	.	.	T	0.00012	0.0000	M	0.74647	2.275	0.80722	P	0.0	B	0.22276	0.067	B	0.16722	0.016	T	0.16041	-1.0416	8	0.52906	T	0.07	.	8.5999	0.33738	0.0:0.3252:0.0:0.6748	rs61851487	1850	Q0VDD8-4	.	M	1445;1850;1850;944	ENSP00000409472:T1445M;ENSP00000414402:T1850M;ENSP00000392061:T1850M;ENSP00000332424:T944M	ENSP00000332424:T944M	T	+	2	0	DNAH14	223439695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	-0.306000	0.08818	-0.438000	0.05819	ACG		0.338	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3		XM_059166	
GRM8	2918	hgsc.bcm.edu	37	7	126173363	126173363	+	Silent	SNP	A	A	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr7:126173363A>G	ENST00000339582.2	-	9	2881	c.2073T>C	c.(2071-2073)agT>agC	p.S691S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.S691S|GRM8_ENST00000444921.2_Silent_p.S691S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	691					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGATGCTGGACTAATGAACT	0.498										HNSCC(24;0.065)																																							0													95.0	79.0	84.0					7																	126173363		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2073T>C	7.37:g.126173363A>G		Somatic		WXS	SOLID	Phase_I	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.498	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			
KCNH1	3756	hgsc.bcm.edu	37	1	210857394	210857394	+	Silent	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:210857394C>T	ENST00000271751.4	-	11	2226	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	KCNH1_ENST00000367007.4_Silent_p.P706P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	733	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P733P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGGGTGGTCCGGGGGCAAGA	0.582																																																	1	Substitution - coding silent(1)	ovary(1)											47.0	50.0	49.0					1																	210857394		2203	4300	6503	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2199G>A	1.37:g.210857394C>T		Somatic		WXS	SOLID	Phase_I	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.582	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1		NM_002238	
KRT4	3851	hgsc.bcm.edu	37	12	53207990	53207990	+	Silent	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr12:53207990G>A	ENST00000293774.4	-	1	345	c.75C>T	c.(73-75)ccC>ccT	p.P25P	KRT4_ENST00000551956.1_5'UTR|KRT4_ENST00000458244.2_5'Flank			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AAACATCTCTGGGCTTGGCCC	0.557																																					Pancreas(190;284 2995 41444 45903)												0													59.0	64.0	63.0					12																	53207990		1916	4112	6028	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.75C>T	12.37:g.53207990G>A		Somatic		WXS	SOLID	Phase_I	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000293774.4	37																																																																																					0.557	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002272	
KMT2C	58508	hgsc.bcm.edu	37	7	151945071	151945072	+	Frame_Shift_Ins	INS	-	-	T	rs150073007|rs202184064		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr7:151945071_151945072insT	ENST00000262189.6	-	14	2665_2666	c.2447_2448insA	c.(2446-2448)tacfs	p.Y816fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.Y816fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	816					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y816fs*1(2)									TGACTGAGATGTAAGTTGTTGG	0.436																																																	2	Insertion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2448dupA	7.37:g.151945072_151945072dupT	ENSP00000262189:p.Tyr816fs	Somatic		WXS	SOLID	Phase_I	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	CCDS5931.1																																																																																				0.436	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
NCR2	9436	hgsc.bcm.edu	37	6	41304036	41304036	+	Silent	SNP	T	T	C			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr6:41304036T>C	ENST00000373089.5	+	2	352	c.264T>C	c.(262-264)gaT>gaC	p.D88D	NCR2_ENST00000373083.4_Silent_p.D88D|NCR2_ENST00000373086.3_Silent_p.D88D	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	88	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACGACCCTGATGCTGGCTTCT	0.512																																																	0													80.0	75.0	77.0					6																	41304036		2203	4300	6503	SO:0001819	synonymous_variant	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.264T>C	6.37:g.41304036T>C		Somatic		WXS	SOLID	Phase_I	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	CCDS4855.1																																																																																				0.512	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			
NLRC3	197358	hgsc.bcm.edu	37	16	3614350	3614350	+	RNA	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr16:3614350C>T	ENST00000301749.7	-	0	993				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S243S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGGAAGACCGAGCAGATGA	0.657																																																	1	Substitution - coding silent(1)	pancreas(1)											35.0	41.0	39.0					16																	3614350		2029	4185	6214			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614350C>T		Somatic		WXS	SOLID	Phase_I	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37																																																																																					0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene			NM_178844	
OR6C1	390321	hgsc.bcm.edu	37	12	55714409	55714410	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr12:55714409_55714410insG	ENST00000379668.2	+	1	64_65	c.26_27insG	c.(25-30)gagtttfs	p.F10fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAAATAACAGAGTTTATTCTTC	0.396																																																	0																																										SO:0001589	frameshift_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.27dupG	12.37:g.55714410_55714410dupG	ENSP00000368990:p.Phe10fs	Somatic		WXS	SOLID	Phase_I	B2RNM0	Frame_Shift_Ins	INS	ENST00000379668.2	37	CCDS31818.1																																																																																				0.396	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1		NM_001005182	
RABEP2	79874	hgsc.bcm.edu	37	16	28922429	28922429	+	Silent	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr16:28922429C>T	ENST00000358201.4	-	6	1554	c.966G>A	c.(964-966)cgG>cgA	p.R322R	RABEP2_ENST00000544477.1_Silent_p.R251R|RABEP2_ENST00000357573.6_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	322					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCATTGCTCCGTCTCAGGC	0.672																																					Pancreas(66;639 1284 10093 31061 49099)												0													55.0	67.0	63.0					16																	28922429		2146	4244	6390	SO:0001819	synonymous_variant	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.966G>A	16.37:g.28922429C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000358201.4	37	CCDS42140.1																																																																																				0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816	
SLC12A1	6557	hgsc.bcm.edu;ucsc.edu	37	15	48521422	48521422	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr15:48521422C>T	ENST00000558405.1	+	5	775	c.761C>T	c.(760-762)cCc>cTc	p.P254L	SLC12A1_ENST00000380993.3_Missense_Mutation_p.P254L|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P254L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P254L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	254					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTTTAGGGCCCGAGTTCGGT	0.423																																																	0													136.0	120.0	126.0					15																	48521422		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.761C>T	15.37:g.48521422C>T	ENSP00000453409:p.Pro254Leu	Somatic		WXS	SOLID	Phase_I	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	35	5.597554	0.96602	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99070	-5.39;-5.39;-5.39	6.08	6.08	0.98989	Amino acid permease domain (1);	0.051256	0.85682	N	0.000000	D	0.99366	0.9777	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	254;254;254	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	L	67;254;254;254	ENSP00000370381:P254L;ENSP00000379822:P254L;ENSP00000331550:P254L	ENSP00000331550:P254L	P	+	2	0	SLC12A1	46308714	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	CCC		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			
STX10	8677	hgsc.bcm.edu;ucsc.edu	37	19	13260576	13260576	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:13260576G>C	ENST00000587230.1	-	2	235	c.171C>G	c.(169-171)atC>atG	p.I57M	IER2_ENST00000588173.1_5'Flank|STX10_ENST00000589083.1_Missense_Mutation_p.I57M|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000343587.5_Missense_Mutation_p.I57M|IER2_ENST00000587885.1_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.I57M	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	57					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGTCCCACTCGATGCTGCGCA	0.647											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	80.0	83.0					19																	13260576		2203	4300	6503	SO:0001583	missense	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.171C>G	19.37:g.13260576G>C	ENSP00000466298:p.Ile57Met	Somatic	686	WXS	SOLID	Phase_I	A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.316810	0.60524	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	3.58	0.0525	0.14302	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.64402	U	0.000004	T	0.68054	0.2959	M	0.83852	2.665	0.40057	D	0.975846	D	0.56287	0.975	D	0.67725	0.953	T	0.65323	-0.6196	9	0.62326	D	0.03	.	2.1679	0.03842	0.3701:0.0:0.3898:0.2401	.	57	O60499	STX10_HUMAN	M	57	.	ENSP00000242770:I57M	I	-	3	3	STX10	13121576	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.142000	0.16096	0.244000	0.21351	-0.216000	0.12614	ATC		0.647	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1		NM_003765	
TEX2	55852	hgsc.bcm.edu	37	17	62291518	62291518	+	Silent	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr17:62291518G>A	ENST00000583097.1	-	2	232	c.60C>T	c.(58-60)gcC>gcT	p.A20A	TEX2_ENST00000258991.3_Silent_p.A20A|TEX2_ENST00000584379.1_Silent_p.A20A			Q8IWB9	TEX2_HUMAN	testis expressed 2	20					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCACTTTAGGGGCTGATGGTT	0.562																																																	0													133.0	118.0	123.0					17																	62291518		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.60C>T	17.37:g.62291518G>A		Somatic		WXS	SOLID	Phase_I	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469	
UPP2	151531	hgsc.bcm.edu	37	2	158958551	158958551	+	De_novo_Start_InFrame	SNP	G	G	A	rs74924675|rs11368509	byFrequency	TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr2:158958551G>A	ENST00000005756.4	+	0	170				UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Splice_Site|UPP2_ENST00000605860.1_Splice_Site	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATCAATTTAAGGTGACTTTTC	0.353																																																	0													120.0	128.0	125.0					2																	158958551		2203	4300	6503			151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969		2.37:g.158958551G>A		Somatic		WXS	SOLID	Phase_I	B3KV87	Splice_Site	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.867212	0.00547	.	.	ENSG00000007001	ENST00000409859	.	.	.	4.09	-0.109	0.13584	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7486	0.13049	0.2047:0.3414:0.4538:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UPP2	158666797	0.706000	0.27856	0.000000	0.03702	0.000000	0.00434	0.714000	0.25808	-0.270000	0.09285	-0.844000	0.03045	.		0.353	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2		NM_173355	
